Q9UPY3
EV
Gene name |
DICER1 (DICER, HERNA, KIAA0928) |
Protein name |
Endoribonuclease Dicer |
Names |
Helicase with RNase motif, Helicase MOI |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23405 |
EC number |
3.1.26.3: Endoribonucleases producing 5'-phosphomonoesters |
Protein Class |
DICER-RELATED (PTHR14950) |
Descriptions
Dicer, a member of the Ribonuclease III family of enzymes, processes double-stranded RNA substrates into ~21-27 nucleotide products that trigger sequence-directed gene silencing by RNA interference (RNAi). The N-terminal domain of Dicer, which is homologous to DExD/H-box helicases, substantially attenuates the rate of substrate cleavage. Deletion or mutation of this domain activates human Dicer. Modest stimulation of catalysis by the full-length Dicer enzyme was observed in the presence of the TAR-RNA binding protein (TRBP), which physically interacts with the DExD/H-box domain. Thus, the DExD/H-box domain likely disrupts the functionality of the Dicer active site until a structural rearrangement occurs, perhaps upon assembly with its molecular partners
Autoinhibitory domains (AIDs)
Target domain |
1276-1403 (RNase IIIa domain); 1666-1824 (RNase IIIb domain) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
17 structures for Q9UPY3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2EB1 | X-ray | 200 A | A/B/C | 1660-1852 | PDB |
| 4NGB | X-ray | 225 A | A | 765-1065 | PDB |
| 4NGC | X-ray | 210 A | A | 765-1065 | PDB |
| 4NGD | X-ray | 196 A | A | 765-1065 | PDB |
| 4NGF | X-ray | 310 A | A/B/C/D | 765-1065 | PDB |
| 4NGG | X-ray | 260 A | A | 765-1065 | PDB |
| 4NH3 | X-ray | 262 A | A | 765-1065 | PDB |
| 4NH5 | X-ray | 255 A | A | 765-1065 | PDB |
| 4NH6 | X-ray | 255 A | A | 765-1065 | PDB |
| 4NHA | X-ray | 340 A | A | 765-1065 | PDB |
| 4WYQ | X-ray | 320 A | A/D | 267-389 | PDB |
| 5ZAK | EM | 440 A | A | 1-1922 | PDB |
| 5ZAL | EM | 470 A | A | 1-1922 | PDB |
| 5ZAM | EM | 570 A | A | 1-1922 | PDB |
| 7XW2 | EM | 304 A | A | 1-1922 | PDB |
| 7XW3 | EM | 404 A | A | 1-1922 | PDB |
| AF-Q9UPY3-F1 | Predicted | AlphaFoldDB |
2435 variants for Q9UPY3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000227003 rs878855254 RCV000562389 |
1 | M>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390890851 rs1416298002 RCV001025903 |
2 | K>N | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002372797 rs1894132373 RCV001046359 |
3 | S>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1894132635 RCV002420771 RCV001352613 |
3 | S>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7331761 RCV001017296 rs772433602 RCV001363323 |
4 | P>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002393733 RCV001308454 rs1894131614 |
5 | A>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989258 RCV003315745 RCV000120631 RCV000493327 RCV000433632 rs117358479 CA332137 RCV001262126 |
7 | Q>R | Hereditary cancer-predisposing syndrome Pleuropulmonary blastoma DICER1 syndrome Breast neoplasm [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001225082 rs1894130122 |
8 | P>H | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7331758 RCV001015112 rs748788519 |
8 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003169675 rs748788519 RCV001345622 |
8 | P>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016068 rs1482976224 RCV000654432 CA390890774 |
9 | L>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001226700 CA390890760 rs1595469164 RCV001017900 |
10 | S>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060503610 RCV000476538 CA16614734 RCV001021389 |
13 | G>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021392 CA390890720 rs1060503610 RCV001054920 |
13 | G>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000654403 rs1555376589 CA390890706 |
15 | Q>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390890689 rs1595469050 RCV001759530 RCV000803325 |
16 | L>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555376587 CA390890684 RCV000654398 RCV002334206 |
17 | M>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001339235 rs1555376587 |
17 | M>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA158258 RCV002345426 RCV000120632 rs587778227 RCV001854608 |
19 | P>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002350569 rs1060503638 RCV001313494 |
19 | P>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000468835 rs1060503638 CA16614733 |
19 | P>T | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001024666 CA390890650 rs1555376579 RCV000654440 |
20 | A>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000203871 rs147660793 RCV001356132 RCV000493114 CA332140 RCV000120633 |
20 | A>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002366178 CA390890625 rs1289924579 RCV001319093 |
21 | S>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060503626 RCV000461365 CA16614322 |
22 | S>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555376567 RCV000531961 CA390890592 RCV002367961 |
23 | P>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7331752 RCV000804944 rs751520020 RCV000572085 CA7331753 |
24 | M>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000563130 RCV003237798 CA10583231 RCV000226545 rs754439528 |
24 | M>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000561019 rs1555376566 RCV001327759 CA390890561 |
25 | G>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7331751 RCV000565379 RCV000537230 rs201358110 |
26 | P>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000654388 CA390890528 rs1555376563 |
27 | F>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002447067 CA265927715 rs61729796 RCV001207516 |
28 | F>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001017710 CA7331749 rs61729796 RCV000460921 |
28 | F>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA390890525 RCV002427509 RCV001042291 rs1333617601 |
28 | F>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001200942 rs1894120957 |
29 | G>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200943 rs1894119538 |
32 | W>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390890474 RCV000654373 rs1555376548 |
34 | Q>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390890455 RCV000804397 rs1595468729 |
36 | A>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772381832 RCV002446844 RCV000471095 CA7331745 |
37 | I>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs772381832 RCV001319673 |
37 | I>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001017417 rs1595468689 CA390890448 RCV001053205 |
38 | H>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001322317 rs1595468669 RCV001009987 CA390890444 |
38 | H>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs748564911 CA7331744 RCV001058120 RCV002327328 |
39 | D>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001010025 rs1595468657 CA390890438 |
39 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1894116766 RCV002357182 RCV001342246 |
41 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7331742 RCV000571554 rs367797765 RCV001292646 RCV000474678 COSM959283 RCV003221994 |
43 | T>M | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome endometrium Euthyroid goiter DICER1 syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000497812 RCV003105927 rs367797765 CA390890395 |
43 | T>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA390890363 RCV000699235 rs1566816326 |
46 | K>Q | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390890353 rs1595468517 RCV002381862 RCV000820284 |
46 | K>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200979 rs1894113719 |
48 | Q>E | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000456605 CA16614569 rs1060503624 |
49 | V>A | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555376413 CA390890202 RCV000563819 |
49 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001055765 rs1595466704 |
52 | L>F | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390890166 rs1595466704 RCV000803836 |
52 | L>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000792873 rs1595466689 CA390890130 |
54 | A>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000539270 rs769164427 CA390890114 |
55 | A>T | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555376409 RCV002404572 CA390890075 RCV000552718 |
58 | H>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001012935 RCV001364697 rs1595466613 CA390890072 RCV003145253 |
58 | H>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001012997 RCV001860728 rs1368593353 CA390890067 |
59 | N>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000567350 rs587778228 CA158267 RCV000230149 RCV002517581 RCV000120637 |
60 | T>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001013299 rs1060503646 CA16614731 RCV000458877 |
61 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001013380 RCV001200980 rs746671039 RCV003128683 RCV000654380 CA7331717 |
62 | V>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1894050914 RCV001220802 |
63 | C>Y | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200981 RCV001013744 rs1231822339 CA390890030 RCV000531832 RCV003314617 |
64 | L>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000654470 CA390890014 RCV002422426 rs1555376402 |
66 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003317448 rs777362732 RCV002418697 RCV001207613 |
66 | T>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1894049306 RCV001063977 |
67 | G>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001014272 CA390889986 rs1595466411 |
69 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002429633 RCV001049289 CA390889934 rs1312551730 |
73 | I>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000690532 CA891844410 RCV001014751 rs1566815292 |
74 | A>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs202181696 RCV001295573 |
74 | A>T | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002442612 rs1595466279 CA390889905 RCV000791595 |
76 | L>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000696264 rs1566815251 CA390889892 |
78 | T>A | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000851450 CA390889868 rs1595466234 RCV000805001 |
80 | E>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001015374 CA390889870 rs1595466234 |
80 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001054609 rs1894044221 |
81 | L>Q | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002479936 RCV000231291 RCV002291610 rs373646414 CA7331707 RCV000574980 |
83 | Y>C | Hereditary cancer-predisposing syndrome Pleuropulmonary blastoma DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA390889814 RCV001015852 rs1595466147 |
84 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs763422772 RCV001200982 RCV002479937 RCV000234093 CA7331706 RCV000573094 |
85 | I>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000534037 rs1555376375 RCV002456259 |
86 | R>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001015935 rs1595466068 |
86 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555376374 CA390889798 RCV000569742 |
86 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595466060 CA390889791 RCV001016005 |
86 | R>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390889786 RCV001016060 rs1595466026 RCV002550812 |
87 | G>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001308643 rs1894040646 |
88 | D>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000472522 rs775828379 CA7331705 RCV001016161 RCV002465666 RCV001800689 |
88 | D>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001247486 rs1894040158 |
89 | F>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390889751 RCV000791588 RCV003166083 rs1595465990 |
89 | F>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000225966 rs878855252 CA10583229 RCV001016417 |
91 | R>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000564923 RCV000465833 rs776219930 RCV002509396 CA7331702 RCV003321616 |
93 | G>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555376368 RCV000558690 |
95 | R>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390889680 RCV001240701 rs1595465892 RCV001016760 |
95 | R>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001063940 rs1894036576 |
95 | R>M | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001342031 rs1894037398 |
96 | T>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770567567 RCV001345497 CA7331701 RCV003169674 |
96 | T>M | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000464977 rs1060503582 CA16614434 |
97 | V>A | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001016906 CA390889661 RCV001297138 rs1566815070 |
97 | V>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390889642 RCV001017626 rs1595465820 |
98 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000823326 CA390889623 RCV000851455 rs1390907504 |
100 | V>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1894034529 RCV001044260 |
102 | S>P | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893961613 RCV002322126 RCV001234828 |
103 | A>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893961345 RCV001066854 |
105 | Q>K | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000808251 rs1595463330 |
107 | A>CWFDT | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16614567 rs1060503655 RCV001019237 RCV000465807 |
107 | A>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000688162 CA390889433 RCV001019354 rs1566813997 |
108 | Q>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001038048 rs1893959587 |
109 | Q>R | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555376190 RCV002442364 RCV000654424 CA390889402 |
110 | V>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000542109 rs1555376185 CA390889350 |
112 | A>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1893958393 RCV001200983 |
114 | R>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893957349 RCV001248557 |
116 | H>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1442952372 RCV002453900 RCV000823077 CA390889246 |
118 | D>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001327632 CA7331686 rs557182925 RCV001020536 |
118 | D>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1060503661 RCV000457510 CA16614295 |
119 | L>F | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000566901 rs1060503608 RCV000474331 CA16614428 RCV000765199 |
120 | K>M | Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1893955100 RCV001306088 RCV002456390 |
121 | V>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893954557 RCV001045540 |
122 | G>E | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs377669634 RCV001245203 |
125 | S>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001021038 CA7331683 RCV000654365 rs377669634 |
125 | S>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7331682 RCV000568690 rs373734886 RCV000803170 |
126 | N>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs373734886 RCV002368136 RCV001344530 |
126 | N>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001021116 rs1060503593 COSM386646 RCV000464564 CA16614290 |
126 | N>S | lung Hereditary cancer-predisposing syndrome DICER1 syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000559895 CA7331681 rs560739585 RCV000567723 |
127 | L>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1345117803 RCV001796193 CA390889051 RCV001021259 RCV000702359 |
128 | E>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA390889056 rs1595462971 RCV001021246 |
128 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001320174 rs1893951140 |
129 | V>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001347766 rs1893950452 |
131 | A>T | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002268304 rs774138190 CA7331678 RCV000812487 RCV002370191 |
131 | A>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001062415 rs1893949571 |
132 | S>F | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000807616 CA390888944 rs1595462886 |
134 | T>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1893948849 RCV002377463 RCV001344831 |
135 | K>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA265926925 RCV001021819 rs1037879170 RCV000554347 |
136 | E>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001229094 rs1037879170 |
136 | E>G | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7331677 RCV000685407 rs768445477 RCV002325349 |
136 | E>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001218594 rs1893947224 RCV002327513 |
139 | N>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390888854 RCV001022027 rs1595462808 |
140 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000458595 rs1060503612 CA16614566 |
143 | T>A | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390888801 rs1595462753 RCV001022220 |
143 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000471774 rs1060503629 CA16614288 |
144 | K>M | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs370784723 RCV002331276 RCV000654392 CA7331674 |
144 | K>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1473045432 CA390888770 RCV002551852 RCV001022351 |
145 | H>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7331673 rs747179239 RCV001214954 RCV002327499 |
145 | H>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002332435 rs1566811995 CA390888616 RCV000692554 |
147 | V>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000463130 rs549001286 CA7331656 |
149 | I>T | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1447817443 CA390888598 RCV000809322 RCV000568271 |
150 | M>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1893835509 RCV001209934 |
153 | Y>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696162 CA390888575 rs769827245 |
153 | Y>S | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002341468 RCV000524590 rs1555375978 |
154 | V>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001022828 CA7331654 RCV000227833 rs745802492 |
155 | A>T | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1595459239 CA390888561 RCV001022843 |
155 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002341678 rs1893833599 RCV001326577 |
157 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7331650 RCV001058667 rs373532001 RCV002339291 |
161 | N>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP |
|
RCV002332699 RCV000819868 CA7331651 rs373532001 |
161 | N>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP |
|
CA390888523 rs1595459165 RCV001023119 |
161 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390888517 RCV003307473 RCV000803757 RCV003153846 rs1595459155 |
162 | G>C | Hereditary cancer-predisposing syndrome DICER1 syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000234323 RCV000494493 rs142815547 CA7331649 RCV000605038 |
162 | G>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000205672 rs864622626 CA349806 |
163 | Y>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003153647 RCV000476646 CA16614726 RCV000568030 rs894664317 |
165 | S>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001044321 rs1893829444 |
168 | D>G | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001217057 rs1893828996 RCV002348725 |
169 | I>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893829227 RCV001055208 |
169 | I>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893828235 RCV001242097 |
171 | L>F | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060504972 RCV001050983 |
172 | L>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390888448 RCV001206985 rs1054932577 RCV001023674 |
173 | V>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001862270 rs1595459011 CA390888438 RCV001023755 |
174 | F>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1177718322 CA390888426 RCV001023828 RCV000795897 |
176 | E>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000654370 RCV002255496 CA7331646 rs756586319 |
176 | E>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1893825454 RCV001230865 |
177 | C>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001023947 RCV001060227 rs201239474 CA7331645 |
178 | H>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002350390 rs1555375946 RCV000555663 |
180 | A>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595458919 CA390888398 RCV001024019 |
180 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA265926371 RCV001070494 rs375454363 RCV002348483 |
180 | A>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV002465789 rs761253717 RCV002345904 RCV000822569 CA7331643 |
181 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001024122 CA390888389 rs1595458819 |
182 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002349983 CA390888379 RCV000460261 rs1060503587 CA16614284 RCV000700859 RCV002343528 |
183 | D>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001024168 RCV002551889 rs1595458785 CA390888381 |
183 | D>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1893822227 RCV001038729 |
184 | H>D | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227080 rs1893821762 |
185 | P>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001302759 rs1170562259 |
185 | P>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001024289 rs1595458724 |
186 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893820947 RCV001215754 |
186 | Y>C | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003165501 RCV000206588 CA350609 rs763801533 COSM3499502 |
187 | R>* | Variant assessed as Somatic; HIGH impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA390888356 RCV001024307 rs763801533 RCV000654367 |
187 | R>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs775207591 RCV001024324 RCV000543718 CA7331640 |
187 | R>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000568748 CA390888337 rs1555375918 |
190 | M>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs769477041 RCV000814587 CA390888338 |
190 | M>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs1555375918 CA390888336 RCV002551892 RCV001024422 |
190 | M>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs769477041 RCV001308021 CA7331639 |
190 | M>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA390888309 RCV001024484 rs1595457308 RCV001037061 |
192 | L>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001024479 CA390888310 RCV001338620 rs1595457308 |
192 | L>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001204083 rs1893778744 |
193 | C>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7331615 rs770842365 RCV002356708 RCV000458293 |
195 | N>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1893778226 RCV002357197 RCV001348339 |
196 | C>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16614562 rs1060503642 RCV000472039 |
197 | P>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001302029 rs1060503642 |
197 | P>R | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs375689793 RCV000573122 RCV000548749 CA265926129 |
197 | P>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV002356889 RCV001207540 rs1024665554 CA265926121 |
198 | S>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1893775878 RCV001200984 |
199 | C>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001024814 CA390888250 rs774514314 RCV000654448 |
201 | R>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM1238673 RCV000821044 rs749484792 CA7331611 RCV001024823 |
201 | R>H | oesophagus Hereditary cancer-predisposing syndrome DICER1 syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886037730 RCV000240938 CA10586467 |
210 | L>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA390888195 rs886037730 RCV000575811 |
210 | L>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA390888191 RCV001025132 rs1392979238 |
211 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA390888165 rs1595457082 RCV000817835 |
214 | C>Y | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs781713298 RCV001218880 CA7331607 |
215 | D>N | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001036088 rs757700482 CA7331606 RCV001025297 |
216 | P>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000692066 CA390888145 rs1566810624 |
217 | E>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs747514493 RCV002365667 CA7331605 RCV000474822 |
218 | E>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA390888122 RCV001025450 RCV000542050 rs1555375819 |
220 | E>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000569381 CA7331603 rs757925350 RCV000814385 |
221 | E>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001212433 rs1595456916 RCV001200985 COSM959282 |
222 | K>N | Variant assessed as Somatic; MODERATE impact. DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
RCV001326097 rs1893769093 RCV002366204 |
223 | I>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595456904 CA390888098 RCV000806745 RCV002360983 |
224 | Q>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000654408 rs1555375816 CA390888096 |
224 | Q>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000819553 RCV002363145 CA390888087 rs1445983492 |
225 | K>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1595456849 RCV001025664 RCV002550919 CA390888078 |
227 | E>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000463769 CA16614421 rs1060503659 |
228 | K>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001218525 CA390888061 rs1566810524 |
229 | I>T | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595456779 RCV001025842 CA390888041 |
232 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1893765424 RCV001225654 |
233 | N>D | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001047896 rs1893764845 |
233 | N>K | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1465088683 RCV001862345 CA390888034 RCV001025884 |
233 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002365950 rs1893764557 RCV001211120 |
234 | A>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595456744 RCV001025968 CA390888019 |
235 | E>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000793632 rs1595456728 CA390888006 |
237 | A>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs760627991 RCV001346868 CA7331597 |
238 | T>A | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002369764 RCV000654445 rs1555375788 CA390887994 |
239 | D>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16614281 RCV002374814 rs1060503615 RCV000460684 |
240 | L>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001026198 CA390887980 rs1290563406 |
242 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7331576 RCV003226948 RCV001026321 RCV000531119 rs767605412 |
245 | R>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7331575 RCV001026346 RCV000546158 rs775370673 |
246 | Y>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001299791 rs775370673 RCV002384352 CA7331574 |
246 | Y>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1893498325 RCV001341911 |
246 | Y>H | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs369189695 RCV000560829 CA7331573 RCV001026378 |
247 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs759633210 RCV001026427 CA7331572 RCV000463647 |
248 | S>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1893496450 RCV001200987 |
249 | Q>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886037732 COSM3499501 RCV000240901 CA10586465 |
249 | Q>* | Variant assessed as Somatic; HIGH impact. DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
rs776934552 RCV001346563 CA7331571 |
249 | Q>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001046388 rs1159678311 RCV002393229 |
251 | C>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390887914 RCV001026524 rs1353008772 |
251 | C>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1353008772 CA390887913 RCV001026523 RCV000654449 |
251 | C>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000654362 rs1555375356 |
253 | I>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893493719 RCV001228579 |
253 | I>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000818968 CA390887897 rs1418479189 RCV002390681 |
253 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000819091 CA390887889 RCV001026622 rs1595448254 |
254 | V>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595448248 RCV001026658 RCV001862375 CA390887880 |
255 | V>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001862381 rs1595448239 RCV001026727 CA390887851 |
257 | C>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001060538 rs1893492582 |
258 | G>R | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7331569 RCV000461367 RCV001026773 rs188327838 |
258 | G>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs566464225 RCV000576081 CA7331568 RCV000558887 RCV003144378 |
259 | P>L | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001037992 rs566464225 RCV002409375 |
259 | P>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000815605 CA390887801 RCV001026845 rs1595448161 |
261 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595448147 CA390887797 RCV001026853 |
261 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1893491063 RCV001060833 |
262 | D>G | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs772627278 CA7331567 RCV000700787 |
266 | L>F | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000470858 rs774554682 CA16614722 RCV002411516 |
268 | E>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002411831 RCV001224888 rs1251925935 CA390887712 |
268 | E>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390887664 rs1566806837 COSM3499500 RCV000699253 |
272 | M>I | Variant assessed as Somatic; MODERATE impact. DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinGen ClinVar Ensembl dbSNP |
|
rs1893488163 RCV001057669 |
272 | M>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390887653 RCV002256470 RCV000691517 rs1566806827 |
273 | E>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390887635 RCV000806257 rs1595447950 |
274 | L>F | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000474599 rs778219828 RCV000568089 CA7331565 |
274 | L>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA390887630 rs1555375333 RCV000536462 |
275 | E>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1893486464 RCV001317631 RCV002431904 |
276 | E>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893486464 RCV001296282 |
276 | E>G | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs986916694 RCV001036781 |
277 | A>E | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16614721 RCV001017533 RCV000476889 rs986916694 RCV002248693 |
277 | A>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000240941 RCV002436077 rs768248216 CA7331564 |
278 | L>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001017600 RCV001873298 rs1345404696 CA390887575 |
279 | N>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001360224 CA390887571 RCV001017612 rs1422024152 |
279 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA390887573 RCV000687219 RCV001017602 rs1345404696 COSM1678227 |
279 | N>Y | kidney Hereditary cancer-predisposing syndrome DICER1 syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA390887548 RCV001017838 rs1595447814 RCV001316943 |
282 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390887539 rs1566806740 RCV000686266 |
283 | D>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001227022 rs1412252643 |
284 | C>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390887533 RCV000696424 RCV002442474 rs1566806728 |
284 | C>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7331563 rs748847398 RCV001225818 RCV000571313 |
285 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000469952 CA16614280 rs1060503600 |
287 | S>C | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390887514 RCV001018046 rs1595447725 |
287 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000654405 rs1555375302 CA390887509 RCV002369763 |
288 | V>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595447658 RCV001200988 CA390887491 RCV000851431 |
290 | S>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
rs1595447658 RCV001226873 |
290 | S>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595447611 RCV001303320 RCV001018234 CA390887488 |
291 | K>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000023523 rs1595447577 |
292 | E>missing | Euthyroid goiter [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001217076 rs1893479937 |
292 | E>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893478668 RCV001200989 |
293 | R>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691198 RCV000493010 |
293 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000240877 RCV000493107 rs886037733 |
293 | R>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001018308 CA10583225 rs878855277 RCV003319340 RCV000225818 |
293 | R>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7331562 RCV000229795 RCV000851486 RCV000566029 rs548231008 |
295 | S>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001216598 rs1595447510 |
296 | T>I | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595447510 CA390887450 RCV000808325 |
296 | T>S | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1893477290 RCV001350010 |
297 | L>F | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034916 rs1893477550 |
297 | L>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7331561 RCV000232640 rs755944755 RCV000565567 |
299 | S>L | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000526362 CA390887420 rs781144010 |
301 | Q>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555374864 CA390887400 RCV000654366 |
302 | I>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200991 rs1893253451 |
304 | S>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001314169 rs886050944 RCV001313104 |
305 | D>E | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893252120 RCV001200992 |
307 | R>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000568506 RCV000551570 rs772431718 CA7331545 |
307 | R>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000570173 RCV001555417 CA7331544 rs149718671 RCV000226203 RCV002494670 |
307 | R>H | Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001068323 rs149718671 |
307 | R>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1047347414 RCV001049621 CA265923549 RCV002374899 |
308 | A>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1181141404 RCV000525307 RCV003325205 RCV000569084 CA390887361 COSM4053292 |
309 | V>I | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome Pleuropulmonary blastoma DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000803571 CA390887344 rs1595440577 RCV001019180 |
311 | V>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691212 RCV000493641 |
313 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000493574 rs1555374817 |
316 | W>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000851487 CA390887315 rs1555374839 RCV000654416 |
316 | W>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1893246758 RCV001350805 |
319 | D>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390887293 rs776738577 RCV001300423 RCV001019500 |
319 | D>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200993 rs1461043339 |
320 | K>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002383835 CA7331541 rs779851333 RCV000463070 |
320 | K>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs779851333 RCV001342029 |
320 | K>T | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001860949 rs1595440377 CA390887283 RCV001019575 |
321 | V>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595440336 CA390887278 RCV001019584 |
322 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs906299601 CA390887269 RCV000693264 |
323 | G>E | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1893243547 RCV003294328 RCV001338612 |
323 | G>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003153729 rs906299601 RCV000540314 CA265923510 RCV000563980 |
323 | G>V | Hereditary cancer-predisposing syndrome Pleuropulmonary blastoma DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000654395 rs1555374806 RCV001019687 CA390887260 |
324 | M>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595440270 CA390887263 RCV000823750 RCV002381880 |
324 | M>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555374801 RCV000654430 CA390887257 |
325 | M>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1893241047 RCV001319770 |
326 | V>G | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000654443 CA390887249 RCV002386118 rs1555374798 |
326 | V>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000654393 RCV000566754 CA390887248 rs1555374798 |
326 | V>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000554989 rs1555374797 CA390887243 |
327 | R>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1893240278 RCV001308049 |
328 | E>K | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893239532 RCV001200994 |
330 | Q>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757094384 CA10586463 RCV000240904 |
332 | Y>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA390887197 RCV000794261 rs1595440132 |
333 | I>T | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1893238171 RCV001063959 |
334 | K>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893238411 RCV001342732 |
334 | K>T | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566803081 RCV000696809 CA390887180 |
335 | H>Q | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060503602 RCV000573917 RCV000471033 CA16614714 |
335 | H>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7331536 RCV001071732 rs556647675 |
335 | H>Y | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001054753 rs1893237069 |
337 | Q>E | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000692200 rs1383771176 RCV002442449 CA390887165 |
337 | Q>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA158285 RCV000475935 rs587778232 RCV000120644 RCV000566987 |
338 | E>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002343387 rs755007541 RCV000654438 CA7331535 |
339 | E>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000535438 rs1555374783 CA658656457 |
339 | E>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201042 rs1131691218 RCV000493822 |
342 | R>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555374772 RCV000851433 RCV000550323 RCV002384263 |
344 | F>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002395486 RCV000533944 CA390887114 rs1161765608 |
344 | F>L | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000695217 rs1566802978 RCV001017105 CA390887099 |
346 | L>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1893233162 RCV002256668 RCV001055236 |
346 | L>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893231745 RCV001042382 |
346 | L>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390887088 RCV000548854 rs1555374767 RCV002395487 |
348 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390887078 rs1381966696 RCV000813111 RCV002256538 |
349 | D>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001208121 rs1893230240 |
351 | F>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1445685499 CA390887062 RCV001017151 RCV001860856 |
352 | L>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1893229342 RCV001035917 RCV002400214 |
354 | K>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390887031 RCV001068727 RCV000561726 rs1212942890 |
356 | H>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA390887024 RCV003238228 RCV000801715 rs1555374756 |
357 | A>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs760821185 RCV001017187 RCV000697813 CA7331532 |
357 | A>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002420534 rs1555374756 RCV000542132 CA390887023 |
357 | A>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001017210 rs750675738 CA390887021 |
358 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1893227332 RCV001040785 |
360 | E>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001247361 rs1893226548 |
361 | E>G | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583224 rs878855238 RCV000566742 RCV000232128 |
361 | E>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA390886988 RCV001873285 rs1595439630 RCV001017166 |
362 | H>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000474601 RCV001017161 CA7331530 rs767729028 |
362 | H>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001213049 rs1893225960 |
362 | H>Y | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002442365 RCV000654434 rs1555374748 CA390886975 |
364 | S>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060503598 CA16614390 RCV000467606 RCV002446841 |
365 | P>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1595439559 CA390886973 RCV001017259 |
365 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001867890 CA390886958 RCV000574059 rs1555374747 |
368 | L>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM699741 CA390886956 rs1555374747 RCV001017314 RCV000547415 |
368 | L>V | lung Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000525847 rs1555374745 CA390886946 |
369 | D>E | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001295140 rs1893223474 |
369 | D>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000229751 CA10583222 rs878855240 RCV002429140 |
370 | L>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA265923445 CA390886923 RCV000818135 RCV000540691 rs369145814 RCV001017381 |
373 | V>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
rs1595439411 RCV001213430 |
375 | P>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390886910 RCV000812340 rs148758903 RCV001009929 |
375 | P>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7331526 RCV001292801 RCV003325952 RCV000231396 rs148758903 RCV002469086 RCV001201043 RCV000570796 |
375 | P>R | DICER1-related tumor predisposition Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001860618 RCV001009924 CA390886911 rs1595439411 |
375 | P>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201045 rs1893219311 |
376 | K>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002258209 rs769457054 CA7331524 RCV001340393 |
378 | I>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000528753 rs1555374734 |
379 | K>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002447178 rs1893218088 RCV001235750 |
379 | K>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000493341 CA10586462 rs886037667 RCV000240937 |
382 | E>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390886869 COSM1629449 rs886037667 RCV001214754 RCV002451468 |
382 | E>K | liver large_intestine Hereditary cancer-predisposing syndrome DICER1 syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs1893214804 RCV001201047 RCV002560281 |
385 | R>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1300937 RCV001010009 rs746886465 RCV000702967 CA7331520 |
385 | R>C | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome central_nervous_system urinary_tract DICER1 syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA390886848 rs746886465 RCV000567826 |
385 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002360925 CA390886847 rs1273140956 RCV000796279 |
385 | R>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000800457 CA390886849 rs746886465 |
385 | R>S | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000565916 rs777556655 RCV003114684 RCV000654459 CA7331519 |
386 | K>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555374717 CA390886828 RCV000654450 |
388 | K>E | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10583221 RCV001082775 RCV000851434 rs878855241 RCV001010092 |
390 | Y>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691211 RCV000851396 RCV001257541 RCV000492953 CA390886799 RCV001201049 |
392 | R>* | Variant assessed as Somatic; HIGH impact. Rhabdomyosarcoma Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1893211484 RCV001201048 |
392 | R>PI* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142635816 CA7331517 RCV000693100 RCV001010137 |
392 | R>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001201050 rs1893210489 |
393 | Q>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000552764 CA390886768 rs1555374707 |
396 | E>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886037668 RCV000493573 RCV000240876 |
396 | E>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201051 rs1893209726 |
397 | S>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390886761 rs1347290726 RCV001858100 RCV000571846 |
397 | S>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1404281132 RCV001116585 |
398 | V>F | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687412 rs1404281132 CA390886756 RCV002334261 |
398 | V>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002334207 CA390886748 RCV000654433 rs1555374703 |
399 | E>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002336598 CA390886749 RCV000799766 rs868628444 |
399 | E>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201052 rs1595438867 RCV000851397 |
400 | W>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893206922 RCV001201053 |
400 | W>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10586460 rs886037669 RCV000240914 |
401 | Y>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000531172 CA7331516 rs551460901 RCV000574527 |
405 | N>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002352414 CA265923331 rs1024226278 RCV000811296 |
405 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001307287 rs1893204441 |
407 | D>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893204441 RCV001326896 |
407 | D>Y | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7331515 rs750625383 RCV001010394 |
408 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001043832 RCV002363590 rs1893203328 |
408 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001315059 rs1893202515 |
410 | V>M | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001010462 RCV000692244 rs1566802127 CA390886591 |
411 | S>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555374679 RCV000523257 RCV002367732 |
412 | W>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001053811 rs1893200825 |
412 | W>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000704373 RCV000574576 rs1555374678 CA390886562 |
413 | S>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691220 CA390886520 RCV001384154 RCV000493435 |
416 | E>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390886499 RCV000541482 RCV000793039 CA265923281 rs899404083 |
417 | D>E | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1893199207 RCV001042694 |
417 | D>G | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7331512 RCV000704821 rs150714784 |
417 | D>N | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP |
|
RCV000466450 CA16614704 rs1060503623 |
419 | D>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000654435 CA390886465 rs1555374663 |
420 | E>K | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1280386879 CA390886457 RCV001010615 |
420 | E>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA7331511 rs764367623 RCV000805548 |
421 | D>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA390886444 RCV000813674 rs1595438495 |
421 | D>Y | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1566802002 CA390886432 RCV000704087 |
422 | E>K | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7331510 RCV001860647 RCV001010675 rs763512012 |
424 | I>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1435715607 RCV001239854 CA390886371 |
425 | E>K | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1595438347 RCV000815040 |
427 | K>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001233092 rs1893194731 |
427 | K>E | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390886340 RCV001010725 RCV001235469 rs1595438359 |
427 | K>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1893194212 RCV003293990 RCV001201056 RCV001219917 |
428 | E>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893193729 RCV001201057 RCV001310719 |
429 | K>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1325355975 RCV001216003 RCV002379817 CA390886319 |
429 | K>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001295792 rs1893193507 |
429 | K>Q | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000574018 RCV000462069 rs1060503601 CA16614273 |
430 | P>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002384397 RCV001315251 rs1060503601 |
430 | P>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001068910 CA390886290 rs1595438258 RCV001010816 |
433 | N>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1893191542 RCV003169719 RCV001349302 |
433 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000851436 rs1595438234 RCV001201059 |
436 | S>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503595 RCV000817164 CA390886266 |
436 | S>A | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002379496 RCV001039560 rs1213682122 CA390886262 |
436 | S>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060503595 RCV000465655 RCV002383834 CA16614269 |
436 | S>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390886243 rs1566801823 RCV000687785 |
439 | T>S | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595438165 RCV000813949 CA390886237 RCV001010963 |
440 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390886229 rs1595438132 RCV000823325 |
441 | I>T | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691190 RCV000493723 |
442 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595438051 RCV000851398 RCV002381904 RCV001201060 |
443 | C>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001327788 rs1893186876 |
447 | F>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390886183 RCV000654369 RCV003237978 rs1555374618 RCV003163014 |
448 | V>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001305442 rs1893186128 |
449 | E>Q | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390886148 RCV000494670 rs1131691219 |
452 | Y>* | Variant assessed as Somatic; HIGH impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001326804 rs368535616 |
454 | A>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1893184174 RCV001201105 |
455 | V>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689168 rs1566801690 CA390886109 |
459 | R>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555373260 RCV000572584 RCV001222621 CA390885698 |
460 | L>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201107 rs1892609218 |
461 | I>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000818349 rs141163928 RCV000574882 CA7331488 |
461 | I>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001070481 CA265917370 rs202029334 |
461 | I>M | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000566185 RCV001084141 rs141163928 RCV001269489 RCV000851438 CA7331487 |
461 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555373256 RCV000574921 CA390885687 RCV000544563 |
462 | K>R | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA7331485 RCV000563971 RCV000797427 rs761639108 |
464 | A>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1892608239 RCV001344710 |
465 | G>D | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691203 RCV000493643 |
467 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892607259 RCV001231914 RCV002393576 |
467 | Q>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595415714 CA390885657 RCV001011365 |
467 | Q>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886037671 RCV000494242 CA10586458 RCV000240880 |
470 | E>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001011407 CA7331484 RCV003325204 rs774271782 RCV000559384 |
470 | E>D | Hereditary cancer-predisposing syndrome Pleuropulmonary blastoma DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA390885633 RCV001011427 rs1595415650 RCV001363125 |
470 | E>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000543044 rs1555373228 |
473 | Y>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002393511 CA390885616 RCV001216803 rs1314692347 |
473 | Y>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000654415 CA390885615 rs1314692347 |
473 | Y>S | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000470835 RCV003168864 rs1060503581 CA16614699 |
474 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000573989 CA16614383 rs1060503594 RCV000472646 RCV003151779 |
475 | S>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM5019847 RCV001201109 rs1060503630 CA16614267 RCV000475639 RCV000564585 |
477 | N>S | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001344655 rs1892601898 |
480 | T>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001011604 COSM6141740 RCV001055447 CA390885558 rs1307281391 |
481 | G>V | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001011616 RCV000654452 CA7331482 rs749240414 |
482 | H>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1892600067 RCV001341561 |
484 | I>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000556393 CA265917282 RCV003156260 RCV001011661 rs762155753 |
485 | G>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001243530 TCGA novel rs1892599226 RCV002393633 |
487 | N>S | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
CA16614555 rs1060503590 RCV000476049 |
487 | N>Y | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691209 RCV000493763 |
488 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595415285 RCV001011701 CA390885513 |
488 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7331479 RCV000472468 rs200866760 RCV001011531 |
489 | P>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7331478 RCV002227101 RCV000227215 RCV000570166 rs777894117 |
490 | R>C | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000534895 RCV001011730 rs1006363970 CA390885503 COSM959275 |
490 | R>H | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome endometrium DICER1 syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs777894117 CA16614553 RCV002393163 RCV000472281 |
490 | R>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA390885496 rs1595415161 RCV001011775 |
491 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000654469 RCV001011743 rs758829946 CA7331477 |
492 | K>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA390885474 RCV000572347 rs1224788557 RCV000803105 RCV003151106 |
494 | M>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390885476 rs1269571329 RCV000549790 RCV001011809 |
494 | M>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10583219 RCV000231243 RCV002392723 rs878855243 |
494 | M>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001298263 rs1892595266 |
496 | A>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10576131 rs875989782 RCV000211121 RCV001201110 |
500 | K>* | Pineoblastoma DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000797094 CA390885395 rs1595414962 RCV002388446 |
501 | Q>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595414939 CA390885388 RCV001011931 |
501 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892592646 RCV001054438 |
502 | E>K | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000240918 RCV000004726 CA212571 RCV000493893 rs137852977 |
503 | E>* | Pleuropulmonary blastoma (ppb) Hereditary cancer-predisposing syndrome Pleuropulmonary blastoma DICER1 syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000654409 CA390885370 rs137852977 |
503 | E>Q | Pleuropulmonary blastoma (ppb) DICER1 syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001061502 rs1892505565 |
506 | R>K | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000851442 RCV000240959 CA10586457 rs886037672 COSM3499496 RCV000494034 |
509 | R>* | Variant assessed as Somatic; HIGH impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001207320 rs1892504761 |
510 | A>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201111 RCV001012058 rs1595411687 |
511 | H>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595411702 CA390885180 RCV001012039 |
511 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001012069 rs1555372903 RCV000540230 CA390885160 |
512 | E>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595411600 CA390885110 RCV001012072 |
516 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002402723 RCV001231230 rs1892502082 |
517 | I>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566790489 RCV000696372 CA390885090 |
518 | A>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001012130 CA390885092 rs1595411588 RCV001217008 |
518 | A>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000695734 CA390885087 rs1566790479 |
519 | T>A | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs966168689 RCV002402668 RCV001220733 CA265916550 |
521 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001212407 rs1178338521 CA390885064 RCV001012146 |
522 | V>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1892499712 RCV001228659 |
523 | E>Q | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000470173 CA16614261 RCV001012241 rs1060503660 |
526 | V>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs143099538 RCV001002328 RCV000575192 CA7331449 RCV000232020 |
528 | I>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs755649018 RCV000810425 CA7331450 RCV001012260 |
528 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1892498387 RCV001201112 |
529 | P>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001318332 rs1892498125 |
530 | K>E | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390885012 RCV000706694 rs1566790400 |
530 | K>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892497042 RCV001048943 |
535 | V>F | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000573426 COSM225717 CA265916542 rs1007754435 RCV001043089 |
536 | R>C | NS Hereditary cancer-predisposing syndrome DICER1 syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs965350808 RCV002395743 RCV001340838 CA265916536 |
536 | R>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001244537 rs1007754435 |
536 | R>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001226152 rs1892495607 |
540 | P>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218663 rs1892495864 |
540 | P>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001340888 RCV003169618 rs1892495354 |
541 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7331447 RCV000550573 rs761391603 RCV003321667 RCV000570700 |
542 | E>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA390884924 rs1595411284 RCV000815709 |
543 | Y>D | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000240896 rs137852979 RCV000004729 RCV000851443 CA212583 |
544 | R>* | Pleuropulmonary blastoma (ppb) Pleuropulmonary blastoma DICER1 syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs143533680 CA7331446 RCV001012501 RCV000528971 |
544 | R>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001215285 rs1892492471 |
546 | Y>C | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1283543634 CA390884880 RCV000823139 |
550 | K>E | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000240932 rs886037673 CA10586456 |
551 | G>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892490570 RCV001306890 RCV002393726 |
552 | R>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002397587 rs1595411153 CA390884866 RCV000795248 |
552 | R>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892489257 RCV002402919 RCV001327721 |
555 | A>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000697921 CA390884844 RCV003163222 rs1566790256 |
555 | A>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390884842 rs1595411068 RCV000791924 |
556 | P>T | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs139198222 RCV001012648 CA7331443 RCV000693857 |
557 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000553612 rs1383145692 RCV002404571 CA390884806 |
561 | I>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000233675 rs147493562 RCV000570725 CA7331442 |
561 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1595410942 RCV001012707 |
562 | M>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390884800 RCV001012730 rs1595410959 RCV002549376 |
562 | M>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000240961 RCV002401950 rs886037674 |
562 | M>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390884785 RCV001012767 RCV000654417 rs201298288 |
564 | A>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002469159 RCV002268093 CA7331439 RCV000571889 rs201298288 RCV000456479 |
564 | A>V | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000542373 rs1555372851 |
565 | D>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001208016 rs1342138544 CA390884778 RCV002402608 |
565 | D>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1595410806 RCV001012679 CA390884774 |
566 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595410792 CA390884771 RCV002397698 RCV000816282 |
566 | T>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886037675 RCV000240898 |
566 | T>R | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566790127 CA390884757 RCV000705667 |
568 | K>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060503665 RCV000459141 |
569 | I>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774765473 RCV000460011 CA16614694 RCV001012755 |
569 | I>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001300572 rs1555372847 |
569 | I>R | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000654465 RCV003153791 CA390884749 rs1555372847 |
569 | I>T | DICER1 syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892481172 RCV001342988 |
571 | S>I | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595410659 RCV000811951 CA390884732 |
571 | S>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892481172 RCV002402894 RCV001321214 |
571 | S>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000240934 rs886037676 |
572 | F>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001318838 rs1892480663 RCV003284188 |
572 | F>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs993582806 RCV002479292 CA265916463 RCV001047831 |
574 | E>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000686437 rs1566790044 RCV001012852 |
574 | E>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16614548 rs1060503652 RCV002402297 RCV000465908 |
575 | D>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001065931 rs1892479531 |
575 | D>G | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000493051 rs1131691193 |
578 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555372838 RCV000561602 |
578 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503586 RCV003235229 RCV000459495 CA16614688 RCV000564125 |
578 | T>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001012949 RCV000530577 rs769034924 CA7331436 RCV002268168 |
579 | Y>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA390884675 rs1555372824 RCV000654390 |
580 | K>E | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000545455 rs1555372822 CA390884664 |
581 | A>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000240873 RCV001201114 rs749686370 CA7331435 |
582 | I>T | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1131691232 RCV000493199 |
583 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503633 RCV000464540 |
583 | E>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595410332 RCV000801122 CA390884653 |
583 | E>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001232648 rs1595410309 RCV002411857 |
584 | K>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000543973 rs1555372652 RCV002404573 CA390884183 |
588 | N>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060503662 RCV000466596 |
589 | K>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001013034 CA390884177 rs1595407206 RCV001364698 |
589 | K>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555372646 RCV000691080 CA390884168 RCV000575465 |
590 | C>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002413645 CA390884161 RCV000558799 rs1555372631 |
591 | S>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001363493 rs752424727 RCV001013145 COSM1477877 CA7331402 |
593 | S>L | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome breast DICER1 syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA390884143 rs1595406996 RCV000791921 RCV001013135 |
594 | V>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002402296 rs1060503611 CA16614678 RCV000470722 |
595 | D>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001201115 rs1892394875 |
596 | T>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001059735 rs1892394593 |
596 | T>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000240926 RCV000494138 rs886037678 |
596 | T>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7331400 RCV000573803 rs754852266 RCV000226251 |
596 | T>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001298530 rs754852266 |
596 | T>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390884129 RCV000654411 rs1277436466 |
597 | G>S | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000822241 RCV003223683 rs753796042 RCV001013190 CA7331399 |
598 | E>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002477454 rs766492523 RCV000654372 RCV001013118 CA7331398 |
599 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA390884111 RCV001013215 rs1595406806 |
600 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000687675 CA390884099 rs1060504962 |
601 | I>M | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001756106 rs760966585 RCV001013236 CA7331394 RCV000654420 |
601 | I>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs564224919 RCV000564668 CA7331395 RCV000704838 |
601 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1892391065 RCV001200944 |
602 | D>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16614370 rs1060503614 RCV003153646 RCV001013248 RCV000474757 |
603 | P>T | Hereditary cancer-predisposing syndrome DICER1 syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001013287 CA390884078 rs1249693564 |
605 | M>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000654422 RCV003318620 RCV001013288 rs1249693564 CA390884077 |
605 | M>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs759958601 CA7331391 RCV000538039 RCV000569184 RCV002268169 |
605 | M>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1892389194 RCV001037301 |
606 | D>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390884054 RCV001013268 rs1270338113 RCV000548401 |
608 | D>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001013269 CA390884052 rs1270338113 RCV000698469 |
608 | D>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001707530 CA158261 rs114947750 RCV000120634 RCV000231934 RCV000570821 |
609 | D>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001013271 rs1555372586 RCV000526246 |
609 | D>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000654396 RCV002406485 CA390884042 rs1336108562 |
610 | V>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000536557 CA390884041 rs1336108562 |
610 | V>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000493528 RCV000240861 rs886037679 |
610 | V>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000851399 rs1595406359 RCV002536180 |
613 | P>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390884022 RCV000812348 rs201553563 |
613 | P>A | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000456159 rs201553563 RCV002256272 CA7331388 |
613 | P>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1131691207 RCV000493225 RCV001200945 |
614 | Y>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696879 rs771634025 CA390884002 |
616 | L>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA390883986 rs1555372566 RCV002406751 RCV000797380 |
618 | P>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555372566 CA390883987 RCV000654442 |
618 | P>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001013346 rs1595406211 CA390883989 RCV001860737 |
618 | P>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390883982 RCV003293863 RCV001070152 rs1426451842 |
619 | D>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA390883973 rs1595406125 RCV001860739 RCV001013422 |
620 | D>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002411853 rs1892381031 RCV001231401 |
620 | D>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892380225 RCV002412030 RCV001319207 |
621 | G>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703553 RCV002406640 rs1369399401 CA390883966 |
621 | G>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000706425 RCV002406649 rs1566788407 |
622 | G>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555372556 RCV000654431 RCV002255157 CA390883963 |
622 | G>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001013452 rs778668024 RCV000539624 CA7331383 |
623 | P>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000493744 RCV001329418 CA7331382 RCV000240902 rs754818927 RCV000851400 |
624 | R>* | Variant assessed as Somatic; HIGH impact. Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA390883952 RCV001013413 rs754818927 |
624 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000705682 RCV001013416 CA7331381 RCV003327452 rs753746305 |
624 | R>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002409360 RCV001035800 rs1892378136 |
625 | V>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000554505 RCV001013500 rs375579739 RCV003319379 CA7331380 |
626 | T>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886037680 RCV000240940 RCV000494355 RCV000482671 |
627 | I>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001013476 CA390883937 rs1312425649 RCV001860740 |
627 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1892377602 RCV001338928 |
628 | N>H | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756051157 RCV000458073 RCV000569558 RCV003128809 CA7331379 |
628 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA390883928 RCV000761009 rs756051157 |
628 | N>T | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs750410087 RCV000528058 COSM1563024 RCV000565943 CA7331378 |
629 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10583216 RCV001013474 rs878855245 RCV000229468 |
631 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001062474 rs763129150 |
633 | H>R | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001013531 RCV001322591 CA390883899 rs1595405764 |
633 | H>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000654414 CA7331374 RCV000575691 rs765551529 |
635 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs886037682 RCV000240903 RCV001013656 |
637 | Y>* | DICER1 syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002411852 RCV001231312 rs1892140133 |
639 | A>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595397229 CA915946404 RCV000810068 |
639 | A>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390883553 rs1555372107 RCV000654375 |
640 | R>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892138746 RCV001295564 |
643 | S>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001013761 rs781253567 RCV000463332 CA7331357 |
645 | P>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001202788 rs1892138157 |
645 | P>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1238144220 RCV001303538 |
647 | T>I | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752761725 RCV001320166 |
649 | L>P | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595397085 RCV001314080 |
650 | A>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001013730 rs1315942457 CA390883411 RCV002550786 |
651 | P>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002422768 CA390883399 RCV000806838 rs1339343858 |
652 | K>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000546568 rs755150419 CA7331354 RCV001013829 |
652 | K>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000552179 rs1555372083 CA390883374 |
654 | R>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001224604 rs1892133207 |
655 | T>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002500842 CA7331353 RCV000851447 RCV000240942 rs754081635 RCV000494166 |
656 | R>* | Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000532187 CA7331352 RCV001013866 rs766707302 |
656 | R>Q | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001224469 rs1892131665 |
658 | L>F | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000566256 CA390883313 rs1347537043 |
659 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000654451 CA7331349 RCV003320689 rs151272381 RCV000573224 |
660 | D>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs773588526 CA390883305 RCV000793343 RCV001013937 |
660 | D>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA390883267 RCV000808806 rs1595396796 |
663 | F>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390883251 rs1555372066 RCV000654426 RCV002422425 |
664 | Y>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001860754 rs765014294 RCV001014007 CA265913397 |
666 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892127706 RCV003294232 RCV001305166 |
667 | L>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000546133 RCV001014058 rs1555372059 CA390883228 |
668 | Y>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390883230 rs1555372059 RCV000797391 |
668 | Y>H | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001208171 rs1892127098 |
668 | Y>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003321618 RCV000459832 rs768315203 RCV000565131 CA7331346 |
671 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000821531 CA390883194 rs1595396643 |
673 | S>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390883193 RCV001014067 rs1595396643 |
673 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001014100 rs1201056619 RCV000697938 CA390883186 |
675 | L>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002291609 rs878855246 RCV000226155 RCV000494079 RCV000851448 CA10583215 RCV001257540 |
676 | R>* | Hereditary cancer-predisposing syndrome Rhabdomyosarcoma Pleuropulmonary blastoma DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000560799 CA265913341 rs892971080 RCV000562090 |
676 | R>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001014126 rs892971080 RCV001221522 CA390883180 |
676 | R>Q | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA390883177 RCV000654364 rs1555372041 |
677 | A>T | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390883173 RCV000821585 rs1595396514 |
677 | A>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs377269341 CA16614248 RCV003168865 RCV000460461 |
678 | S>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV002305470 CA7331343 rs544623004 RCV000573377 RCV000230060 |
678 | S>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001014095 rs1595396426 CA390883164 |
679 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390883167 RCV001014090 rs1224940599 RCV000816458 |
679 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000476569 CA7331342 RCV003153645 RCV000571758 rs201883449 |
680 | V>I | Hereditary cancer-predisposing syndrome DICER1 syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001325020 rs752621393 CA265912795 |
682 | P>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390883136 rs752621393 RCV000654376 |
682 | P>Q | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1892041380 RCV001233857 RCV002418804 |
682 | P>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002420535 rs373914672 RCV000549330 CA7331329 |
683 | P>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1892040471 RCV001040870 |
683 | P>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001014203 CA7331327 rs142300389 |
684 | M>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1319798252 RCV000567909 CA390883127 RCV003231533 RCV001319972 |
684 | M>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7331326 rs142300389 RCV000694648 RCV002422520 |
684 | M>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000816435 CA7331325 rs769510378 RCV001014259 |
686 | C>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10586445 RCV000493794 RCV000384144 rs886037684 COSM393242 RCV000240958 |
688 | R>* | lung Variant assessed as Somatic; HIGH impact. large_intestine Hereditary cancer-predisposing syndrome DICER1 syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA390883102 rs886037684 RCV001014280 |
688 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002418815 CA7331324 RCV001238064 rs542398644 |
688 | R>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000467565 rs542398644 CA7331323 RCV000567747 |
688 | R>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002418680 rs1892035772 RCV001205037 |
689 | L>W | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001050882 rs1158581801 CA390883086 |
691 | E>Q | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390883077 RCV000567897 rs1555371838 RCV000685928 |
692 | R>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595393847 CA390883071 RCV002550791 RCV001014346 |
693 | V>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001045677 rs1892034034 |
694 | V>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001221070 CA7331322 rs770652592 RCV002418761 |
694 | V>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000794620 rs948156641 CA265912731 |
696 | L>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7331319 RCV000526994 rs376691754 RCV001014426 |
700 | E>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000537187 rs1555371818 CA390883012 |
702 | L>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs749428279 RCV000575302 CA7331318 RCV000692763 |
704 | K>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001071616 rs1555371642 |
707 | E>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390882941 RCV000562699 RCV000792504 rs1555371642 |
707 | E>K | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs911090648 RCV001351597 |
714 | P>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555371626 RCV000569448 |
717 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001342052 rs1891950190 |
718 | E>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000540972 RCV002291668 rs1555371628 CA390882809 RCV000570251 RCV001232577 |
718 | E>D | Hereditary cancer-predisposing syndrome Pleuropulmonary blastoma DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
rs886037685 RCV000240883 RCV000493808 |
719 | T>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001292877 rs1891948958 |
720 | V>missing | Euthyroid goiter [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071184 rs1595391320 |
722 | Y>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000824372 RCV002427076 CA265911996 RCV003238247 rs997546722 |
727 | D>G | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001052948 rs1891945229 |
729 | H>Q | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002429549 RCV000468577 rs748084431 CA7331296 |
729 | H>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000494351 rs1131691213 |
730 | D>FA* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001232224 rs1891944385 RCV002418795 |
730 | D>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003235131 RCV001014684 RCV000207391 RCV000460175 rs869025262 CA351599 |
731 | E>K | Hereditary cancer-predisposing syndrome Anophthalmia-microphthalmia syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390882645 RCV000654457 rs1555371605 |
732 | E>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555371596 RCV000555693 |
734 | T>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002429551 CA7331292 RCV000467449 RCV003144278 rs781312991 |
734 | T>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1595391144 CA390882626 RCV001014752 |
734 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390882616 rs1595391106 RCV001014720 |
735 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595391071 RCV000798663 RCV002495058 CA390882594 COSM3499493 RCV002424838 |
737 | P>L | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
rs778284198 RCV002424607 RCV000689435 CA7331290 |
737 | P>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs778284198 RCV001341110 |
737 | P>T | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200951 rs1891939787 |
742 | S>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001339412 rs758932000 |
743 | T>K | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001014855 CA7331288 rs758932000 RCV000471984 |
743 | T>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001014827 rs1595391019 CA390882534 |
744 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060503584 CA16614533 RCV000459736 |
745 | R>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886037686 CA10586443 RCV003325953 RCV000240921 RCV001200952 |
746 | R>G | DICER1-related tumor predisposition DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595390982 CA390882511 RCV000822539 |
746 | R>M | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10586469 rs886037688 RCV000240899 |
748 | C>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000494492 rs886037687 CA10586468 RCV000240962 |
748 | C>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200995 rs1891937602 |
749 | Y>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000493504 RCV000240935 RCV000480985 rs886037689 CA10586442 |
749 | Y>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003144377 RCV000556009 rs1309961626 RCV001014915 CA390882481 |
749 | Y>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555371565 RCV000541292 |
750 | P>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878855249 RCV000226942 RCV002429141 CA10583212 |
750 | P>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001047654 rs1891936587 |
750 | P>T | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891664027 RCV001200998 |
755 | E>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000561928 CA390882430 rs1555370957 |
755 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001060302 rs1595382605 RCV001015008 CA390882411 |
757 | L>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000654402 RCV002442363 CA390882416 rs1555370956 |
757 | L>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595382590 RCV000805598 CA390882409 |
758 | R>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001319276 rs1891663275 |
759 | D>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000471625 CA16614245 rs1060503621 |
760 | S>N | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001015055 rs1595382509 CA390882387 |
761 | Y>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000544525 rs774344152 CA7331259 |
763 | R>T | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1595382448 RCV003307469 RCV000802904 CA390882361 |
765 | D>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1891660573 RCV001200999 |
766 | Q>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001015048 CA265909890 RCV001307986 rs940468676 |
766 | Q>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001015120 RCV001065902 rs764001016 CA7331258 |
767 | P>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001327282 rs764001016 |
767 | P>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002447275 RCV001298119 rs1891659082 |
768 | C>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891659082 RCV002447304 RCV001304475 |
768 | C>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001037883 rs1891658242 |
771 | Y>H | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595382279 RCV000797990 CA390882290 RCV001217809 |
775 | M>I | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV000463888 rs1060503618 RCV001015199 CA16614532 |
776 | V>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000543737 CA390882268 rs1555370931 |
779 | T>A | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1891655325 RCV001237698 |
779 | T>I | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390882234 rs1131691210 RCV000493374 |
784 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595382195 RCV001015261 CA390882232 |
784 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390882218 RCV001015132 rs1595382167 |
786 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002442520 RCV000703508 rs1566777906 CA390882197 |
789 | R>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1891651807 RCV001051642 |
791 | K>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002445343 rs1891651218 RCV001066235 |
791 | K>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555370915 RCV000654467 |
792 | L>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595382041 CA390882169 RCV001201000 RCV000851404 |
793 | Y>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000566994 rs527568726 RCV002275034 CA7331251 RCV000463608 RCV002291640 COSM4923010 |
793 | Y>C | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome Pleuropulmonary blastoma DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000462319 rs1060503620 CA16614366 |
794 | P>S | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000546389 RCV001248835 CA7331250 rs755375348 RCV000563012 |
797 | D>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA390882141 RCV001050035 rs1191387730 |
798 | T>A | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001205137 rs1891647697 |
798 | T>I | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000493145 RCV002282086 RCV000240963 rs886037690 |
798 | T>N | Hereditary cancer-predisposing syndrome Pleuropulmonary blastoma DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891647697 RCV001229053 |
798 | T>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001346021 rs1191387730 RCV002431975 |
798 | T>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001873263 CA390882131 RCV001015397 rs1595381964 |
799 | T>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000493596 RCV001201001 rs1131691228 |
800 | R>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000564417 CA390882129 rs1555370905 |
800 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000463309 CA16614241 RCV003168867 rs1060503599 |
801 | C>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001226318 rs1891645776 |
802 | F>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891645266 RCV001212670 |
803 | G>E | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891645525 RCV001201002 |
803 | G>R | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595381910 CA390882096 RCV001316781 RCV001015263 |
804 | I>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201003 rs1891644496 |
805 | L>P | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595381829 RCV001015267 |
805 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749834289 CA7331249 RCV002298606 COSM74376 RCV002446842 RCV000467724 |
806 | T>M | ovary Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001056435 rs1891643374 |
809 | P>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390882064 RCV001232461 rs1555370881 RCV000566847 |
810 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002442706 CA7331246 rs750049051 RCV000808827 |
812 | Q>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA390882049 rs750049051 RCV000556511 |
812 | Q>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000807316 rs1354652606 CA390882033 |
813 | I>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000805119 rs1595380919 CA390882016 |
815 | H>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595380919 CA390882017 RCV001015565 RCV001860798 |
815 | H>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201006 rs1891613678 |
817 | P>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891614679 RCV001201005 |
817 | P>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001306802 rs774540239 |
817 | P>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003238321 RCV001210528 rs774540239 |
817 | P>T | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390881988 RCV001201008 rs1595380836 RCV000023525 |
819 | Y>* | Euthyroid goiter DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001119476 rs1891612740 |
819 | Y>C | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390881994 RCV000562879 rs1238286921 RCV001057107 RCV001201007 |
819 | Y>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1595380820 CA390881986 RCV000850173 |
820 | T>A | Medulloblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001337337 rs1034912224 |
821 | R>H | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891610973 RCV001201009 |
821 | R>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002447157 rs1328529319 RCV001231535 CA390881949 |
826 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA390881938 rs1595380751 RCV000817521 |
827 | I>M | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001341400 rs1891610086 RCV002447402 |
827 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555370828 CA390881928 RCV000654378 |
829 | I>T | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA265909472 rs1038939677 RCV000654368 RCV002424547 |
829 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1060503613 CA16614235 RCV001015700 RCV000465553 RCV000765198 |
832 | K>E | Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7331228 RCV001015750 RCV000340356 rs769292296 RCV003237819 |
832 | K>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002427026 RCV000817417 CA7331229 rs780581268 |
832 | K>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001015751 RCV000689462 rs1566777030 |
833 | K>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002431959 rs1891607050 RCV001342454 |
834 | S>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000476393 rs1060503628 |
836 | F>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566777017 RCV000689913 CA390881883 RCV001015786 |
836 | F>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001306280 RCV002430114 rs1891606034 |
837 | M>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002429623 RCV001048483 RCV003127601 rs1891606303 |
837 | M>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001203637 RCV002429870 rs387906934 |
839 | S>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_065301 rs387906934 RCV001201061 CA129336 RCV000023526 RCV002426517 |
839 | S>F | Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome MNG1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1891604387 RCV001034941 RCV002454262 |
841 | Q>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390881848 RCV000706036 RCV001015810 rs1417502290 |
841 | Q>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390881833 RCV001214651 rs1555370815 RCV000561754 |
843 | L>F | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1595380583 RCV001015859 RCV001860804 CA390881829 |
844 | E>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390881820 rs1182299033 RCV000654374 |
845 | L>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7331225 RCV000566427 RCV000560280 RCV000765197 rs201212908 |
846 | I>V | Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000462537 rs1060503641 CA16614525 RCV002429550 |
847 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390881787 rs1595380501 RCV001015882 RCV002551787 |
847 | T>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201062 rs1891601794 |
847 | T>NFKHS | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390881788 rs1595380501 RCV001015879 |
847 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001015865 CA390881785 rs1595380469 |
848 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002430097 rs1891600112 RCV001299560 |
850 | H>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390881720 rs1555370802 RCV001308022 RCV000562908 |
852 | Y>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001650978 RCV000563365 rs61729795 CA332143 RCV000203701 RCV000120635 |
853 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555370794 COSM959267 CA390881675 RCV000654423 |
854 | F>L | Variant assessed as Somatic; MODERATE impact. endometrium DICER1 syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA390881694 rs1595380414 RCV000814582 |
854 | F>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001015964 rs1595380387 CA390881660 |
855 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002430018 RCV001238307 rs1891597329 |
856 | H>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390881624 rs1290998883 RCV002429929 RCV001218129 |
857 | I>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7331221 RCV000707526 rs765333464 |
859 | R>Q | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000231736 CA10583210 RCV001015991 rs144649926 |
859 | R>W | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
CA390881520 RCV000810534 rs1595380292 |
863 | P>S | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA265909388 RCV001016036 rs891810189 RCV001247546 |
864 | A>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000796055 rs1566776650 CA390881431 |
868 | K>Q | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001016048 rs1566776633 RCV003153802 CA390881379 RCV000686840 |
870 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7331219 RCV000792609 rs759827733 RCV001016106 |
871 | D>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002438723 rs1891592805 RCV001318688 |
871 | D>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000528728 RCV002438496 CA390881336 rs1555370776 |
871 | D>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000120636 RCV003315746 rs149242330 RCV000226630 COSM959266 RCV002227064 CA158264 RCV000567312 |
872 | A>T | Hereditary cancer-predisposing syndrome endometrium Pleuropulmonary blastoma DICER1 syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA265909368 RCV002424581 rs890402869 RCV000685180 |
873 | D>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390881287 rs1555370765 RCV000538878 RCV002438497 |
873 | D>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000477212 RCV000570993 CA7331217 rs774672421 |
873 | D>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001815409 RCV000549111 CA390881252 rs1555370761 |
875 | A>S | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1411395826 CA390881205 RCV001016088 |
877 | C>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001343066 rs1891587886 |
880 | P>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201064 CA390881127 RCV000851407 rs1595380007 |
881 | L>P | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000795998 rs1293281390 RCV001016187 CA390881134 |
881 | L>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1566776487 RCV000693049 CA390881116 |
882 | N>D | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000654399 RCV001016200 CA390881097 rs1407338094 |
883 | V>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000797312 CA390880976 RCV001016220 rs1595379417 |
885 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595379417 RCV001201780 RCV002451413 |
885 | N>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001342590 rs1891569104 |
886 | D>G | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000575011 rs139441077 CA7331194 RCV000542681 |
887 | S>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000228429 RCV001016236 rs878855251 CA10583209 |
887 | S>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000654456 RCV001016145 RCV003322805 CA7331193 rs139441077 |
887 | S>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA390880853 RCV001016275 rs1595379342 |
891 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390879817 RCV001016282 RCV001226546 rs1595379319 |
892 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs760009604 CA390879743 RCV003302886 RCV000552892 |
894 | F>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001194606 rs1891565957 |
896 | F>missing | Euthyroid goiter [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001310040 rs373729361 |
897 | M>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000458127 CA16614363 rs373729361 RCV001016300 |
897 | M>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
rs777174247 RCV001860823 CA7331191 RCV001016343 |
900 | I>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001016242 rs1595379213 CA390879614 |
903 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs770335698 RCV002440384 RCV000654400 CA7331190 |
906 | R>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001016391 CA10583208 RCV000232332 rs150510758 |
906 | R>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000531168 rs150510758 CA390879591 |
906 | R>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000574505 rs200408568 RCV002225620 RCV000472819 CA7331188 |
907 | I>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002429728 rs1178414622 RCV001068004 CA390879588 |
907 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001205943 rs1891561708 |
908 | G>D | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000697264 RCV002424670 rs1167073557 CA390879577 |
909 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA390879564 rs1595379089 RCV000807213 RCV001016424 |
911 | S>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7331187 RCV000555481 RCV001016430 rs771697618 |
911 | S>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA390879551 RCV002434008 rs1595379041 RCV000819504 |
913 | K>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060503649 CA390879549 RCV001016446 |
913 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002436466 rs1060503649 CA16614518 RCV000472190 |
913 | K>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1566775820 RCV001016462 RCV000699754 CA390879541 |
914 | Y>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003223655 RCV001016470 CA390879536 rs1179517249 RCV000529269 |
915 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7331186 rs747825442 RCV002256658 RCV001046004 |
916 | K>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000240925 CA10586439 RCV000494012 rs886037692 |
917 | E>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs377326167 CA7331185 RCV001016501 RCV000802019 |
918 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001315806 rs1891556732 |
918 | T>I | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs377326167 CA7331184 RCV000572375 RCV000229873 RCV003235158 |
918 | T>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000822405 rs1595378895 CA390879508 |
919 | P>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001351268 rs1595378895 |
919 | P>R | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390879490 rs1595378865 RCV001860834 RCV001016533 |
922 | F>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1891554979 RCV001201067 |
924 | L>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891554648 RCV001201068 |
925 | E>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891554361 RCV001206832 RCV003294005 RCV003153943 |
925 | E>G | Hereditary cancer-predisposing syndrome DICER1 syndrome Ovarian cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891554648 RCV001211417 |
925 | E>K | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000460548 RCV002436465 rs1060503645 RCV001001073 CA16614224 |
926 | D>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390879462 rs1060503645 RCV000707720 |
926 | D>N | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1891553550 RCV001314952 |
928 | Q>E | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218646 rs1891553312 |
929 | D>E | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016610 rs1595378809 CA390879431 |
930 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001323003 rs1595374361 |
935 | R>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs768555883 RCV001201070 |
936 | Y>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM5453158 CA390879303 rs1595374327 RCV001016656 |
937 | R>H | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
rs1891411889 RCV001243906 |
939 | F>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001204613 rs1891412150 |
940 | D>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16614358 rs1060503588 RCV000467203 |
941 | Q>E | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002436801 RCV001207894 rs1891411377 |
941 | Q>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891411136 RCV001201071 |
942 | P>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000004727 RCV000493701 rs137852978 CA212577 COSM3499490 RCV000240862 |
944 | R>* | Variant assessed as Somatic; HIGH impact. Pleuropulmonary blastoma (ppb) Hereditary cancer-predisposing syndrome Pleuropulmonary blastoma DICER1 syndrome [NCI-TCGA, Ensembl, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000654383 CA390879216 rs1555370340 COSM959265 |
944 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium DICER1 syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001037513 CA390879184 RCV001016773 rs1595374234 |
949 | D>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001016770 CA16614220 RCV000467314 rs1060503636 |
952 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA390879148 RCV001065477 RCV000566505 rs1060503636 |
952 | T>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA390879136 RCV001360848 rs745810853 RCV001016791 |
953 | D>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001201073 rs1891405883 |
955 | T>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001059720 rs1891405613 |
955 | T>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002436558 CA390879089 RCV001042463 rs1167965153 |
955 | T>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs886037693 RCV000240900 |
955 | T>P | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1397948000 RCV001201074 |
956 | P>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886037694 RCV000240927 |
956 | P>Q | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503634 RCV000466824 CA16614355 |
957 | L>F | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7331154 RCV000226550 rs752905540 RCV000562549 RCV003128610 |
958 | S>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1891403160 RCV001201075 |
959 | K>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1335588078 RCV001337706 |
959 | K>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040366 rs1891402881 RCV002434453 |
959 | K>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs917082902 RCV000691598 CA265907843 |
963 | P>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs886037695 RCV000240864 RCV000494157 |
963 | P>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201076 rs1891400285 |
968 | F>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001775704 RCV000233100 CA10583207 rs878855253 |
969 | A>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000572780 CA390878980 rs1555370302 |
970 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595373932 CA390878961 RCV001016921 |
972 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002438499 rs1555370297 RCV000533030 CA390878951 |
973 | K>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201077 rs1891397547 |
976 | Y>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000791907 rs1595373885 CA390878921 |
977 | N>K | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001349927 CA16614350 RCV000462016 RCV002436464 rs1060503631 |
982 | N>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
CA390878890 rs1376668585 RCV000696284 RCV002440481 |
982 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001205859 RCV002436792 rs1267003109 |
983 | L>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891393548 RCV001313847 |
984 | N>K | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750932552 RCV000563512 RCV001755707 RCV000465498 CA7331148 |
984 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000654466 rs1555370268 |
985 | Q>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000468167 rs1060503627 |
985 | Q>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201117 rs1891391668 |
989 | D>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001320200 rs1891391399 |
989 | D>E | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201116 rs1891391133 |
990 | V>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003294192 RCV001294587 CA390878837 rs1443445976 |
990 | V>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1595373655 CA390878807 RCV000804890 |
992 | H>Y | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001017801 rs1595372911 CA390878650 |
996 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16614516 RCV000851456 RCV000465236 RCV003230265 rs1060503605 |
1003 | R>* | Pleuropulmonary blastoma DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390878423 rs1131691189 RCV000492911 RCV000524088 RCV001201120 |
1007 | Q>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390878425 RCV001018069 rs1131691189 |
1007 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772243498 RCV000654436 CA265907590 RCV001766425 RCV001018217 |
1011 | A>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1891358446 RCV001201121 |
1012 | L>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001244995 rs1891359216 |
1013 | P>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595372734 RCV000801563 CA390878276 |
1014 | L>S | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001018288 rs1595372666 |
1015 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891358172 RCV001201122 |
1016 | S>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689357 CA390878236 RCV002442435 rs1566772412 |
1016 | S>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001215462 rs1891356787 |
1020 | R>K | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000493873 CA390878017 RCV001201123 RCV000521958 rs1131691225 |
1025 | E>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001018471 CA390878013 rs1191384264 RCV000537842 |
1025 | E>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002319564 RCV000703131 rs763715930 CA7331125 |
1026 | S>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001065303 rs1891354481 RCV002319657 |
1026 | S>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891354217 RCV001201124 |
1028 | Q>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201125 rs1891353130 |
1031 | Q>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891309406 RCV001066995 |
1035 | P>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201127 RCV001053057 rs1891308608 |
1038 | C>F | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003307922 rs1891308319 RCV001068513 |
1039 | A>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891307778 RCV001050565 RCV003307853 |
1040 | I>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390876885 RCV000685635 rs1555370052 RCV000497463 |
1040 | I>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001018740 rs1595371223 CA390876853 |
1042 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390876858 rs1555370050 RCV000561799 |
1042 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000465152 CA16614213 RCV003317230 RCV000564082 rs1060503592 |
1043 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000230898 CA10583206 rs878855255 |
1045 | A>P | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001018763 rs878855255 CA390876826 |
1045 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886037696 RCV000240905 |
1046 | S>E | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201128 rs1891304588 |
1048 | W>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390876746 RCV000811982 rs1595371059 |
1051 | A>P | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1566771563 RCV000691310 CA390876705 |
1054 | L>P | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1413756805 RCV001040670 |
1055 | P>R | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390876668 RCV000809109 rs1595370976 |
1057 | I>T | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002257985 RCV000819487 CA7331089 rs769846317 |
1057 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA390876660 RCV000558190 rs1555370024 |
1058 | L>I | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886037697 RCV000240943 |
1059 | Y>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595370930 RCV001018978 CA390876644 |
1059 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1891300902 RCV001201129 |
1060 | R>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687493 rs1566771488 CA390876631 |
1060 | R>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001051038 rs1595370875 CA390876627 RCV001019024 |
1061 | L>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390876613 RCV001019050 rs1398724408 |
1062 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA390876559 RCV001019090 rs1595370791 |
1065 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001041178 rs1891298079 |
1066 | T>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001069941 rs1313061695 RCV001019116 CA390876554 |
1066 | T>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390876471 rs1595370700 RCV001019300 |
1073 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16614209 rs1060503653 RCV002446843 RCV000472928 |
1074 | T>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060503653 RCV001338729 |
1074 | T>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595370679 RCV001019309 CA390876453 |
1075 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs778494781 RCV001019315 CA7331084 RCV000476968 |
1076 | S>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA390876430 RCV001224916 rs867768809 RCV000569044 |
1076 | S>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs373412959 RCV000654460 RCV001019320 RCV003325209 RCV003153790 CA7331083 |
1077 | D>N | Hereditary cancer-predisposing syndrome Pleuropulmonary blastoma DICER1 syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1488726216 RCV001301674 |
1078 | A>T | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201131 rs1891292616 |
1080 | V>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001047070 CA390876381 RCV001019351 rs1595370568 COSM3786392 |
1080 | V>M | Variant assessed as Somatic; MODERATE impact. pancreas Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
|
RCV000654421 RCV001019425 CA390876325 rs1291112028 |
1083 | R>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002323756 RCV000459111 CA16614650 rs1060503616 |
1083 | R>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000551807 rs180918578 RCV001019496 CA265906990 |
1087 | A>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA265906985 RCV000525561 rs180918578 RCV000561162 |
1087 | A>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001056797 RCV003283924 rs1891290739 |
1087 | A>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000471385 rs180918578 RCV000995246 RCV000572177 CA7331079 |
1087 | A>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002325593 RCV000813837 rs376110719 CA7331077 |
1088 | D>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886037698 RCV000851457 CA10586433 RCV000240881 |
1091 | Y>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1442769827 CA390876128 RCV001019562 RCV000540270 |
1091 | Y>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001200954 rs1891196616 |
1093 | N>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000493882 RCV000240906 rs886037699 |
1093 | N>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001019596 rs1595368074 CA390876109 |
1093 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1891196863 RCV001200953 |
1094 | L>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200955 rs1891196015 |
1097 | G>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001324383 rs1466088737 CA390876056 |
1097 | G>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390876053 rs1566769651 RCV000706333 |
1097 | G>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001019751 rs1566769625 CA390876028 RCV000695400 |
1099 | K>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390876024 RCV000690410 RCV001019754 rs1356351330 |
1099 | K>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs886037700 RCV000240946 RCV000493122 |
1100 | K>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886037700 RCV002320325 RCV001064464 |
1101 | S>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000553084 RCV001019816 rs779748717 CA7331061 |
1101 | S>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1891192866 RCV001313333 |
1101 | S>P | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891190597 RCV001243782 RCV002322154 |
1102 | I>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001296637 rs750159753 CA265906347 |
1102 | I>F | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7331059 rs750159753 RCV000819182 RCV001019821 |
1102 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001200956 rs1891190344 |
1103 | D>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566769521 CA390875971 RCV000696513 |
1103 | D>V | Variant assessed as Somatic; MODERATE impact. DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001308932 rs1891190032 |
1104 | S>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390875952 rs1555369738 RCV000654384 |
1104 | S>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200957 rs1891189470 |
1105 | K>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001064860 rs1891189175 |
1105 | K>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001219876 rs761613375 CA7331057 |
1106 | S>Y | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001070402 CA7331056 rs751551790 |
1108 | I>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002322294 rs1566769439 RCV001347014 |
1110 | I>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7331054 RCV000458245 RCV000561530 rs759760077 |
1110 | I>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002325401 rs1566769439 RCV000697698 CA390875890 RCV001200958 |
1110 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003223612 RCV000462299 CA158270 RCV000562797 RCV000120638 rs587778229 |
1112 | N>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001020028 rs143841809 RCV001873326 CA7331053 |
1113 | S>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA390875855 rs1595367700 RCV001020026 |
1113 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000476785 CA7331052 rs143841809 RCV000571981 |
1113 | S>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1278843875 CA390875841 RCV000687116 RCV002325365 |
1114 | S>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1595367651 CA915946375 RCV001234803 RCV001020045 |
1115 | S>W | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691215 RCV002527071 RCV000493717 |
1116 | A>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000468408 rs1060503617 CA16614643 |
1117 | E>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs773410751 RCV000471510 RCV002323757 CA7331051 |
1118 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1595367595 CA390875791 RCV001020066 |
1118 | N>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390875760 rs1555369701 RCV000654468 |
1120 | N>S | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000552304 CA390875737 rs1555369696 RCV002456260 |
1122 | C>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001218556 RCV002451494 rs1891180381 |
1122 | C>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002307595 RCV002458238 RCV000692821 CA7331050 rs534996867 |
1124 | H>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000810174 rs534996867 CA390875704 |
1124 | H>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000234636 rs748581847 CA7331049 RCV000568324 |
1125 | S>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1296404230 RCV002456397 CA390875683 RCV001308401 |
1126 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000808051 CA390875674 rs1595367457 |
1126 | T>I | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000476694 RCV000564833 rs567895583 RCV001292761 CA7331047 |
1127 | I>S | Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA7331048 RCV000530594 rs779530679 RCV001020135 |
1127 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM3956335 CA390875642 rs748728275 RCV000701411 |
1130 | E>G | lung DICER1 syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000654471 rs1555369685 CA390875645 |
1130 | E>K | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000468980 RCV000493026 CA7331045 rs200651335 |
1131 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1891175661 RCV001214988 |
1132 | A>T | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390875611 RCV001047142 RCV000563850 rs1555369675 |
1133 | A>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595367292 RCV001020207 CA390875598 |
1134 | H>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001020210 RCV001243501 rs1159674119 CA390875591 |
1134 | H>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1595367266 RCV002453890 RCV000821593 |
1135 | Q>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390875584 RCV000702845 rs755711684 RCV001020218 |
1135 | Q>E | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001020217 rs755711684 RCV000654377 CA7331044 |
1135 | Q>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001293870 rs1891173247 RCV001200959 |
1136 | G>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390875564 RCV002460110 RCV000818380 rs888196326 |
1136 | G>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002454291 RCV001041099 rs1891172275 |
1137 | A>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001020236 CA390875540 rs1248977051 |
1138 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000698120 rs1566769081 RCV002458269 |
1139 | R>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7331043 rs750104632 RCV000456808 RCV000572785 |
1139 | R>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000570654 RCV002298607 rs780815020 RCV002291641 CA7331042 RCV000477099 |
1141 | S>F | Hereditary cancer-predisposing syndrome Pleuropulmonary blastoma DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA390875513 RCV001860979 rs1595367126 RCV001020264 |
1141 | S>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1212563071 RCV001020269 CA390875498 |
1142 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390875504 RCV000699665 rs1257619891 RCV002458275 |
1142 | S>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs375211466 RCV001063232 RCV002451271 CA7331041 |
1143 | L>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001557273 rs139786661 RCV000564869 RCV000205316 CA349475 |
1143 | L>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA390875467 RCV001020294 rs1595367030 |
1144 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1891168109 RCV001223193 |
1144 | E>G | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891167536 RCV001296891 |
1145 | N>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1240541454 RCV000807430 RCV002256530 CA390875449 |
1146 | H>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1566769004 CA390875443 RCV000686020 |
1146 | H>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001295202 rs1891166339 |
1147 | D>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1304695583 RCV001020325 RCV000557215 CA390875392 RCV001217074 CA390875394 |
1149 | M>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1566768980 CA390875381 RCV000701612 |
1150 | S>F | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001559109 RCV001200960 RCV000564921 rs1555369632 |
1151 | V>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595366928 RCV001020345 CA390875354 RCV000812130 |
1152 | N>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs762999390 RCV003278975 RCV000654401 CA390875345 |
1153 | C>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16614331 RCV000468990 rs1060503607 |
1153 | C>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001020348 rs762999390 RCV001245450 CA7331039 |
1153 | C>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA390875332 RCV000530978 rs1555369626 |
1154 | R>I | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003231647 CA7331038 RCV001020364 RCV000545736 rs192822778 |
1154 | R>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000799435 CA390875334 rs1555369626 |
1154 | R>T | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595366822 RCV001220845 RCV002460138 |
1155 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595366822 CA390875327 RCV000811508 |
1155 | T>P | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs760950917 RCV001020368 RCV000206633 CA350644 |
1156 | L>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs949633145 RCV001020385 CA265906193 RCV000654371 |
1158 | S>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1891158824 RCV001237596 |
1159 | E>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595366716 CA390875262 RCV001020396 |
1159 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7331035 RCV000654385 rs145693584 RCV001020391 |
1159 | E>K | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7331034 RCV003318626 rs145693584 RCV001020392 RCV000691897 |
1159 | E>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs774583162 RCV000228406 CA7331033 RCV000565593 |
1160 | S>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1891157230 RCV001200961 |
1161 | P>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001020408 CA390875241 rs1595366672 |
1161 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000797641 RCV002298777 RCV001020412 rs1287752405 CA390875239 |
1162 | G>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001304177 CA390875188 CA390875186 rs372581591 RCV001020440 RCV001051843 RCV003166720 |
1165 | H>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs368588781 RCV001051457 RCV003151263 CA390875181 RCV001020444 |
1166 | V>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA390875176 RCV000803509 rs1595366518 |
1166 | V>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000232173 rs368588781 RCV002450710 CA7331030 |
1166 | V>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA390875162 rs878855258 RCV000544961 |
1167 | E>D | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000654391 RCV001020452 rs1456267980 CA390875173 |
1167 | E>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001200962 rs1891152911 RCV001200963 |
1169 | S>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390875131 RCV001219631 rs1484416477 |
1170 | A>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390875135 RCV001020478 RCV000706636 rs1566768694 |
1170 | A>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886037701 RCV000494025 RCV000240884 |
1172 | L>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555369579 RCV000494632 |
1173 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002451144 CA16614196 rs769329149 RCV000472462 |
1173 | T>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1595366319 RCV001020522 CA390875071 |
1175 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000537925 rs1555369577 RCV002456261 CA390875062 |
1176 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1486689185 CA390875052 RCV001860988 RCV001020529 |
1177 | G>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001020528 rs1486689185 CA390875054 RCV001206829 |
1177 | G>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390875049 rs1160985143 RCV001050173 RCV000563568 |
1177 | G>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA7331028 rs780952666 RCV000547588 |
1178 | L>F | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1131691191 RCV000493223 RCV001200964 |
1179 | S>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16614329 RCV000575641 RCV000464700 rs1060503585 |
1179 | S>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000240923 rs886037702 |
1179 | S>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000240949 RCV000492848 rs886037703 |
1180 | Y>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000627259 RCV000494658 RCV000240887 rs886037704 CA10586427 |
1180 | Y>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1891145931 RCV001203402 |
1180 | Y>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595366194 RCV000810349 CA390875009 |
1181 | N>D | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1891145028 RCV001322650 |
1182 | Q>P | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150514959 CA390874957 RCV000688639 |
1185 | A>P | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA158273 RCV000989255 RCV003325950 rs150514959 RCV001811980 RCV000120639 RCV000573896 |
1185 | A>T | DICER1-related tumor predisposition Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1891143334 RCV001340268 |
1185 | A>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001206258 rs1891143081 RCV002339524 |
1186 | N>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201523588 RCV000804017 CA7331026 RCV002453781 |
1186 | N>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs201523588 RCV000536034 CA390874940 RCV001020602 |
1186 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7331025 RCV001067991 rs559078811 RCV002258125 |
1187 | G>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001321996 rs1891142121 RCV002341662 |
1187 | G>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891141369 RCV002451555 RCV001232839 |
1188 | S>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042721 rs1891140921 RCV002454300 |
1189 | Y>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595366040 CA390874889 RCV001860992 RCV001020630 |
1190 | D>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886037705 RCV000240911 |
1193 | N>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1516568 CA390874848 RCV000690265 RCV000765196 RCV002257932 COSM6141742 rs1288723916 |
1193 | N>S | lung Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7331023 rs766545351 RCV001323412 |
1194 | R>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001200965 RCV001020659 rs1595365941 |
1195 | D>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003163552 rs372344332 RCV001205036 |
1195 | D>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390874827 rs1555369546 RCV000569208 |
1195 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1566768212 RCV000698895 CA390874787 |
1197 | C>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886037706 RCV000492875 RCV000240953 |
1197 | C>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs966682402 RCV002256646 RCV001037112 CA265906095 |
1200 | N>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001873336 RCV001020681 CA390874746 rs1595365849 |
1200 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000689751 rs1566768179 CA390874735 |
1201 | Q>E | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002451681 rs1891135454 RCV001303355 |
1201 | Q>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595365826 CA390874720 RCV001020703 RCV001229843 |
1202 | L>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201011 RCV000056333 rs886037651 |
1204 | Y>missing | Rhabdomyosarcoma, embryonal, 2 DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891134568 RCV002451598 RCV001245606 |
1204 | Y>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002454283 rs748134383 RCV001039466 |
1205 | Y>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886050942 RCV000386930 CA10635644 RCV001020733 |
1206 | K>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs761954648 RCV001240686 CA7331018 |
1206 | K>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000802142 rs1595365751 CA390874648 |
1207 | Q>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595365709 RCV001056607 |
1210 | P>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000820678 RCV002460113 rs1595365709 CA390874609 |
1210 | P>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000466992 CA16614326 RCV000570577 rs200925349 |
1210 | P>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000571532 CA390874604 CA16614325 RCV001040395 rs764470378 RCV000474677 RCV002451142 |
1211 | V>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7331016 rs764470378 RCV000525096 RCV000568526 |
1211 | V>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000539806 RCV002456262 CA7331015 rs763415569 |
1212 | Q>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs965289045 CA265906047 RCV000554547 RCV001020776 RCV003228954 |
1213 | P>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000570947 RCV003229839 CA7331014 RCV000528300 rs776023608 |
1214 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000654473 rs769277842 CA7331013 |
1214 | T>I | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1891128178 RCV001201012 |
1216 | S>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001067925 rs1891127602 |
1217 | Y>C | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390874519 rs1197755223 RCV001020808 RCV000540029 |
1218 | S>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001213975 rs1197755223 RCV003294032 |
1218 | S>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1197755223 CA390874521 RCV000706017 |
1218 | S>Y | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001020813 CA390874512 rs1595365566 RCV000816551 |
1219 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10586424 RCV000240890 RCV000494215 rs886037707 COSM4838605 |
1220 | Q>* | Variant assessed as Somatic; HIGH impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
rs776020604 RCV002458160 CA7331011 RCV000654404 |
1220 | Q>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776020604 CA265906032 RCV003307884 RCV001057240 |
1220 | Q>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001201015 rs1595365532 RCV001201014 RCV000851412 |
1222 | L>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201016 rs746674986 |
1223 | Y>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595365501 RCV000812241 CA390874447 |
1223 | Y>C | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16614512 RCV002451141 RCV003114590 RCV000461690 rs1006671935 |
1223 | Y>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555369495 CA390874429 RCV000554774 |
1224 | S>N | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1891123604 RCV001346856 |
1224 | S>R | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390874404 rs184830847 RCV001201018 RCV002345931 RCV001201017 RCV000494286 RCV000851460 CA390874402 |
1225 | Y>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs146584765 RCV000229165 RCV002285289 RCV000570553 CA7331008 |
1225 | Y>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002347945 RCV000240916 RCV003311728 rs748087536 CA10586423 |
1226 | E>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs779062746 RCV000561188 RCV000823417 CA7331005 |
1226 | E>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7331006 RCV000569335 rs748087536 RCV003321617 RCV000464309 |
1226 | E>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001047434 rs748087536 |
1226 | E>Q | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001020869 rs750457254 RCV000533075 CA7331003 |
1227 | N>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1891121442 RCV003169697 RCV001347362 |
1227 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002343512 RCV000699486 CA390874351 rs1566767799 |
1230 | Q>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1891118949 RCV001294667 |
1231 | P>R | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595365364 RCV001338450 RCV001020898 CA390874327 |
1232 | S>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060503597 RCV000469516 RCV003168866 CA16614642 |
1232 | S>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000802273 rs1595365327 CA390874300 RCV002345790 |
1233 | D>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390874309 RCV000564362 rs1454503348 RCV000532307 |
1233 | D>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001064593 rs1595365295 CA390874287 RCV001020928 |
1235 | C>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001861001 CA390874284 COSM3719844 rs1464737401 RCV001020930 |
1235 | C>Y | Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue DICER1 syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV001063321 rs1891116180 |
1236 | T>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001313785 RCV002255646 rs1891115795 |
1236 | T>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001351267 rs1891115795 |
1236 | T>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001020936 CA7331001 RCV001065079 rs757460313 |
1237 | L>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060503603 RCV001020955 CA16614641 RCV000472528 |
1238 | L>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs751765488 CA7331000 RCV002348798 RCV001236417 |
1239 | S>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA390874263 RCV001020960 RCV002298836 rs1595365211 |
1239 | S>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000796418 CA390874265 rs751765488 |
1239 | S>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001225057 rs1891113792 |
1240 | N>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000765195 RCV003317278 RCV000547038 RCV000567535 rs764415288 CA7330999 |
1241 | K>R | Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886037708 CA10586422 RCV000493027 RCV000494497 CA390874237 RCV000240955 |
1242 | Y>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1273768047 RCV000561586 RCV001066346 CA390874243 |
1242 | Y>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000562517 rs561584807 CA7330998 RCV000556615 |
1243 | L>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA390874197 rs1595365092 RCV002345859 RCV000814379 |
1248 | N>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001048109 rs1891110395 |
1249 | K>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16614189 RCV001021028 RCV000459857 rs527872690 |
1249 | K>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1891110127 RCV001201019 |
1250 | S>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210905 rs1595365057 |
1251 | T>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201967 CA390874182 rs1595365057 |
1251 | T>P | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1891108676 RCV001209881 RCV002348686 |
1255 | S>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001203275 rs199526737 |
1255 | S>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891107894 RCV002346239 RCV001034837 |
1256 | P>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001021086 CA390873571 CA390873568 RCV001069064 rs1392282413 |
1257 | V>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001021100 rs144095207 RCV000467810 CA7330994 |
1258 | M>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1595364927 RCV002345820 RCV000807324 CA390873520 |
1259 | A>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7330992 RCV001021113 rs763425076 RCV000463245 |
1260 | V>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA390873513 RCV001021114 rs763425076 |
1260 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000240892 rs886037709 |
1260 | V>R | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001205268 rs1891104276 |
1261 | M>I | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891104541 RCV001065925 |
1261 | M>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001021130 RCV001861007 CA390873477 rs1595364864 |
1262 | P>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs139346443 CA7330989 RCV000459272 RCV000569382 RCV003128808 |
1264 | T>M | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1891101628 RCV001201020 |
1265 | T>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002360754 RCV000693400 CA7330987 rs368610812 |
1266 | D>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000699111 rs1183908844 RCV002352178 CA390873425 |
1266 | D>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs368610812 RCV001247801 |
1266 | D>G | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000459002 CA16614324 rs1060503654 RCV001021163 |
1266 | D>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001065699 rs1891099996 |
1267 | T>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001021194 CA390873411 rs1277796753 RCV001223924 |
1269 | Q>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA390873404 RCV002352189 RCV000700769 rs1566767339 |
1270 | V>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1249975103 RCV001021210 RCV003322815 RCV000702550 CA390873396 |
1271 | L>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002360769 RCV000695971 rs1566767268 CA390873387 |
1272 | K>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs151197809 RCV001021216 RCV000534087 CA265905929 |
1272 | K>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV002357103 rs1891096853 RCV001303270 |
1274 | R>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7330982 RCV001021232 rs778033280 |
1275 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7330983 RCV000225860 RCV000561792 rs751764482 |
1275 | M>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs753013678 RCV000977640 CA7330980 |
1276 | D>E | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001021234 CA7330981 RCV000472875 rs758636143 |
1276 | D>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002363556 rs1891095978 RCV001037453 |
1276 | D>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001021237 CA390873363 rs758636143 |
1276 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001021251 rs1595364529 RCV001486891 CA390873345 |
1279 | Q>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595364520 RCV001021253 CA390873341 |
1279 | Q>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390873337 RCV000654464 rs148696745 |
1280 | S>C | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001788399 rs1595364485 RCV001021258 RCV001068661 CA390873334 |
1280 | S>I | Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002357141 rs1891093571 RCV001319275 |
1280 | S>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1306948597 CA390873326 RCV000549005 RCV003278917 |
1281 | P>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000229624 RCV002247681 RCV001021281 CA7330977 rs754352488 |
1283 | I>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000527104 rs548255758 RCV002279361 RCV000576059 CA7330978 |
1283 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7330976 rs563395930 RCV000654497 RCV000571006 |
1284 | G>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs563395930 RCV001751601 RCV001313782 RCV002357125 |
1284 | G>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390873297 RCV000699923 rs1566767059 RCV002352182 |
1286 | S>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA265905871 rs373980178 RCV002357037 RCV001242788 |
1287 | S>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV002366143 RCV001303816 rs1263628434 CA390873292 |
1287 | S>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002268415 RCV001036767 rs373980178 |
1287 | S>P | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891089097 RCV001063905 |
1289 | T>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000456821 rs1060503650 CA16614186 |
1290 | L>F | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000240929 rs886037710 |
1292 | P>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs772855134 RCV000537430 CA7330974 RCV000575772 |
1293 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs772855134 CA390873256 RCV001044923 RCV001021338 |
1293 | N>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1595364250 RCV001021355 RCV002550867 |
1297 | I>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001342348 rs1891085871 |
1297 | I>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000765194 RCV001021369 rs761578934 CA7330972 RCV000654472 |
1297 | I>T | Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001216915 rs1891084627 |
1299 | Q>P | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001217310 rs774248214 |
1300 | A>G | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878855260 CA10583201 RCV000233539 |
1300 | A>T | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201022 RCV000056332 rs886037650 |
1303 | L>missing | Rhabdomyosarcoma, embryonal, 2 DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595364159 RCV000807565 |
1304 | S>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891081220 RCV001346539 |
1309 | G>R | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390873116 rs1566766844 RCV000691665 |
1315 | L>F | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001065425 rs1566766844 |
1315 | L>I | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390873095 RCV002377185 RCV000542192 rs1555369315 |
1318 | L>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000851463 rs1566766788 RCV000697367 |
1320 | D>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001021542 RCV001862190 CA390873064 rs1595364040 |
1322 | F>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1891076536 RCV001201023 |
1324 | K>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1891075887 RCV001067913 RCV002320340 |
1326 | A>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878855261 CA10583200 RCV000232820 |
1329 | T>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595363945 RCV000851465 RCV001292659 |
1330 | Y>missing | Euthyroid goiter [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691214 RCV000493021 |
1330 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805869 CA390873013 rs1595363934 |
1330 | Y>C | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1891073366 RCV001201024 |
1333 | C>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001862191 rs1595363871 RCV001021638 CA390872986 |
1334 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555369296 RCV000526668 RCV002377187 CA390872982 |
1334 | T>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390872983 RCV002549540 RCV001021640 rs1555369296 |
1334 | T>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10583199 rs878855262 RCV001546198 RCV000227857 RCV003298309 |
1335 | Y>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390872975 RCV001293956 RCV001066011 rs755357184 CA390872974 RCV000851413 |
1335 | Y>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002372764 rs1891071442 RCV001039224 |
1336 | P>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390872971 RCV000811631 rs1595363819 RCV002370181 |
1336 | P>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001340169 rs1891070773 |
1337 | D>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001021662 rs766732310 CA7330960 RCV000556120 |
1338 | A>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000477127 COSM4053287 rs776854466 RCV001021697 CA16614508 |
1342 | R>C | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP |
|
CA7330958 rs767166092 RCV001204617 |
1342 | R>H | Variant assessed as Somatic; MODERATE impact. DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1566766572 CA390872919 RCV000707071 |
1344 | S>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021714 rs1595363710 CA390872920 |
1344 | S>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201025 rs1566766572 COSM959258 |
1344 | S>L | Variant assessed as Somatic; MODERATE impact. DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
rs1891066038 RCV001057179 |
1345 | Y>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390872901 RCV001237697 rs1387749836 |
1346 | M>I | DICER1 syndrome [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
RCV000691934 rs1455097358 RCV003303131 CA390872907 |
1346 | M>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1131691224 RCV000494261 |
1348 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001069084 rs1891064547 RCV001174941 |
1350 | K>missing | DICER1 syndrome Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000569667 rs1555369270 CA390872872 |
1350 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000817891 CA390872334 rs1595353991 |
1352 | S>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs749559682 RCV001021778 CA7330944 RCV000530034 |
1354 | C>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA390872311 RCV001873349 rs1595353936 RCV001021781 |
1354 | C>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021783 rs1595353916 CA390872297 |
1355 | N>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691216 RCV000493217 |
1358 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390872257 RCV000575051 rs1185001854 COSM3936685 RCV001054063 |
1358 | R>C | Variant assessed as Somatic; MODERATE impact. oesophagus Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
COSM175437 RCV000469750 rs780488568 CA7330943 RCV001021807 |
1358 | R>H | large_intestine Hereditary cancer-predisposing syndrome DICER1 syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs780488568 RCV001043866 |
1358 | R>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001222892 rs1890727260 |
1360 | G>E | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000654429 rs1555368619 CA390872217 |
1361 | K>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691195 RCV002322087 RCV001224324 |
1362 | K>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042088 CA390872206 RCV001021833 rs1595353726 |
1362 | K>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000493819 rs1131691195 |
1363 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201617 rs1890725339 |
1363 | K>E | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595353702 RCV001021837 |
1363 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000542831 RCV000569409 RCV003321668 CA390872172 rs1467554488 |
1364 | G>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1196046363 RCV001050689 CA390872180 |
1364 | G>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390872167 RCV003237923 RCV000573313 rs1250570322 RCV000557954 |
1365 | L>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001201080 rs1890723476 RCV001062098 |
1366 | P>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001195291 rs1890722878 |
1368 | R>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000230621 RCV000574570 RCV001201081 RCV003311725 rs752740048 CA7330941 |
1368 | R>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001021875 rs767112987 CA390872124 RCV000654419 |
1368 | R>H | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001069058 CA7330940 rs767112987 |
1368 | R>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001064328 rs752740048 |
1368 | R>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595353531 CA390872117 RCV001021878 |
1369 | M>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1276560984 CA390872092 RCV001347874 |
1371 | V>M | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000494426 RCV000464109 rs34678453 |
1377 | P>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001050913 rs888888762 CA265900692 |
1377 | P>A | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000654410 rs1555368579 CA390871991 |
1379 | N>Y | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390871967 rs1131691205 RCV000493965 RCV000851415 |
1380 | W>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003279023 CA390871946 RCV000701333 rs1566761556 |
1382 | P>S | Inborn genetic diseases DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060503664 RCV000469100 CA16614506 RCV002329083 |
1384 | G>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390871875 rs1555368569 RCV000562141 |
1388 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1890715979 RCV001210699 RCV002327485 |
1388 | N>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071227 RCV002327370 rs1890715699 |
1389 | Q>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390871820 RCV000654461 RCV002331277 rs751216539 |
1392 | S>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs878855263 RCV000234391 RCV000574248 RCV003315335 RCV003320620 |
1393 | N>missing | DICER1-related tumor predisposition Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7330937 RCV001218060 rs763583825 RCV002327511 |
1394 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs886037711 RCV000240865 CA10586419 RCV000493645 |
1397 | W>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7330936 rs762677393 RCV000486377 RCV000575344 RCV000227035 |
1397 | W>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001232401 rs1890712257 RCV002327559 |
1398 | E>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1890711693 RCV001306886 |
1399 | K>E | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000654394 RCV001022042 CA265900626 rs941973586 |
1400 | D>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000464861 rs139536688 CA7330935 RCV001201082 RCV000851469 RCV001022023 |
1400 | D>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1566761421 CA390871709 RCV003318629 RCV000703015 RCV001022044 |
1401 | E>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390871683 CA265900624 rs866519895 RCV001022051 RCV000539126 |
1402 | M>I | DICER1 syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390871692 rs1356366359 RCV001022048 |
1402 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001065407 RCV002327343 rs1890389336 |
1403 | T>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555367927 RCV000654428 |
1405 | D>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555367924 CA390869870 RCV000574723 RCV000800950 |
1405 | D>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595343098 CA390869875 RCV001022068 RCV001049130 |
1405 | D>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000574324 CA390869860 RCV001035543 rs1295287147 |
1406 | C>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000801510 CA390869869 RCV001022069 rs1356179383 |
1406 | C>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16614183 RCV001022082 RCV000462665 rs1060503589 |
1407 | M>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390869845 RCV000561317 RCV000541658 rs1555367920 |
1407 | M>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7330874 RCV002332583 RCV000792205 rs759394379 |
1407 | M>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001348224 rs1890385860 |
1408 | L>P | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7330873 rs776416084 RCV000694680 |
1409 | A>E | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776416084 RCV001022087 RCV001055018 CA390869824 |
1409 | A>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001022086 RCV001350765 CA265898516 rs1004274014 |
1409 | A>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001232387 RCV002327558 CA390869822 rs776416084 |
1409 | A>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA390869797 rs1595342897 RCV001305871 RCV001022100 TCGA novel |
1411 | G>D | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV001308373 rs1001077631 CA265898490 |
1416 | D>N | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595342796 RCV000802224 |
1416 | D>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390869724 RCV001022125 rs1595342821 RCV002298838 |
1416 | D>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1890376286 RCV001209564 |
1416 | D>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1890378285 RCV001237385 |
1417 | Y>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1421729263 RCV001237242 |
1418 | E>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001873354 RCV001022149 CA390869698 rs1421729263 |
1418 | E>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7330866 rs770273518 RCV001022154 RCV000704248 |
1419 | E>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs544960260 RCV000264797 RCV000571432 RCV000205566 RCV000120640 RCV001719882 |
1420 | E>missing | Hereditary cancer-predisposing syndrome Pleuropulmonary blastoma DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs544960260 RCV001039856 |
1420 | E>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002332446 rs1566756845 RCV000694457 |
1421 | D>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001054234 rs1890378553 |
1421 | D>G | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1890376008 RCV001230992 |
1421 | D>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1219156713 CA390869641 RCV000812143 CA390869642 RCV000567188 |
1421 | D>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000493195 rs1131691202 |
1422 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001231123 rs1890377342 |
1422 | E>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746164022 RCV001022177 CA390869629 CA7330865 RCV000555614 |
1422 | E>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
rs1021066468 CA265898461 RCV000804538 RCV001022179 |
1423 | E>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002332678 RCV000813531 rs751284020 |
1425 | E>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000791939 rs1595342531 CA390869573 |
1426 | S>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060503648 CA16614309 RCV000462711 |
1426 | S>N | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002307509 RCV000562615 CA16614307 rs996633792 RCV000459122 |
1428 | M>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000492934 rs1131691222 |
1429 | W>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001312343 rs1890372937 |
1429 | W>C | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7330862 rs771513798 RCV000545818 RCV001022214 |
1430 | R>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001216048 TCGA novel rs1256249012 |
1431 | A>S | Variant assessed as Somatic; MODERATE impact. DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
CA390869490 RCV000566953 rs1555367862 |
1432 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7330861 rs747593690 RCV000560637 RCV002268172 RCV003328598 RCV002330979 |
1432 | P>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001343296 rs747593690 |
1432 | P>R | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000803544 CA390869460 rs1595342315 |
1434 | E>K | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001306526 rs1890370153 |
1434 | E>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390869435 rs1566756652 RCV000698151 |
1435 | E>D | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000563455 RCV000476530 CA7330860 rs777127946 |
1436 | A>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs777127946 CA390869426 RCV001022257 |
1436 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000851471 rs886037712 RCV000240895 RCV000493485 |
1437 | D>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390869422 rs1595342200 RCV001022263 |
1437 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001208413 RCV002327480 RCV002469352 rs1202589148 CA390869397 |
1438 | Y>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001209382 rs878855264 |
1438 | Y>D | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583195 RCV000228106 RCV002257601 rs878855264 |
1438 | Y>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001241247 rs1202589148 |
1438 | Y>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001244226 CA390869374 RCV001022281 rs1394532756 |
1439 | E>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390869385 RCV000822392 rs1595342125 |
1439 | E>Q | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs752291344 CA390869342 RCV000812960 |
1441 | D>H | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1890365639 RCV001066087 |
1442 | F>C | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390869295 rs1367487931 RCV002327546 RCV001230014 |
1444 | E>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs899635943 CA265898359 RCV000795082 RCV002332596 |
1446 | D>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001022332 rs1595341965 |
1450 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001236915 rs1890362954 |
1450 | I>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1890362623 RCV002329278 RCV001318837 |
1451 | R>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001060108 rs1040361162 CA265898357 RCV003153920 RCV002327332 |
1453 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390869070 RCV000687068 rs1566756435 |
1455 | N>D | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000231875 CA10583194 rs878855265 RCV002327148 |
1455 | N>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1187851945 RCV000813940 CA390869023 |
1456 | M>I | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000811074 CA390869033 RCV002332666 rs1595341918 |
1456 | M>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390868977 RCV002291705 RCV000817632 CA390868983 rs1488281692 RCV001022379 |
1458 | M>I | Hereditary cancer-predisposing syndrome Pleuropulmonary blastoma DICER1 syndrome [ClinVar] | Yes |
ClinGen TOPMed ClinVar dbSNP |
|
CA265898350 RCV002291683 RCV001022384 rs1043584252 RCV000654407 |
1459 | G>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1595341817 RCV000814536 CA390868934 |
1460 | S>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555367829 RCV000654437 CA390868903 |
1462 | A>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390868875 RCV001022409 rs1208091143 |
1464 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390868870 rs1208091143 RCV000700566 |
1464 | V>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001059054 rs1064795904 |
1468 | S>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000694811 rs753582860 CA7330855 RCV000561994 |
1468 | S>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001213682 rs753582860 CA7330856 |
1468 | S>F | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000478954 RCV000654427 rs1064795904 |
1469 | L>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000821124 CA390868795 RCV003169020 rs766194200 |
1469 | L>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003313077 CA7330854 RCV001022435 rs766194200 RCV000476492 |
1469 | L>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200890670 CA7330853 RCV000561747 RCV002476199 RCV000544557 |
1469 | L>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001561347 RCV000494649 RCV000240868 RCV000211112 RCV001196784 rs875989784 |
1470 | S>missing | Pineoblastoma Hereditary cancer-predisposing syndrome Rhabdomyosarcoma, embryonal, 2 DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001320878 CA390868750 COSM349005 rs764066711 RCV001022447 |
1471 | P>A | lung Hereditary cancer-predisposing syndrome DICER1 syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000240930 RCV000492956 rs886037713 |
1471 | P>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001325315 rs1060503657 RCV001022448 CA390868741 |
1471 | P>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000468028 RCV003114591 rs1060503657 RCV000561516 CA16614180 |
1471 | P>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000654406 rs764066711 CA7330851 |
1471 | P>S | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs763155602 RCV001296355 CA7330850 |
1472 | F>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001309307 rs1890354468 |
1473 | S>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002329329 RCV001346608 rs1890353894 |
1474 | T>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150883389 CA7330848 RCV001022461 RCV000538120 |
1475 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886037714 RCV000240907 |
1476 | D>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390868590 rs1463264407 RCV000548183 RCV002330980 |
1477 | S>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA265898257 RCV001041252 RCV002327276 rs372496188 |
1478 | A>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002330981 CA390868548 rs1218181729 RCV000558444 |
1479 | Y>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001230140 rs1890350105 |
1480 | E>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201085 rs1890349244 |
1481 | W>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000851418 RCV001201086 rs1595341418 CA390868480 |
1481 | W>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003232184 CA7330843 RCV001056112 RCV001022487 rs778414751 |
1481 | W>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs1890348716 RCV001222944 RCV003163728 |
1482 | K>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003126910 RCV000699832 RCV000765193 RCV001022497 rs1454569806 CA390868420 |
1483 | M>I | Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001327021 CA7330842 rs772462662 RCV003294310 |
1485 | K>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs1131691197 RCV001201087 |
1486 | K>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000657269 rs1131691197 RCV000811512 RCV000493389 |
1487 | S>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390868267 RCV002332647 RCV000806147 rs1595341311 |
1490 | G>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001297182 rs1595341311 RCV002327635 |
1490 | G>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583192 rs878855267 RCV000229691 |
1491 | S>I | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390868222 rs1186397655 RCV001222235 |
1492 | M>I | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000561694 rs370947079 RCV000654444 CA7330841 RCV000765192 |
1492 | M>T | Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA265898227 RCV000536096 rs756830706 RCV000562003 |
1492 | M>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1595341247 CA390868197 RCV002305561 RCV001022541 |
1493 | P>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1890344246 RCV001327524 |
1494 | F>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000574383 RCV000550982 rs753527258 CA7330838 |
1495 | S>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000232473 rs878855268 CA10583191 RCV000566167 |
1497 | D>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA390868133 rs1595341147 RCV001022568 RCV000811618 |
1497 | D>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000689250 CA7330837 RCV001022573 rs779801642 |
1498 | F>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1350503269 RCV001055535 |
1499 | E>K | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002327268 RCV001039757 rs1890341943 |
1500 | D>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570957 RCV000808428 rs1273522896 CA390868063 |
1502 | D>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1890341285 RCV002341600 RCV001302818 |
1503 | Y>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM959254 rs1890340528 RCV001317167 |
1504 | S>N | Variant assessed as Somatic; MODERATE impact. DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
RCV000240947 rs886037715 |
1504 | S>T | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001067740 rs1890339895 COSM1300936 |
1505 | S>C | Variant assessed as Somatic; MODERATE impact. DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
rs1329994791 CA390868017 RCV002339335 RCV001067206 |
1505 | S>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000240870 rs886037716 CA10586414 RCV000493299 TCGA novel |
1506 | W>* | Hereditary cancer-predisposing syndrome DICER1 syndrome Variant assessed as Somatic; HIGH impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar TOPMed dbSNP NCI-TCGA |
|
rs1131691206 RCV000494424 CA390867918 |
1511 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1890337255 RCV001320178 |
1517 | A>P | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002339293 RCV001059263 rs1890337255 |
1517 | A>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000822309 RCV003279114 rs1377062070 |
1518 | V>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201545 RCV002339501 rs1890336775 |
1518 | V>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1890337018 RCV001220049 |
1518 | V>I | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201133 RCV000493125 rs1131691194 |
1519 | E>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000457105 RCV001022691 rs1060503622 CA16614502 |
1519 | E>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1434924094 RCV002339225 CA390867811 RCV001044606 |
1521 | D>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001201134 rs1890334025 |
1524 | V>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7330829 rs777054659 RCV001022759 |
1533 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA390867728 RCV001022758 rs1595340678 |
1533 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886037717 RCV000240909 RCV002287398 RCV000851419 RCV000494288 |
1535 | C>W | Vertebral anomalies and variable endocrine and T-cell dysfunction Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001022773 CA390867700 RCV000804904 rs1486849070 |
1536 | G>D | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16614177 RCV001022784 RCV000471006 rs747901058 |
1539 | T>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000232937 RCV001201135 CA7330825 RCV003128604 RCV000494503 rs747901058 |
1539 | T>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000240950 RCV000493604 rs886037718 CA10586412 |
1541 | K>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390867674 rs1595340496 RCV001318297 RCV001022801 |
1541 | K>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886037719 RCV000240874 |
1542 | Q>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001206467 rs1890328495 |
1543 | S>T | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390867655 RCV000823820 rs1555367720 RCV000569957 |
1544 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000851420 rs875989781 RCV000211108 RCV001201136 |
1545 | S>missing | Pineoblastoma DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001022820 rs1595340380 |
1546 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390867638 RCV000539434 RCV002341469 rs773822569 |
1546 | Y>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA645369611 rs1131691221 RCV000494101 |
1546 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1890326180 RCV001218267 RCV002339572 |
1547 | D>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503619 RCV000476197 RCV002341054 CA16614621 |
1548 | L>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1890325068 RCV001236699 |
1550 | T>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201137 rs1890324311 |
1551 | E>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1890324060 RCV001344715 |
1551 | E>G | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691208 RCV000851421 RCV000494452 CA390867598 |
1552 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691229 RCV000494085 |
1553 | C>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000811080 rs1595340251 CA390867579 |
1554 | I>S | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001214905 rs1890322492 |
1558 | S>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390867552 rs779823153 RCV001022879 |
1558 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000570672 rs1555367694 CA390867546 |
1559 | I>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002336711 CA265898070 RCV003325219 RCV000822095 rs377409989 |
1559 | I>V | Hereditary cancer-predisposing syndrome Pleuropulmonary blastoma DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV001201138 rs1890320100 |
1562 | C>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002339654 RCV001236980 rs1890319805 |
1562 | C>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000233254 CA7330813 RCV001022930 rs765396989 |
1570 | Y>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001317920 rs1890317085 |
1570 | Y>D | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002339600 RCV001224520 rs1890317085 |
1570 | Y>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390867453 rs1555367674 RCV002341471 RCV000553405 |
1573 | S>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001322240 CA16614175 RCV000461106 rs1060503609 |
1575 | G>R | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
rs1890315147 RCV001317924 |
1575 | G>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001302363 CA7330812 rs753976236 |
1576 | E>D | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001062036 CA7330809 rs760830088 RCV002339304 |
1578 | A>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001022969 CA390867388 rs1595339889 |
1579 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000574285 rs369465519 RCV000468344 RCV002461208 CA7330808 RCV001201139 |
1580 | Q>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001041808 RCV001022977 rs1595339827 CA390867362 |
1581 | L>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595339800 RCV000816245 CA390867335 |
1583 | L>F | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_063150 RCV000004725 rs137852976 RCV000240912 CA212568 |
1583 | L>R | Pleuropulmonary blastoma (ppb) Pleuropulmonary blastoma DICER1 syndrome PPB [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000211120 RCV000240939 CA10576127 rs875989779 |
1585 | S>* | Pineoblastoma DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1566754840 RCV000691984 |
1587 | G>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1237854658 CA390867282 RCV001218755 RCV002339575 |
1587 | G>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1595339665 RCV003166273 CA390867262 RCV000808361 |
1589 | K>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001023025 COSM1371847 rs1595339590 CA390867215 RCV002551867 RCV001201140 |
1592 | P>L | large_intestine Hereditary cancer-predisposing syndrome DICER1 syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA16614496 RCV001862246 RCV000472687 CA390867209 rs1060503644 RCV001023028 |
1593 | V>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1595339539 CA390867193 RCV001023037 RCV000817595 |
1594 | I>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1890306057 RCV001043669 |
1594 | I>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322160 rs1890305599 |
1596 | R>M | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1890305348 RCV001205678 |
1597 | T>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM4053285 RCV001873363 RCV001023053 rs757177980 CA7330799 |
1598 | D>N | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs587778230 RCV000532384 RCV000562129 CA7330798 |
1599 | R>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA390867142 RCV001023064 RCV000547257 rs569615549 |
1599 | R>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003316629 RCV001023063 CA7330797 rs569615549 RCV000457830 |
1599 | R>Q | Hereditary cancer-predisposing syndrome Pleuropulmonary blastoma DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA158276 RCV000120641 rs587778230 RCV000809626 RCV001023058 |
1599 | R>W | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000572008 RCV001539074 CA7330796 RCV000233662 rs181018393 |
1601 | K>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000654386 CA7330794 rs148955573 RCV000569711 |
1602 | A>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7330795 RCV000561152 rs145669719 RCV000457948 RCV002268092 |
1602 | A>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000798785 RCV001023087 rs1464874776 CA390867058 RCV003153838 |
1603 | L>P | Hereditary cancer-predisposing syndrome DICER1 syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390867027 RCV000492888 RCV001201142 rs1131691201 |
1604 | C>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001243406 CA390867032 RCV001023100 rs1254200271 |
1604 | C>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390867035 RCV001023099 rs1254200271 |
1604 | C>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs939314926 RCV002551869 RCV001023101 CA390867003 |
1605 | P>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002339552 CA265897896 rs939314926 RCV002465847 RCV001213258 |
1605 | P>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002339194 RCV001039080 CA7330792 rs767907056 |
1606 | T>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs189119295 RCV002339505 RCV001202642 |
1607 | R>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570497 RCV000465086 rs368963384 CA7330790 |
1607 | R>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000456970 CA7330791 rs189119295 RCV000571606 RCV001590943 RCV002268026 |
1607 | R>W | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001023115 RCV000552752 rs1228069910 CA390866932 |
1609 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002550008 RCV001023123 CA390866896 rs1314094025 |
1610 | F>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs763472931 RCV001056240 CA7330788 RCV002339283 |
1611 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs763472931 CA7330789 RCV001023127 RCV000685161 |
1611 | N>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002339595 RCV001223806 rs1595339183 |
1612 | S>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775024028 CA390866829 RCV000575624 RCV001068555 |
1613 | Q>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7330787 RCV000697899 rs775024028 RCV002332468 |
1613 | Q>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002341473 rs769225805 RCV000531188 CA7330786 |
1614 | Q>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001045148 rs1226051395 |
1615 | K>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1890294838 RCV001294671 |
1615 | K>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1890294315 RCV001224032 |
1616 | N>K | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390866775 RCV000545218 rs1257498722 |
1616 | N>S | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000560028 rs1555367614 CA390866750 RCV002341474 |
1617 | L>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000494069 rs377205344 CA390866734 |
1618 | S>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001023153 CA7330785 rs377205344 RCV000230338 |
1618 | S>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001061943 rs1438625170 CA390866724 |
1619 | V>M | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001023157 CA390866697 rs1555367601 RCV000533667 |
1620 | S>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001023158 CA390866694 rs1555367601 |
1620 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1890292272 RCV001210111 RCV002339537 |
1621 | C>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA265897831 rs1007550524 RCV000697397 |
1622 | A>T | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1890291633 RCV001235184 RCV002339647 |
1623 | A>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001351860 rs1890291633 |
1623 | A>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs372967646 RCV000696826 CA7330783 RCV000566395 |
1624 | A>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA390866595 RCV000811928 rs1555367596 RCV000563354 |
1624 | A>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000229012 CA10583189 rs864622653 |
1625 | S>C | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390866574 RCV002257843 rs864622653 RCV000543986 |
1625 | S>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7330782 RCV002465665 RCV000471778 RCV002339192 rs529131866 RCV003153644 |
1625 | S>P | Hereditary cancer-predisposing syndrome DICER1 syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
CA349727 RCV000205591 RCV000565933 RCV002510819 rs864622653 |
1625 | S>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs777737447 CA7330781 RCV001342442 |
1626 | V>A | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555367589 RCV000806299 CA390866565 |
1626 | V>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555367589 RCV000562463 RCV001305842 CA390866568 |
1626 | V>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7330778 RCV000467108 RCV000571126 rs549532374 RCV001201143 |
1630 | R>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000565748 rs368343829 CA7330777 RCV000559079 |
1630 | R>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs368343829 RCV001201144 CA390866465 RCV002339498 |
1630 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000567615 RCV000205231 RCV001081078 RCV001262127 RCV002267944 CA349417 rs145551486 RCV002494538 |
1631 | S>A | Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome Breast neoplasm [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA390866436 rs1595338686 RCV000822666 |
1631 | S>F | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390866459 RCV000701692 rs145551486 |
1631 | S>P | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002336664 RCV000810188 rs1595338686 CA390866439 |
1631 | S>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs545392797 RCV000476667 CA7330776 RCV000568973 |
1632 | S>P | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1060503643 RCV002341055 CA16614287 RCV000466854 |
1633 | V>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000234713 rs149723645 RCV002247682 CA7330774 RCV001023239 |
1634 | L>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000706254 CA390866368 rs1566754081 |
1635 | K>N | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs140875148 RCV001201145 |
1637 | S>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7330772 rs140875148 RCV000228543 RCV000493303 |
1637 | S>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001299280 rs1890283124 |
1638 | E>K | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000494196 rs1131691200 RCV001201146 |
1640 | G>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693614 rs1566754007 CA390866309 |
1641 | C>G | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000571868 rs587778231 CA158279 RCV000232310 RCV000765191 RCV003314562 RCV000120642 |
1641 | C>W | Diffuse midline glioma, H3 K27-altered Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001215196 rs1890280907 |
1644 | I>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002336683 CA265897728 RCV000814074 rs754575679 |
1648 | C>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390866253 rs1274381410 RCV000537552 RCV001023309 |
1649 | M>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000810668 CA390866254 RCV002345836 rs1595338299 |
1649 | M>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7330768 rs146715213 RCV001023306 RCV000465635 |
1649 | M>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
COSM959252 RCV000575142 CA7330767 rs760439905 RCV000547598 |
1650 | F>C | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome endometrium DICER1 syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA390866233 rs1372597986 RCV001023317 RCV000526051 |
1652 | H>Y | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1890277677 RCV001326619 |
1653 | P>I | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001327625 RCV002341681 CA7330766 rs773113605 |
1653 | P>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000240875 rs886037720 RCV000493443 |
1654 | D>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595338147 RCV001209059 |
1654 | D>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001873367 RCV001023329 rs1595338182 CA390866222 |
1654 | D>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390866217 rs1595338147 RCV000804290 |
1654 | D>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390866206 rs1431986661 RCV001023339 |
1656 | D>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001323013 rs1890275305 |
1656 | D>H | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001873369 rs1595338078 CA390866200 RCV001023340 |
1657 | K>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002268188 RCV000570749 rs778780063 RCV000706444 CA7330763 |
1657 | K>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1890273197 RCV001225790 |
1660 | N>Y | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691196 RCV001215942 RCV000493436 |
1663 | I>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555367530 CA390866160 RCV001023368 |
1663 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390866156 RCV002348370 rs1253443798 RCV001045189 |
1663 | I>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555367530 RCV002341475 CA390866161 RCV000548128 |
1663 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000466310 rs988095775 CA16614285 RCV000563940 |
1664 | S>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000654387 CA390866150 rs1555367528 |
1665 | G>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390866134 RCV000654412 rs1555367522 |
1667 | E>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001023411 rs1210643393 CA390866114 RCV001862259 |
1669 | F>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002336747 RCV000851422 rs1595337717 |
1671 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7330758 RCV001023420 rs751819396 CA390866099 RCV000654446 |
1671 | K>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001023425 CA390866091 rs1438773814 RCV000526250 |
1672 | K>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390866095 RCV001023423 rs1595337744 |
1672 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201148 rs1890265960 |
1673 | I>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1890266460 RCV001340017 |
1673 | I>T | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1890266651 RCV001345195 |
1673 | I>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555367519 RCV000541146 CA390866082 |
1674 | N>D | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002339519 rs1890265352 RCV001205269 |
1674 | N>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002339548 RCV001211270 rs1424203615 |
1674 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693348 rs1424203615 CA390866078 |
1674 | N>T | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001201149 rs1890264859 |
1675 | Y>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555367518 CA390866074 RCV000556278 |
1675 | Y>H | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001052523 CA390866065 RCV003160410 rs375465466 |
1676 | R>K | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000540216 RCV001023442 rs1555367513 CA390866063 CA390866062 |
1676 | R>S | DICER1 syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7330757 RCV000571843 RCV000687753 rs375465466 |
1676 | R>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1595337601 RCV000793585 CA390866050 |
1678 | K>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16614163 RCV000566917 RCV003321619 RCV000476765 rs1060503639 |
1680 | K>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs765605529 CA390866034 RCV000796456 |
1680 | K>N | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001023452 rs1060503639 CA390866039 RCV001862260 |
1680 | K>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001063445 CA390866030 RCV000570010 rs1555367505 |
1681 | A>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001023466 CA390866023 rs1595337493 |
1682 | Y>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000240917 CA10586409 rs886037721 RCV001523809 |
1685 | Q>* | Rhabdomyosarcoma, embryonal, 2 DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001297328 rs1890260910 |
1685 | Q>P | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390865994 rs1555367498 RCV000555084 |
1686 | A>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001308128 rs1890260374 |
1687 | F>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1890260072 RCV001232590 |
1688 | T>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000532685 rs1555367495 CA390865981 |
1688 | T>K | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001321495 rs1890258380 |
1692 | Y>C | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200967 RCV003153733 rs1555367487 RCV000570079 RCV001372843 CA390865930 |
1693 | H>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1890257592 RCV001327885 |
1694 | Y>F | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000553062 rs1457257809 CA390865872 RCV001023513 |
1697 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002343180 RCV000211096 rs875989780 CA10576126 RCV001200969 RCV000627364 CA390865441 RCV000851423 RCV000654463 |
1701 | Y>* | Hereditary cancer-predisposing syndrome Pineoblastoma DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10586407 RCV000494634 RCV000240919 rs886037723 |
1702 | Q>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM244035 RCV000231550 RCV001023553 CA10583187 rs878855272 |
1703 | R>C | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome endometrium prostate DICER1 syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1890102272 RCV001301065 |
1704 | L>I | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002341661 rs1890102018 RCV001321945 |
1704 | L>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1890100882 RCV001200973 |
1705 | E>D | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_067091 RCV002348647 rs1890101390 RCV001200970 COSM959251 |
1705 | E>K | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome non-epithelial ovarian tumor; somatic mutation; results in reduced RNase IIIb activity but retention of RNase IIIa activity [NCI-TCGA, ClinVar, UniProt] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP UniProt |
|
COSM1371844 RCV001200971 rs1890101390 |
1705 | E>Q | Variant assessed as Somatic; MODERATE impact. DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
rs1890101135 RCV001200972 |
1705 | E>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1890100579 RCV001043704 |
1706 | F>L | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002349986 RCV000474549 CA16614606 rs1060503635 |
1706 | F>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1890098380 RCV001200974 |
1708 | G>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10586406 RCV003165680 RCV000240960 rs886037724 |
1708 | G>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200975 rs1890099387 |
1709 | D>C | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201027 rs1890098663 VAR_067092 RCV001201028 |
1709 | D>E | DICER1 syndrome non-epithelial ovarian tumor; somatic mutation; results in reduced RNase IIIb activity but retention of RNase IIIa activity [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
VAR_067093 RCV001023581 COSM3744760 RCV000546662 rs1555366979 CA390865393 |
1709 | D>G | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome non-epithelial ovarian tumor; somatic mutation [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs1595331264 RCV001200977 |
1709 | D>H | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM959249 CA390865395 RCV001200976 VAR_067094 rs1595331264 RCV002345932 RCV000851475 |
1709 | D>N | Variant assessed as Somatic; MODERATE impact. large_intestine Hereditary cancer-predisposing syndrome endometrium DICER1 syndrome non-epithelial ovarian tumor; somatic mutation; results in reduced RNase IIIb activity but retention of RNase IIIa activity [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP UniProt |
|
RCV001201026 rs1555366979 |
1709 | D>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595331264 RCV001200978 RCV000735853 VAR_081918 |
1709 | D>Y | DICER1 syndrome Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome GLOW; somatic mutation [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV001201031 rs1595331224 |
1713 | D>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1890097519 RCV001201030 |
1713 | D>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201032 CA390865363 VAR_081919 RCV000851425 RCV000735852 rs1595331224 |
1713 | D>V | DICER1 syndrome Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome GLOW; somatic mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV000815449 RCV001023631 CA390865327 rs1595331111 |
1718 | K>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1488309058 RCV001215641 CA390865329 RCV001023628 |
1718 | K>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390865324 RCV001023632 rs1595331095 |
1719 | H>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001246090 rs1890094427 |
1719 | H>Q | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201033 rs756700070 |
1721 | Y>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595331059 RCV001202697 |
1721 | Y>C | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555366914 CA390865288 RCV002341476 RCV000535105 |
1723 | D>E | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003321754 RCV001202699 RCV002495213 rs749900564 RCV000851426 CA390865284 RCV002336748 |
1724 | P>L | Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs749900564 RCV002341477 CA390865283 RCV000545467 |
1724 | P>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7330710 RCV002560280 RCV001201034 rs751273916 |
1725 | R>Q | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7330711 rs756827508 RCV003151814 RCV002336649 RCV000807640 |
1725 | R>W | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000557161 rs1555366877 CA390865276 |
1726 | Q>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390865267 RCV000701569 rs1262583273 RCV002334353 |
1727 | H>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA390865251 rs1595330675 RCV001023684 |
1730 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390865246 RCV000550226 rs1555366846 |
1731 | V>L | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886037725 RCV000240897 |
1732 | L>P | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs188609628 RCV001338827 |
1735 | L>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805428 rs1595330505 CA390865203 |
1738 | A>S | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1890085554 RCV001044166 |
1738 | A>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201035 rs1890082420 |
1741 | N>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000851477 rs1595330360 RCV001319888 RCV003325981 |
1742 | N>missing | DICER1-related tumor predisposition DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000493704 rs1131691199 RCV001043561 |
1745 | F>missing | DICER1 syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595330274 RCV002550891 CA390865150 RCV001023779 |
1746 | A>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067736 rs1890079630 |
1750 | V>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572213 RCV003325966 CA390865129 rs1184678913 RCV000534697 |
1750 | V>I | DICER1-related tumor predisposition Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs886037726 RCV000240933 |
1751 | K>R | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1165221864 RCV000527854 CA390865100 RCV003315354 RCV001023808 |
1753 | D>E | DICER1-related tumor predisposition Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1460430963 RCV001050884 |
1753 | D>H | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1460430963 CA390865107 RCV001023806 RCV000549329 RCV003325967 |
1753 | D>N | DICER1-related tumor predisposition Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1460430963 RCV000816337 CA390865105 |
1753 | D>Y | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA390865087 rs1595329945 RCV001023819 |
1755 | H>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002348433 rs144259142 RCV001059336 |
1759 | K>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000225800 RCV001356404 RCV000563154 rs144259142 CA158282 RCV000120643 |
1759 | K>R | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1555366735 RCV001858290 CA390865041 RCV000565847 RCV003315356 |
1761 | V>A | DICER1-related tumor predisposition Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003163015 rs1555366740 RCV000654389 CA390865045 |
1761 | V>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001210064 rs1890074487 |
1762 | S>C | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000462050 CA16614477 rs1060503637 RCV002349987 |
1764 | E>A | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886037727 RCV000493189 RCV000240869 |
1767 | H>M | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503656 CA16614475 RCV000461220 |
1767 | H>Q | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595329576 RCV003315361 RCV001023893 CA390864985 RCV001213764 |
1770 | D>H | DICER1-related tumor predisposition Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595329576 CA390864986 RCV001023892 |
1770 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878855274 RCV000657418 RCV000229765 |
1772 | F>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs183879938 RCV002347917 CA7330697 RCV000227591 |
1777 | L>F | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000703036 RCV001201036 CA7330696 RCV001023941 rs780545199 |
1777 | L>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs183879938 CA390864931 RCV000807509 |
1777 | L>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1890068894 RCV001201037 |
1778 | E>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000525934 CA390864919 rs1555366685 |
1779 | K>E | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390864890 rs1555366679 RCV000540658 |
1782 | M>I | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001023956 rs1595329283 CA390864896 |
1782 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1890067345 RCV001201038 |
1783 | Q>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390864819 RCV000692578 rs1566746602 |
1790 | R>K | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000565494 RCV001301381 rs1225830476 CA390864803 RCV003315357 |
1792 | S>C | DICER1-related tumor predisposition Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA16614593 RCV000470444 rs1060503651 |
1792 | S>P | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390864802 rs1595315208 RCV001023997 |
1793 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002509592 RCV003315362 CA7330668 rs766285402 RCV001024012 RCV001049762 |
1794 | E>D | DICER1-related tumor predisposition Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000851479 rs1595315137 RCV002538363 |
1797 | E>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001296825 rs1889816437 |
1797 | E>G | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001212551 rs1889814539 |
1799 | E>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886037728 RCV000240936 |
1799 | E>K | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227464 rs1889813632 |
1801 | D>H | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595315042 RCV001307309 RCV001024045 CA390864732 RCV003315363 |
1802 | I>V | DICER1-related tumor predisposition Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1889812008 RCV001342279 |
1807 | A>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002551886 CA7330664 RCV001024079 rs763241498 |
1808 | M>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000554604 CA390864692 RCV001024080 rs763241498 |
1808 | M>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000492981 rs1131691223 |
1808 | M>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201090 rs1889805083 |
1809 | G>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1889810279 RCV001201091 |
1809 | G>E | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201088 RCV001255229 COSM4169595 RCV000818689 CA390864683 rs1595314951 RCV003325977 |
1809 | G>R | Variant assessed as Somatic; MODERATE impact. Supratentorial primitive neuroectodermal tumor DICER1-related tumor predisposition DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
rs1595314951 RCV001201089 |
1809 | G>W | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1889808547 RCV001201096 |
1810 | D>G | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3370115 RCV001201094 rs775912475 RCV002348648 VAR_067095 |
1810 | D>H | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome non-epithelial ovarian tumor; somatic mutation [NCI-TCGA, ClinVar, UniProt] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP UniProt |
|
RCV001201093 rs775912475 COSM1371843 VAR_067096 CA7330663 |
1810 | D>N | Variant assessed as Somatic; MODERATE impact. large_intestine DICER1 syndrome non-epithelial ovarian tumor; somatic mutation [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001201097 rs1889808547 COSM4169903 |
1810 | D>V | Variant assessed as Somatic; MODERATE impact. DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
RCV001201095 COSM3744763 rs775912475 VAR_067097 |
1810 | D>Y | Variant assessed as Somatic; MODERATE impact. DICER1 syndrome non-epithelial ovarian tumor; somatic mutation [NCI-TCGA, ClinVar, UniProt] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP UniProt |
|
RCV001201092 rs1889809530 |
1810 | D>Y | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595314872 CA390864667 RCV001024098 |
1811 | I>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390864661 rs1595314854 RCV000812395 |
1812 | F>S | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001294960 rs1595314854 |
1812 | F>Y | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002348649 COSM959245 rs1889806272 RCV001201101 |
1813 | E>A | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
RCV001201151 RCV001201150 COSM3738451 rs1889805730 |
1813 | E>D | Variant assessed as Somatic; MODERATE impact. DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar dbSNP NCI-TCGA Cosmic |
|
RCV002348650 VAR_067098 rs1889806272 RCV001201102 |
1813 | E>G | Hereditary cancer-predisposing syndrome DICER1 syndrome non-epithelial ovarian tumor; somatic mutation [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs1889806807 VAR_067099 RCV001201099 |
1813 | E>K | DICER1 syndrome non-epithelial ovarian tumor; somatic mutation [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV001201100 rs1889806807 VAR_067100 |
1813 | E>Q | DICER1 syndrome non-epithelial ovarian tumor; somatic mutation [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV001201103 rs1889806272 |
1813 | E>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000469249 RCV002349985 RCV000851480 rs1060503625 RCV000762934 CA16614268 |
1814 | S>L | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1889802883 RCV001201152 RCV002348651 |
1818 | A>T | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201153 rs1889801913 |
1820 | Y>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1595314725 CA390864609 RCV001024135 |
1820 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16614161 RCV002349984 rs1060503604 RCV000458610 |
1821 | M>L | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000457347 rs1060503604 CA16614591 RCV003315346 RCV001024142 |
1821 | M>V | DICER1-related tumor predisposition Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002305493 RCV000492838 rs886037729 CA390864594 |
1822 | D>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1889800882 RCV001045563 |
1822 | D>N | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000240872 CA10586400 rs886037729 |
1822 | D>V | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1889798515 RCV001068920 |
1823 | S>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802123 CA390864580 rs377685186 |
1824 | G>E | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000563783 RCV003315355 RCV000693668 CA390864581 rs752411788 CA265895034 |
1824 | G>R | DICER1-related tumor predisposition Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
RCV000459341 rs377685186 CA7330660 RCV000564741 |
1824 | G>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA390864565 RCV000023522 rs1595314576 RCV001201154 RCV000023521 |
1826 | S>* | Pleuropulmonary blastoma (ppb) Pleuropulmonary blastoma Euthyroid goiter DICER1 syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555366197 RCV000529758 RCV000851481 |
1827 | L>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001024162 rs1595314543 CA390864560 |
1827 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390864558 rs1595314523 RCV001024164 |
1828 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1889796527 RCV001322236 |
1828 | E>V | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555366196 CA390864546 RCV000654397 |
1829 | T>I | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001042331 rs1889795191 |
1831 | W>R | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000474798 CA16614588 rs1060503583 |
1832 | Q>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA390864526 RCV002343529 RCV000700964 rs1566746163 |
1832 | Q>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001294482 rs1324448543 |
1833 | V>A | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1566746106 RCV000706258 RCV002343568 |
1835 | Y>missing | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000851482 CA7330658 RCV000569795 rs747510783 RCV000460203 |
1835 | Y>C | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747510783 RCV000570256 RCV000687902 CA7330659 |
1835 | Y>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1595314254 RCV000799365 CA390864500 |
1836 | P>T | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002343650 CA7330655 RCV000793109 rs747798126 |
1837 | M>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1595314140 RCV001319178 CA390864497 RCV001024200 |
1837 | M>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001024211 RCV001297159 CA390864484 rs1187244456 |
1838 | M>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000120645 RCV001762254 rs587778233 RCV000566657 CA158288 RCV000476806 |
1839 | R>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM5044682 RCV000572507 CA390864480 rs1447120867 RCV000698396 |
1839 | R>W | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7330653 rs749059266 RCV000227985 RCV001024222 |
1842 | I>V | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1889765764 RCV001325282 |
1848 | N>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001054540 RCV003160433 rs1889765099 |
1849 | V>I | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057422 rs1426678586 COSM4677485 RCV001024266 CA390864315 RCV003238271 |
1851 | R>H | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001304086 rs1889761840 |
1855 | R>G | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390864241 RCV002345814 RCV000806269 rs1595312859 |
1856 | E>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001209878 rs1889760933 |
1857 | L>missing | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1889759738 RCV001349107 |
1863 | E>* | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390864039 RCV000793060 rs1595312775 |
1866 | K>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1595312724 CA390863988 RCV001024315 |
1868 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1459884777 RCV000654379 CA390863829 RCV002343386 RCV003327442 |
1869 | P>L | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs769490774 RCV002256522 RCV000803747 RCV001201159 CA390863714 RCV002348652 |
1874 | Y>* | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC TOPMed gnomAD |
|
rs1889712074 RCV001034751 |
1874 | Y>F | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000809781 CA390863447 RCV000696981 rs1566744851 CA390863446 |
1886 | G>R | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000823022 rs1555365989 CA390863280 COSM5754655 RCV000575385 |
1893 | V>A | Variant assessed as Somatic; MODERATE impact. Hereditary cancer-predisposing syndrome DICER1 syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000561341 rs1555365992 CA390863289 |
1893 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001204146 RCV003163541 rs1889703495 |
1895 | R>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001216356 rs1889702641 |
1898 | R>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762281340 CA7330600 RCV003294304 RCV001326053 COSM3499481 |
1910 | R>* | liver Hereditary cancer-predisposing syndrome DICER1 syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs1555365979 RCV000556473 CA390863031 |
1910 | R>P | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201161 rs1555365979 CA390863032 RCV001862288 RCV001024454 |
1910 | R>Q | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1889700744 RCV002350542 RCV001300789 |
1911 | S>G | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752116341 CA7330599 RCV000564664 RCV000765190 RCV000474828 |
1913 | K>R | Hereditary cancer-predisposing syndrome Euthyroid goiter DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1178537434 CA390862947 RCV001044764 RCV001024472 |
1915 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA390862934 RCV000654413 rs1253131536 |
1916 | Q>* | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000564271 rs1555365972 CA390862906 RCV002527984 |
1917 | P>R | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1889698460 RCV001064130 |
1917 | P>S | DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762301997 CA7330597 RCV001060868 |
1919 | V>I | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001117826 RCV002348564 rs1889697031 |
1920 | P>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000690808 rs775077210 CA390862856 |
1921 | N>D | DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs775077210 CA7330596 RCV001024496 RCV000797977 |
1921 | N>H | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764747360 RCV001811072 RCV000538520 CA7330595 RCV000574482 |
1921 | N>S | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002355004 rs1220636958 CA390862833 RCV001042756 |
1922 | S>N | Hereditary cancer-predisposing syndrome DICER1 syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs912470196 RCV001024501 CA265894530 |
1922 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs777350127 CA390890797 |
6 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566816656 CA390890736 |
12 | A>S | No |
ClinGen Ensembl |
|
|
CA7331756 rs779753946 |
14 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA265927745 rs914097642 |
15 | Q>K | No |
ClinGen Ensembl |
|
|
CA390890576 rs1349780844 |
24 | M>T | No |
ClinGen gnomAD |
|
|
CA7331748 rs766491650 |
29 | G>A | No |
ClinGen ExAC gnomAD |
|
| COSM959284 | 32 | W>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs773456851 CA7331746 |
33 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482582825 CA390890431 |
40 | N>D | No |
ClinGen gnomAD |
|
| COSM1371858 | 45 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs753790391 CA265927698 |
47 | Y>F | No |
ClinGen Ensembl |
|
|
CA7331720 rs769164427 |
55 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA7331719 rs570871959 |
57 | D>H | No |
ClinGen 1000Genomes ExAC |
|
|
rs777362732 CA7331716 |
66 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7331715 rs376657431 |
71 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1234667680 CA390889955 |
72 | F>V | No |
ClinGen Ensembl |
|
|
rs202181696 CA7331714 |
74 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200331768 CA7331713 |
74 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs899822269 CA265927358 |
75 | V>L | No |
ClinGen TOPMed |
|
|
rs1249513421 CA390889863 |
80 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 82 | S>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7331708 rs751813700 |
82 | S>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 88 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 103 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM5576192 | 108 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA390889242 rs1442952372 |
118 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs760049904 CA7331684 |
119 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA390889143 rs1482258814 |
123 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 124 | Y>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390889007 rs747882352 COSM3361293 |
130 | N>K | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 136 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7331675 rs780014291 |
142 | F>L | No |
ClinGen ExAC gnomAD |
|
| COSM4840308 | 147 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1447817443 CA390888599 |
150 | M>V | No |
ClinGen gnomAD |
|
|
CA265926416 rs778605847 |
152 | C>W | No |
ClinGen Ensembl |
|
|
rs769827245 CA7331655 |
153 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7331653 rs777839118 |
160 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1595459165 CA390888524 |
161 | N>T | No |
ClinGen Ensembl |
|
|
rs1274642595 CA390888513 |
163 | Y>H | No |
ClinGen gnomAD |
|
|
rs1274642595 CA390888514 |
163 | Y>N | No |
ClinGen gnomAD |
|
|
rs1054932577 CA265926377 |
173 | V>L | No |
ClinGen Ensembl |
|
|
CA7331647 rs766984054 |
175 | D>G | No |
ClinGen ExAC |
|
|
CA390888409 rs201239474 |
178 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7331644 rs375454363 |
180 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1170562259 CA390888366 |
185 | P>R | No |
ClinGen gnomAD |
|
|
CA7331641 rs775207591 |
187 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 188 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162746497 CA390888327 |
191 | K>R | No |
ClinGen TOPMed |
|
|
CA390888273 rs375689793 |
197 | P>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA390888264 rs1566810803 |
199 | C>R | No |
ClinGen Ensembl |
|
|
rs749484792 CA390888249 |
201 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749484792 CA7331612 |
201 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774514314 CA7331613 |
201 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA390888206 rs1424652177 |
208 | S>F | No |
ClinGen TOPMed |
|
| COSM297364 | 218 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs752322804 CA7331602 |
222 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA7331601 rs764839440 |
225 | K>Q | No |
ClinGen ExAC |
|
|
rs1445983492 CA390888088 |
225 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 227 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs553116282 CA265926081 |
229 | I>F | No |
ClinGen Ensembl |
|
|
rs754799308 CA7331600 |
231 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1595456687 RCV000851484 |
239 | D>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 239 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312732514 CA390887984 |
241 | V>L | No |
ClinGen TOPMed |
|
|
rs1595456594 RCV000851485 |
243 | L>missing | No |
ClinVar dbSNP |
|
|
rs764223602 CA7331595 |
244 | D>G | No |
ClinGen ExAC gnomAD |
|
| COSM959281 | 245 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1595448372 CA390887917 |
250 | P>Q | No |
ClinGen Ensembl |
|
|
rs1167822359 CA390887911 |
251 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 253 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265924740 rs12432511 |
257 | C>* | No |
ClinGen Ensembl |
|
|
rs1595448006 RCV000851430 |
272 | M>missing | No |
ClinVar dbSNP |
|
| COSM1323310 | 275 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA390887535 rs1412252643 |
284 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 294 | D>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428486464 CA390887428 |
300 | K>E | No |
ClinGen gnomAD |
|
|
CA7331559 rs781144010 |
301 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA265923568 rs1016793295 |
302 | I>M | No |
ClinGen Ensembl |
|
|
rs772431718 CA390887368 |
307 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA265923551 rs1047347414 |
308 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 310 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs956714281 CA265923539 |
315 | P>L | No |
ClinGen TOPMed |
|
|
CA265923536 rs776738577 |
319 | D>G | No |
ClinGen Ensembl |
|
|
CA390887290 rs1461043339 |
320 | K>E | No |
ClinGen gnomAD |
|
|
CA7331540 rs769510530 |
321 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA919482718 rs1555374813 |
322 | A>C | No |
ClinGen Ensembl |
|
|
rs1452957166 CA390887266 |
324 | M>V | No |
ClinGen gnomAD |
|
|
rs1260695579 CA390887252 |
325 | M>I | No |
ClinGen gnomAD |
|
| COSM4053291 | 326 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 327 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1371857 | 328 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7331534 rs753974932 |
340 | L>P | No |
ClinGen ExAC gnomAD |
|
| COSM959279 | 341 | H>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3499499 | 342 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 344 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444222157 CA390887103 |
346 | L>* | No |
ClinGen gnomAD |
|
|
rs1195740384 CA390887085 |
348 | T>I | No |
ClinGen gnomAD |
|
|
CA390887063 rs1358609309 |
351 | F>L | No |
ClinGen gnomAD |
|
|
rs878855239 CA390886982 |
363 | F>L | No |
ClinGen gnomAD |
|
|
CA7331529 rs762290893 |
363 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1060503598 CA390886970 |
365 | P>R | No |
ClinGen gnomAD |
|
|
rs774693190 CA7331528 |
366 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA390886948 rs1441684309 |
369 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 373 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001201044 rs1893215622 |
376 | K>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 376 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390886896 rs1390995232 |
377 | V>A | No |
ClinGen gnomAD |
|
|
rs1893220138 RCV001201046 |
377 | V>I | No |
ClinVar dbSNP |
|
|
CA7331525 rs775070199 |
378 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA390886879 rs1372798580 |
380 | L>Q | No |
ClinGen gnomAD |
|
|
CA390886857 rs1219577339 |
383 | I>M | No |
ClinGen gnomAD |
|
|
CA390886801 rs1269365429 |
391 | E>D | No |
ClinGen gnomAD |
|
|
rs868628444 CA265923352 |
399 | E>K | No |
ClinGen Ensembl |
|
|
CA390886718 rs1355146488 |
401 | Y>C | No |
ClinGen gnomAD |
|
|
rs1893205630 COSM959277 RCV001201054 |
404 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar dbSNP |
|
CA265923330 rs935586713 |
407 | D>G | No |
ClinGen Ensembl |
|
|
RCV001201055 rs1893201715 |
411 | S>* | No |
ClinVar dbSNP |
|
| TCGA novel | 413 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344560237 CA390886542 |
414 | D>G | No |
ClinGen TOPMed |
|
|
rs1280386879 CA390886458 |
420 | E>G | No |
ClinGen TOPMed |
|
|
CA265923272 rs954767129 |
424 | I>V | No |
ClinGen Ensembl |
|
| COSM959276 | 426 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7331509 rs776158166 |
426 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs776158166 CA390886358 |
426 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV001201058 rs1893190726 VAR_081917 |
435 | P>L | found in Wilms tumor from a patient with GLOW syndrome; somatic mutation; unknown pathological significance [UniProt] | No |
ClinVar dbSNP UniProt |
|
COSM3499498 CA390886270 rs1222748384 |
435 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs1440194810 CA390886210 |
444 | G>R | No |
ClinGen gnomAD |
|
| COSM3719015 | 445 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1376773899 CA390886197 |
446 | I>V | No |
ClinGen TOPMed |
|
|
rs1595438021 RCV000851437 CA915946414 |
452 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM4767517 CA7331505 rs368535616 |
454 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA gnomAD |
|
rs536815965 CA265917347 |
468 | D>G | No |
ClinGen 1000Genomes |
|
|
rs1374595292 CA390885625 |
472 | A>T | No |
ClinGen gnomAD |
|
|
CA7331483 rs768640312 |
474 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1293949005 CA390885575 |
479 | I>V | No |
ClinGen TOPMed |
|
|
CA390885550 rs1566792113 |
483 | G>S | No |
ClinGen Ensembl |
|
|
CA7331480 rs770934736 |
488 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA265917267 rs1006363970 |
490 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA390885487 rs1184987398 |
493 | Q>E | No |
ClinGen TOPMed |
|
|
rs779431881 CA7331475 |
496 | A>T | No |
ClinGen ExAC gnomAD |
|
| COSM3815608 | 497 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1205403584 CA390885423 |
499 | R>G | No |
ClinGen gnomAD |
|
|
rs4566088 CA265917239 |
499 | R>T | No |
ClinGen Ensembl |
|
|
CA7331455 rs748384175 |
504 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 508 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390885157 rs1375042165 |
512 | E>D | No |
ClinGen gnomAD |
|
|
rs750188806 CA7331453 |
514 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA390885027 rs755649018 |
528 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 529 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM959274 | 539 | L>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1344891057 CA390884910 |
545 | S>F | No |
ClinGen gnomAD |
|
|
CA390884892 rs1261880466 |
548 | Q>L | No |
ClinGen gnomAD |
|
|
rs1283543634 CA390884881 |
550 | K>Q | No |
ClinGen Ensembl |
|
|
CA7331445 rs148532788 |
554 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV001201113 rs1892488234 |
557 | I>missing | No |
ClinVar dbSNP |
|
| COSM699745 | 557 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM959273 | 560 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7331440 rs773357230 |
564 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA390884763 rs1229773803 |
567 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 571 | S>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 571 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390884699 rs1310449725 |
576 | L>F | No |
ClinGen TOPMed |
|
|
CA265916460 rs971390629 |
577 | K>Q | No |
ClinGen Ensembl |
|
| COSM3499495 | 584 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1159702656 CA390884210 |
585 | I>V | No |
ClinGen TOPMed |
|
|
rs1251715969 CA390884186 |
588 | N>T | No |
ClinGen gnomAD |
|
|
CA390884164 rs1406205603 |
591 | S>A | No |
ClinGen TOPMed |
|
| COSM1477878 | 591 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7331403 rs757920193 |
592 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA390884130 rs754852266 |
596 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs960381662 CA265915549 |
604 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA265915525 rs545651708 |
606 | D>G | No |
ClinGen 1000Genomes |
|
|
rs1595406478 CA390884046 |
609 | D>G | No |
ClinGen Ensembl |
|
|
rs1595406385 CA390884032 |
611 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 611 | F>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866407172 CA265915487 |
612 | P>L | No |
ClinGen Ensembl |
|
|
CA390884008 rs1315795741 |
615 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA390884010 rs1315795741 |
615 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs771634025 CA7331386 |
616 | L>W | No |
ClinGen ExAC gnomAD |
|
| COSM6076801 | 620 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA390883965 rs1369399401 |
621 | G>A | No |
ClinGen TOPMed |
|
|
CA390883923 rs1177614630 |
629 | T>A | No |
ClinGen gnomAD |
|
|
rs878855245 CA390883913 |
631 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA390883912 rs878855245 |
631 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7331376 rs763129150 |
633 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1566788243 CA390883895 |
633 | H>Q | No |
ClinGen Ensembl |
|
|
CA7331375 rs752853448 |
634 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM6015613 rs1060503647 |
636 | R>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
CA390883526 rs1235554768 |
642 | P>T | No |
ClinGen gnomAD |
|
| COSM959272 | 646 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1238144220 CA390883448 |
647 | T>N | No |
ClinGen gnomAD |
|
|
rs752761725 CA7331356 |
649 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA390883418 rs1595397085 |
650 | A>T | No |
ClinGen Ensembl |
|
|
rs1315942457 CA390883410 |
651 | P>S | No |
ClinGen gnomAD |
|
|
rs755150419 CA390883395 |
652 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390883401 rs1339343858 |
652 | K>Q | No |
ClinGen TOPMed |
|
|
rs1022513649 CA265913425 |
653 | C>F | No |
ClinGen TOPMed |
|
| TCGA novel | 653 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754081635 CA390883351 |
656 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs773588526 CA7331350 |
660 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1163780413 CA390883279 |
662 | T>A | No |
ClinGen gnomAD |
|
| COSM959271 | 665 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs765014294 CA390883241 |
666 | T>P | No |
ClinGen Ensembl |
|
|
CA7331345 rs748905178 |
672 | N>K | No |
ClinGen ExAC gnomAD |
|
| COSM3499494 | 674 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7331344 rs775336086 |
674 | P>R | No |
ClinGen ExAC |
|
| COSM959269 | 680 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA265912759 rs1003714112 |
685 | S>C | No |
ClinGen TOPMed |
|
| COSM3815607 | 695 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7331321 rs746941761 |
697 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1168346305 CA390883034 |
699 | C>G | No |
ClinGen gnomAD |
|
| TCGA novel | 704 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7331317 rs752868874 |
705 | I>V | No |
ClinGen ExAC gnomAD |
|
| rs191755360 | 706 | G>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265912035 rs911090648 |
714 | P>T | No |
ClinGen TOPMed |
|
|
rs1254898247 CA390882841 |
715 | V>F | No |
ClinGen gnomAD |
|
|
CA390882800 rs1342513692 |
719 | T>S | No |
ClinGen gnomAD |
|
|
rs1376232943 CA390882693 |
728 | L>F | No |
ClinGen TOPMed |
|
|
rs780069801 CA7331295 |
730 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1039684913 CA265911963 |
735 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7331289 rs778284198 |
737 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 745 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288856698 CA390882397 |
759 | D>V | No |
ClinGen TOPMed |
|
|
rs761639070 CA7331260 |
760 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1595382528 RCV000851402 |
761 | Y>missing | No |
ClinVar dbSNP |
|
| COSM4820787 | 763 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1283309784 CA390882345 |
767 | P>S | No |
ClinGen TOPMed |
|
|
rs776530416 CA7331256 |
769 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA265909867 rs867782358 |
772 | V>M | No |
ClinGen Ensembl |
|
|
rs1595382306 CA390882308 RCV000851403 |
773 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM433549 | 776 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM699747 | 780 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs367950170 CA390882208 |
787 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1371854 CA265909832 rs762784970 |
790 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
|
rs748518606 CA7331252 |
791 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA390882074 rs1232785791 |
808 | K>I | No |
ClinGen gnomAD |
|
| TCGA novel | 810 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4053290 | 811 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4053289 | 813 | I>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs541826783 CA265909492 |
815 | H>Q | No |
ClinGen Ensembl |
|
|
CA7331232 rs774540239 |
817 | P>A | No |
ClinGen ExAC gnomAD |
|
|
RCV001201010 rs1891611876 |
821 | R>C | No |
ClinVar dbSNP |
|
|
rs1034912224 CA265909489 |
821 | R>P | No |
ClinGen Ensembl |
|
| COSM3499492 | 828 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1360646143 CA390881869 |
837 | M>I | No |
ClinGen gnomAD |
|
|
rs745444772 CA7331227 |
838 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA390881843 rs1196111891 |
842 | M>V | No |
ClinGen Ensembl |
|
|
CA390881821 rs1182299033 |
845 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA265909396 rs567006441 |
857 | I>V | No |
ClinGen gnomAD |
|
|
rs1566776650 CA390881427 |
868 | K>E | No |
ClinGen Ensembl |
|
|
rs1595380210 RCV000851406 |
869 | P>missing | No |
ClinVar dbSNP |
|
|
rs1406824963 CA390881219 RCV000851451 |
876 | Y>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1165182865 CA390881229 |
876 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV001201063 rs1165182865 |
876 | Y>S | No |
ClinVar dbSNP |
|
|
rs1411395826 CA390881215 |
877 | C>S | No |
ClinGen gnomAD |
|
|
CA390881141 rs1456764595 |
880 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1164049706 CA390881084 |
883 | V>A | No |
ClinGen gnomAD |
|
|
CA390880835 rs1228272276 |
891 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 893 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390879636 rs1302387713 |
900 | I>L | No |
ClinGen gnomAD |
|
|
CA390879621 rs1402233762 |
902 | K>E | No |
ClinGen gnomAD |
|
|
CA390879618 rs1377401799 |
902 | K>R | No |
ClinGen gnomAD |
|
|
CA390879589 rs1178414622 |
907 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs200408568 CA390879587 |
907 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM280383 | 911 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6076803 | 921 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA390879483 rs1357513890 RCV000851408 |
923 | K>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1357513890 CA390879485 |
923 | K>Q | No |
ClinGen TOPMed |
|
|
rs1256068472 CA390879424 |
931 | V>I | No |
ClinGen gnomAD |
|
|
rs1211667485 CA390879401 |
934 | P>L | No |
ClinGen gnomAD |
|
|
rs867444412 CA265909094 |
934 | P>S | No |
ClinGen Ensembl |
|
|
COSM554123 CA7331181 rs757277030 |
935 | R>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1354833117 CA390879306 |
937 | R>C | No |
ClinGen gnomAD |
|
|
CA265907863 rs767138101 |
947 | V>A | No |
ClinGen Ensembl |
|
|
CA7331157 rs745810853 |
953 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1458698147 CA390879116 |
954 | L>F | No |
ClinGen gnomAD |
|
| COSM959264 | 960 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA390878923 rs1227283210 |
977 | N>S | No |
ClinGen TOPMed |
|
|
rs1227283210 CA390878924 |
977 | N>T | No |
ClinGen TOPMed |
|
|
rs1566773279 CA390878919 |
978 | L>I | No |
ClinGen Ensembl |
|
|
rs1595373864 CA390878910 |
979 | D>A | No |
ClinGen Ensembl |
|
|
rs1267003109 CA390878885 |
983 | L>F | No |
ClinGen gnomAD |
|
|
CA7331150 rs766675570 |
983 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7331151 rs766675570 |
983 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1267003109 CA390878886 |
983 | L>V | No |
ClinGen gnomAD |
|
|
rs750932552 CA7331149 |
984 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA265907798 rs112390607 |
993 | T>A | No |
ClinGen Ensembl |
|
| COSM959263 | 993 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7331130 rs756484303 |
1001 | T>I | No |
ClinGen ExAC gnomAD |
|
|
COSM2253693 RCV001201119 rs1891361918 |
1003 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar dbSNP |
|
rs750927764 CA7331129 |
1008 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1022 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7331127 rs762411266 |
1023 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs751053813 CA390878039 RCV000851488 |
1024 | W>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA7331126 rs751053813 |
1024 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs749392411 CA7331091 |
1036 | E>K | No |
ClinGen ExAC gnomAD |
|
| COSM959262 | 1039 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1195908211 CA390876876 |
1040 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 1053 | C>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413756805 CA390876691 |
1055 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1056 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265907073 rs976698124 |
1057 | I>M | No |
ClinGen TOPMed |
|
|
rs1555370020 CA390876640 RCV000498545 |
1060 | R>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM3499488 | 1063 | C>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA390876547 rs1385079711 |
1067 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1067 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6076805 | 1068 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001201130 rs1891296613 |
1070 | L>V | No |
ClinVar dbSNP |
|
|
rs373412959 CA390876426 |
1077 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1488726216 CA390876413 |
1078 | A>S | No |
ClinGen gnomAD |
|
|
rs1196047547 CA390876113 |
1092 | P>R | No |
ClinGen TOPMed |
|
|
RCV000851458 CA390876039 rs1595367992 |
1098 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1098 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390876004 rs1417728231 |
1100 | K>N | No |
ClinGen TOPMed |
|
|
rs1255583940 CA390875832 |
1115 | S>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1115 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1236050119 CA390875814 |
1116 | A>D | No |
ClinGen gnomAD |
|
|
rs1175693367 CA390875652 |
1129 | P>S | No |
ClinGen gnomAD |
|
|
CA7331046 rs748728275 |
1130 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA390875624 rs1566769181 |
1131 | N>K | No |
ClinGen Ensembl |
|
|
rs888196326 CA265906262 |
1136 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 1139 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595367132 CA390875515 RCV000851459 |
1140 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM3499486 rs1212563071 CA390875496 |
1142 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
| COSM3793992 | 1148 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7331040 rs764029077 |
1148 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA390875368 rs1321219152 |
1151 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1154 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7331037 rs766598800 |
1155 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1354557070 CA390875259 |
1160 | S>T | No |
ClinGen TOPMed |
|
|
CA390875247 rs1476564840 |
1161 | P>S | No |
ClinGen gnomAD |
|
|
rs1424957932 CA390875206 |
1164 | L>H | No |
ClinGen gnomAD |
|
|
rs953998753 CA265906144 |
1171 | D>G | No |
ClinGen TOPMed |
|
|
CA265906139 rs1028179766 |
1172 | L>I | No |
ClinGen TOPMed |
|
|
rs769329149 CA7331029 |
1173 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1174 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333407303 CA390875085 |
1174 | A>V | No |
ClinGen Ensembl |
|
|
rs1412362102 CA390875040 |
1178 | L>R | No |
ClinGen TOPMed |
|
|
rs1238231746 CA390874982 |
1183 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1183 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390874907 rs1258777784 |
1189 | Y>N | No |
ClinGen gnomAD |
|
|
rs1316149579 CA390874869 |
1191 | L>F | No |
ClinGen gnomAD |
|
|
CA390874853 rs1383245596 |
1193 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1194 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM959261 | 1195 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1201 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM699749 | 1203 | N>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1891127892 RCV001201013 |
1217 | Y>N | No |
ClinVar dbSNP |
|
|
rs1566767820 CA390874376 RCV000761893 |
1228 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1370940293 CA390874359 |
1229 | P>R | No |
ClinGen gnomAD |
|
| COSM3499484 | 1231 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA390874231 rs1250903139 |
1244 | D>H | No |
ClinGen gnomAD |
|
|
RCV000851461 rs1595365114 |
1246 | N>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 1248 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1249 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1252 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390873655 rs1566767568 |
1252 | S>P | No |
ClinGen Ensembl |
|
|
rs1440770707 CA390873607 |
1254 | G>E | No |
ClinGen gnomAD |
|
|
CA7330995 rs199526737 |
1255 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390873538 rs1392589360 |
1258 | M>I | No |
ClinGen gnomAD |
|
|
rs771990285 CA7330990 |
1263 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771990285 CA265905966 |
1263 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs895397073 CA265905971 |
1263 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA265905936 rs953855540 |
1267 | T>A | No |
ClinGen TOPMed |
|
|
rs1178292163 CA390873394 |
1271 | L>P | No |
ClinGen gnomAD |
|
|
CA7330985 rs142193936 |
1274 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM959260 | 1274 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7330979 rs148696745 |
1280 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs111495226 CA265905878 |
1286 | S>A | No |
ClinGen TOPMed |
|
|
rs1263628434 RCV001201021 |
1287 | S>* | No |
ClinVar dbSNP |
|
|
CA390873267 rs1415495347 |
1292 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 1295 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7330973 rs761578934 |
1297 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1298 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7330971 rs774248214 |
1300 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA390873209 rs1363268262 |
1301 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1314 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390873115 rs779909779 |
1315 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA7330968 rs779909779 |
1315 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs771037069 CA7330967 |
1316 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1318 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273980412 CA390873054 |
1324 | K>* | No |
ClinGen TOPMed |
|
| COSM1749050 | 1340 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3815606 | 1340 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1344 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390872910 rs1323719137 |
1345 | Y>* | No |
ClinGen gnomAD |
|
|
rs1398853735 CA390872905 |
1346 | M>K | No |
ClinGen gnomAD |
|
|
rs1165606053 CA390872897 |
1347 | R>K | No |
ClinGen gnomAD |
|
|
CA390872889 rs1476191950 |
1348 | S>N | No |
ClinGen gnomAD |
|
|
rs1415791238 CA390872886 |
1348 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1350 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1351 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390872116 rs1595353531 |
1369 | M>V | No |
ClinGen Ensembl |
|
|
rs34678453 COSM4677489 |
1377 | P>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
CA390871933 RCV000851468 rs1595353372 |
1383 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1060503664 CA390871918 |
1384 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1386 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390871896 rs1199615826 |
1386 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1425420979 CA390871815 |
1392 | S>R | No |
ClinGen TOPMed |
|
|
rs751216539 CA7330938 |
1392 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs147391538 CA7330875 |
1403 | T>S | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 1405 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356179383 CA390869868 |
1406 | C>R | No |
ClinGen gnomAD |
|
|
CA390869854 rs759394379 |
1407 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA390869741 rs1343899610 |
1415 | E>G | No |
ClinGen gnomAD |
|
|
rs768820364 CA7330869 |
1417 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA390869672 rs1486741089 |
1419 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA390869683 rs775839852 |
1419 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7330867 rs775839852 |
1419 | E>Q | No |
ClinGen ExAC gnomAD |
|
| COSM959257 | 1424 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA390869503 rs1256249012 |
1431 | A>P | No |
ClinGen TOPMed |
|
|
rs1360320875 CA390869429 |
1436 | A>S | No |
ClinGen gnomAD |
|
|
rs752291344 CA7330858 |
1441 | D>Y | No |
ClinGen ExAC gnomAD |
|
| COSM959256 | 1442 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA390869310 rs1455952908 |
1444 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 1447 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390869191 rs1430019327 |
1450 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1452 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390868997 rs1566756381 |
1458 | M>L | No |
ClinGen Ensembl |
|
|
CA390868731 rs763155602 |
1472 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1890354731 RCV001310718 |
1473 | S>missing | No |
ClinVar dbSNP |
|
| COSM1371849 | 1473 | S>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3667680 rs1890354220 RCV001201084 |
1474 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar dbSNP |
|
CA7330847 rs759857552 |
1476 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771378631 CA7330845 |
1478 | A>V | No |
ClinGen ExAC |
|
| COSM959255 | 1482 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1184743227 CA390868412 |
1484 | P>T | No |
ClinGen gnomAD |
|
| COSM1371848 | 1486 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1486 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1131691197 | 1487 | S>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1493 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7330839 rs767679076 |
1495 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1497 | D>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350503269 CA390868109 |
1499 | E>Q | No |
ClinGen gnomAD |
|
| COSM6141743 | 1505 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1510 | C>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1477876 | 1510 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1316786303 CA390867900 |
1513 | D>Y | No |
ClinGen gnomAD |
|
|
rs761666375 CA7330833 |
1515 | S>N | No |
ClinGen ExAC gnomAD |
|
| COSM699752 | 1516 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1170730150 CA390867821 |
1520 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 1521 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364431792 CA390867800 |
1522 | D>E | No |
ClinGen gnomAD |
|
|
CA265898147 rs113234676 |
1522 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1530 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211879881 CA390867709 |
1535 | C>Y | No |
ClinGen gnomAD |
|
|
rs766652674 CA7330828 |
1537 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs761038319 CA7330826 |
1538 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1543 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs541733582 CA7330823 |
1544 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390867621 rs1595340328 |
1549 | H>N | No |
ClinGen Ensembl |
|
| COSM3499483 | 1550 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA390867610 rs1435663556 |
1550 | T>S | No |
ClinGen TOPMed |
|
| COSM6141744 | 1557 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7330819 rs779823153 |
1558 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs755726950 CA7330818 |
1559 | I>M | No |
ClinGen ExAC gnomAD |
|
| COSM3690264 | 1560 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1562 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595340068 RCV000851472 |
1566 | L>missing | No |
ClinVar dbSNP |
|
|
CA390867473 rs765396989 |
1570 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA390867445 rs1236067722 |
1574 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1447972626 CA390867412 |
1577 | R>K | No |
ClinGen gnomAD |
|
|
rs1466171960 CA390867383 |
1579 | A>V | No |
ClinGen gnomAD |
|
|
CA390867279 rs1237854658 |
1587 | G>V | No |
ClinGen TOPMed |
|
|
CA7330804 rs768146959 |
1589 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1446931608 CA390867230 |
1591 | L>F | No |
ClinGen gnomAD |
|
|
rs1387955483 CA390867164 |
1597 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1601 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1603 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390867036 rs1254200271 |
1604 | C>Y | No |
ClinGen gnomAD |
|
| COSM5477045 | 1608 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA390866814 rs769225805 |
1614 | Q>L | No |
ClinGen ExAC gnomAD |
|
| COSM1371846 | 1617 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs777737447 CA390866552 |
1626 | V>G | No |
ClinGen ExAC gnomAD |
|
| COSM4053283 | 1627 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs748079162 CA7330779 |
1628 | S>G | No |
ClinGen ExAC |
|
|
rs1392384194 CA390866509 |
1628 | S>I | No |
ClinGen gnomAD |
|
|
rs1167159136 CA390866480 |
1629 | S>L | No |
ClinGen gnomAD |
|
|
rs140875148 CA7330773 |
1637 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1350329738 CA390866320 |
1639 | Y>C | No |
ClinGen gnomAD |
|
|
rs753190767 CA7330771 |
1640 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA265897759 rs939709874 |
1641 | C>Y | No |
ClinGen Ensembl |
|
|
CA265897758 rs991814398 |
1643 | K>E | No |
ClinGen Ensembl |
|
|
CA390866287 rs1566753944 |
1644 | I>T | No |
ClinGen Ensembl |
|
|
RCV000851473 rs1595338209 |
1652 | H>missing | No |
ClinVar dbSNP |
|
|
CA390866227 rs1324584737 |
1653 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 1654 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431986661 CA390866205 |
1656 | D>G | No |
ClinGen gnomAD |
|
|
CA7330764 rs748106400 |
1656 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs778780063 CA390866198 |
1657 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768640549 CA7330762 |
1658 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1256442548 CA390866147 |
1665 | G>A | No |
ClinGen gnomAD |
|
| COSM1371845 | 1667 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs766570470 CA265897677 |
1668 | N>I | No |
ClinGen Ensembl |
|
|
CA390866117 rs1555367521 |
1669 | F>S | No |
ClinGen Ensembl |
|
|
rs1484737767 CA390866104 |
1671 | K>E | No |
ClinGen TOPMed |
|
|
rs1890266885 RCV001201147 |
1673 | I>missing | No |
ClinVar dbSNP |
|
|
CA7330756 rs758758363 |
1678 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs753111453 CA7330755 |
1678 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1424077753 CA390866043 |
1679 | N>S | No |
ClinGen TOPMed |
|
|
rs1890259261 RCV001200966 |
1689 | H>Y | No |
ClinVar dbSNP |
|
|
rs1359055040 CA390865924 |
1693 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1694 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390865879 rs1160478379 |
1696 | T>S | No |
ClinGen gnomAD |
|
|
rs753251774 CA390865861 |
1697 | I>M | No |
ClinGen ExAC gnomAD |
|
| COSM3499482 | 1703 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1704 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM959250 | 1705 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000851424 rs1555366979 CA390865392 |
1709 | D>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1890097799 RCV001201029 |
1711 | I>M | No |
ClinVar dbSNP |
|
|
CA390865359 rs1433832479 |
1714 | Y>H | No |
ClinGen gnomAD |
|
|
rs1269643869 CA390865347 |
1715 | L>R | No |
ClinGen gnomAD |
|
|
rs1595331059 CA390865306 |
1721 | Y>F | No |
ClinGen Ensembl |
|
|
CA390865286 rs1207697357 |
1724 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs749900564 CA7330713 |
1724 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA390865268 rs1262583273 |
1727 | H>P | No |
ClinGen TOPMed |
|
|
rs762801582 CA7330708 |
1728 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1595330622 CA390865241 |
1731 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1731 | V>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1734 | D>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1736 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595330453 RCV000851427 CA390865196 |
1739 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs905985234 CA265896342 |
1741 | N>K | No |
ClinGen Ensembl |
|
| COSM1300934 | 1742 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA390865173 rs1196791933 |
1743 | T>S | No |
ClinGen gnomAD |
|
| COSM213707 | 1747 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1161123623 CA390865133 |
1749 | A>S | No |
ClinGen TOPMed |
|
|
CA390865135 rs1161123623 |
1749 | A>T | No |
ClinGen TOPMed |
|
|
CA390865078 rs1423918933 |
1756 | K>R | No |
ClinGen gnomAD |
|
|
CA390865003 rs1296798488 |
1767 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1791 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1794 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390864781 rs1465785637 |
1795 | D>E | No |
ClinGen gnomAD |
|
|
rs1889817752 RCV001201041 |
1795 | D>N | No |
ClinVar dbSNP |
|
| COSM699754 | 1796 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA265895074 rs991370383 |
1798 | K>Q | No |
ClinGen Ensembl |
|
|
rs958434315 CA265895062 |
1800 | E>D | No |
ClinGen Ensembl |
|
| COSM4053282 | 1801 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM959247 | 1803 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM959246 | 1810 | D>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1282259682 CA390864641 |
1815 | L>F | No |
ClinGen gnomAD |
|
|
rs1244996889 CA390864632 |
1816 | A>V | No |
ClinGen gnomAD |
|
| COSM959243 | 1821 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA390864602 rs1412965790 |
1821 | M>K | No |
ClinGen TOPMed |
|
|
rs1889795825 RCV001201155 |
1830 | V>A | No |
ClinVar dbSNP |
|
|
RCV001201156 rs1889794873 |
1831 | W>* | No |
ClinVar dbSNP |
|
|
CA390864528 rs1060503583 |
1832 | Q>E | No |
ClinGen gnomAD |
|
|
CA390864524 rs1344743618 |
1832 | Q>H | No |
ClinGen gnomAD |
|
|
CA390864517 rs1324448543 |
1833 | V>G | No |
ClinGen gnomAD |
|
|
rs1595314364 CA390864516 |
1834 | Y>D | No |
ClinGen Ensembl |
|
|
rs1407335437 CA390864507 |
1835 | Y>H | No |
ClinGen gnomAD |
|
|
rs187288681 CA7330657 |
1836 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7330656 rs187288681 |
1836 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754642180 CA7330654 |
1841 | L>P | No |
ClinGen ExAC gnomAD |
|
| COSM4910183 | 1843 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1555366112 CA390864432 |
1844 | K>E | No |
ClinGen Ensembl |
|
|
CA390864420 rs1360182417 |
1844 | K>N | No |
ClinGen gnomAD |
|
|
CA390864384 rs1412433775 |
1847 | A>T | No |
ClinGen TOPMed |
|
|
CA7330633 rs748931250 |
1848 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1850 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390864317 COSM699755 rs1595312961 |
1851 | R>C | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated Ensembl |
| TCGA novel | 1856 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390864156 rs1228225906 |
1860 | M>I | No |
ClinGen TOPMed |
|
| COSM2152526 | 1861 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA390863818 rs1555366012 COSM699756 |
1870 | A>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
|
CA390863769 rs1595310673 |
1872 | R>G | No |
ClinGen Ensembl |
|
|
rs1566744996 CA616115630 |
1874 | Y>* | No |
ClinGen Ensembl |
|
|
CA7330611 rs745601023 COSM4911749 |
1875 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA |
|
CA16614264 rs745601023 |
1875 | D>Y | No |
ClinGen ExAC |
|
|
CA390863670 rs1238684646 |
1876 | G>A | No |
ClinGen gnomAD |
|
|
rs770962059 CA7330608 |
1876 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs746992218 CA7330607 |
1881 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7330605 rs753959216 |
1883 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1299000813 CA390863507 |
1883 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1885 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1889 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM280382 | 1889 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7330603 rs756385724 |
1892 | G>A | No |
ClinGen ExAC gnomAD |
|
|
RCV001201160 VAR_081920 rs1889702908 |
1898 | R>G | found in Wilms tumor from a patient with GLOW syndrome; somatic mutation; unknown pathological significance [UniProt] | No |
ClinVar dbSNP UniProt |
| COSM4402578 | 1902 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3370114 | 1906 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1451403510 CA390862896 |
1918 | Q>L | No |
ClinGen gnomAD |
|
|
CA390862898 rs1451403510 |
1918 | Q>R | No |
ClinGen gnomAD |
No associated diseases with Q9UPY3
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.26.3 | Endoribonucleases producing 5'-phosphomonoesters |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR14950 | DICER-RELATED |
| PANTHER Subfamily | PTHR14950:SF37 | ENDORIBONUCLEASE DICER |
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| RISC complex | A ribonucleoprotein complex that contains members of the Argonaute family of proteins, small interfering RNAs (siRNAs) or microRNAs (miRNAs), and miRNA or siRNA-complementary mRNAs, in addition to a number of accessory factors. The RISC complex is involved in posttranscriptional repression of gene expression through downregulation of translation or induction of mRNA degradation. |
| RISC-loading complex | A trimeric protein complex required for the formation of a mature RNA-induced silencing complex (RISC). In humans the complex is composed of the endonuclease Dicer (DICER1), TRBP (TARBP2) and the Argonaute protein Ago2 (EIF2C2/AGO2). Within the complex, Dicer and TRBP are required to process precursor miRNAs (pre-miRNAs) to mature miRNAs and then load them onto Ago2. Ago2 bound to the mature miRNA constitutes the minimal RISC and may subsequently dissociate from Dicer and TRBP. This complex has endoribonuclease activity. |
12 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| deoxyribonuclease I activity | Catalysis of the endonucleolytic cleavage of DNA to 5'-phosphodinucleotide and 5'-phosphooligonucleotide end products. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| double-stranded RNA binding | Binding to double-stranded RNA. |
| helicase activity | Catalysis of the reaction |
| metal ion binding | Binding to a metal ion. |
| pre-miRNA binding | Binding to a precursor microRNA (pre-miRNA) transcript, a stem-loop-containing precursor of microRNA. |
| protein domain specific binding | Binding to a specific domain of a protein. |
| ribonuclease III activity | Catalysis of the endonucleolytic cleavage of RNA with 5'-phosphomonoesters and 3'-OH termini; makes two staggered cuts in both strands of dsRNA, leaving a 3' overhang of 2 nt. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA endonuclease activity | Catalysis of the hydrolysis of ester linkages within ribonucleic acid by creating internal breaks. |
| siRNA binding | Binding to a small interfering RNA, a 21-23 nucleotide RNA that is processed from double stranded RNA (dsRNA) by an RNAse enzyme. |
19 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic DNA fragmentation | The cleavage of DNA during apoptosis, which usually occurs in two stages |
| global gene silencing by mRNA cleavage | A posttranscriptional gene silencing pathway that involves the cleavage of mRNAs in a non-gene-specific manner. |
| miRNA metabolic process | The chemical reactions and pathways involving miRNA, microRNA, a class of single-stranded RNA molecules of about 21-23 nucleotides in length, which regulates gene expression. |
| miRNA processing | A process leading to the generation of a functional miRNA. Includes the cleavage of stem-loop RNA precursors into microRNAs (miRNAs). miRNAs are a class of small RNAs that primarily silence genes by blocking the translation of mRNA transcripts into protein, or by increasing the degradation of non-protein-coding RNA transcripts. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| negative regulation of Schwann cell proliferation | Any process that decreases the frequency or extent of the multiplication or reproduction of Schwann cells, resulting in the expansion of their population. Schwann cells are a type of glial cell in the peripheral nervous system. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| negative regulation of tumor necrosis factor production | Any process that stops, prevents, or reduces the frequency, rate, or extent of tumor necrosis factor production. |
| nerve development | The process whose specific outcome is the progression of a nerve over time, from its formation to the mature structure. |
| neuron projection morphogenesis | The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites. |
| NIK/NF-kappaB signaling | The process in which a signal is passed on to downstream components within the cell through the NIK-dependent processing and activation of NF-KappaB. Begins with activation of the NF-KappaB-inducing kinase (NIK), which in turn phosphorylates and activates IkappaB kinase alpha (IKKalpha). IKKalpha phosphorylates the NF-Kappa B2 protein (p100) leading to p100 processing and release of an active NF-KappaB (p52). |
| peripheral nervous system myelin formation | The process in which the wraps of cell membrane that constitute myelin are laid down around an axon by Schwann cells in the peripheral nervous system. |
| positive regulation of myelination | Any process that activates or increases the frequency, rate or extent of the formation of a myelin sheath around nerve axons. |
| positive regulation of Schwann cell differentiation | Any process that activates or increases the frequency, rate or extent of Schwann cell differentiation. |
| pre-miRNA processing | A process involved in the conversion of a pre-microRNA transcript into a mature microRNA molecule. |
| RISC complex assembly | The process in which a single-stranded small RNA is incorporated within the RNA-initiated silencing complex (RISC). The assembly includes the maturation of the small RNA, the stabilization of the complex by accessory proteins of the RISC complex, duplex separation and the release of the second strand, forming a base-pairing completent complex that mediates gene silencing by small RNA. |
| RNA phosphodiester bond hydrolysis | The RNA metabolic process in which the phosphodiester bonds between ribonucleotides are cleaved by hydrolysis. |
| siRNA processing | A process leading to the generation of a functional small interfering RNA (siRNA). Includes the cleavage of double-stranded RNA to form small interfering RNA molecules (siRNAs) of 21-23 nucleotides. May also include amplification of the siRNA by RNA-directed RNA polymerase. |
| tRNA catabolic process | The chemical reactions and pathways resulting in the breakdown of tRNA, transfer RNA, a class of relatively small RNA molecules responsible for mediating the insertion of amino acids into the sequence of nascent polypeptide chains during protein synthesis. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6TUI4 | DICER1 | Endoribonuclease Dicer | Bos taurus (Bovine) | SS |
| Q25BN1 | DICER1 | Endoribonuclease Dicer | Gallus gallus (Chicken) | SS |
| Q9BYX4 | IFIH1 | Interferon-induced helicase C domain-containing protein 1 | Homo sapiens (Human) | PR |
| Q96C10 | DHX58 | ATP-dependent RNA helicase DHX58 | Homo sapiens (Human) | PR |
| O95786 | RIGI | Antiviral innate immune response receptor RIG-I | Homo sapiens (Human) | EV |
| Q8R5F7 | Ifih1 | Interferon-induced helicase C domain-containing protein 1 | Mus musculus (Mouse) | PR |
| Q6Q899 | Ddx58 | Antiviral innate immune response receptor RIG-I | Mus musculus (Mouse) | SS |
| Q8R418 | Dicer1 | Endoribonuclease Dicer | Mus musculus (Mouse) | SS |
| Q6ATG6 | Os05g0271300 | Ribonuclease 3-like protein 2 | Oryza sativa subsp japonica (Rice) | PR |
| P34529 | dcr-1 | Endoribonuclease dcr-1 | Caenorhabditis elegans | PR |
| B3DLA6 | dicer1 | Endoribonuclease Dicer | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| Q6TV19 | dicer1 | Endoribonuclease Dicer | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKSPALQPLS | MAGLQLMTPA | SSPMGPFFGL | PWQQEAIHDN | IYTPRKYQVE | LLEAALDHNT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IVCLNTGSGK | TFIAVLLTKE | LSYQIRGDFS | RNGKRTVFLV | NSANQVAQQV | SAVRTHSDLK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VGEYSNLEVN | ASWTKERWNQ | EFTKHQVLIM | TCYVALNVLK | NGYLSLSDIN | LLVFDECHLA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ILDHPYREIM | KLCENCPSCP | RILGLTASIL | NGKCDPEELE | EKIQKLEKIL | KSNAETATDL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VVLDRYTSQP | CEIVVDCGPF | TDRSGLYERL | LMELEEALNF | INDCNISVHS | KERDSTLISK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QILSDCRAVL | VVLGPWCADK | VAGMMVRELQ | KYIKHEQEEL | HRKFLLFTDT | FLRKIHALCE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EHFSPASLDL | KFVTPKVIKL | LEILRKYKPY | ERQQFESVEW | YNNRNQDNYV | SWSDSEDDDE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DEEIEEKEKP | ETNFPSPFTN | ILCGIIFVER | RYTAVVLNRL | IKEAGKQDPE | LAYISSNFIT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GHGIGKNQPR | NKQMEAEFRK | QEEVLRKFRA | HETNLLIATS | IVEEGVDIPK | CNLVVRFDLP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TEYRSYVQSK | GRARAPISNY | IMLADTDKIK | SFEEDLKTYK | AIEKILRNKC | SKSVDTGETD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IDPVMDDDDV | FPPYVLRPDD | GGPRVTINTA | IGHINRYCAR | LPSDPFTHLA | PKCRTRELPD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GTFYSTLYLP | INSPLRASIV | GPPMSCVRLA | ERVVALICCE | KLHKIGELDD | HLMPVGKETV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KYEEELDLHD | EEETSVPGRP | GSTKRRQCYP | KAIPECLRDS | YPRPDQPCYL | YVIGMVLTTP |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LPDELNFRRR | KLYPPEDTTR | CFGILTAKPI | PQIPHFPVYT | RSGEVTISIE | LKKSGFMLSL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QMLELITRLH | QYIFSHILRL | EKPALEFKPT | DADSAYCVLP | LNVVNDSSTL | DIDFKFMEDI |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EKSEARIGIP | STKYTKETPF | VFKLEDYQDA | VIIPRYRNFD | QPHRFYVADV | YTDLTPLSKF |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| PSPEYETFAE | YYKTKYNLDL | TNLNQPLLDV | DHTSSRLNLL | TPRHLNQKGK | ALPLSSAEKR |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| KAKWESLQNK | QILVPELCAI | HPIPASLWRK | AVCLPSILYR | LHCLLTAEEL | RAQTASDAGV |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| GVRSLPADFR | YPNLDFGWKK | SIDSKSFISI | SNSSSAENDN | YCKHSTIVPE | NAAHQGANRT |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| SSLENHDQMS | VNCRTLLSES | PGKLHVEVSA | DLTAINGLSY | NQNLANGSYD | LANRDFCQGN |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| QLNYYKQEIP | VQPTTSYSIQ | NLYSYENQPQ | PSDECTLLSN | KYLDGNANKS | TSDGSPVMAV |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| MPGTTDTIQV | LKGRMDSEQS | PSIGYSSRTL | GPNPGLILQA | LTLSNASDGF | NLERLEMLGD |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| SFLKHAITTY | LFCTYPDAHE | GRLSYMRSKK | VSNCNLYRLG | KKKGLPSRMV | VSIFDPPVNW |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| LPPGYVVNQD | KSNTDKWEKD | EMTKDCMLAN | GKLDEDYEEE | DEEEESLMWR | APKEEADYED |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| DFLEYDQEHI | RFIDNMLMGS | GAFVKKISLS | PFSTTDSAYE | WKMPKKSSLG | SMPFSSDFED |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| FDYSSWDAMC | YLDPSKAVEE | DDFVVGFWNP | SEENCGVDTG | KQSISYDLHT | EQCIADKSIA |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| DCVEALLGCY | LTSCGERAAQ | LFLCSLGLKV | LPVIKRTDRE | KALCPTRENF | NSQQKNLSVS |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| CAAASVASSR | SSVLKDSEYG | CLKIPPRCMF | DHPDADKTLN | HLISGFENFE | KKINYRFKNK |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| AYLLQAFTHA | SYHYNTITDC | YQRLEFLGDA | ILDYLITKHL | YEDPRQHSPG | VLTDLRSALV |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| NNTIFASLAV | KYDYHKYFKA | VSPELFHVID | DFVQFQLEKN | EMQGMDSELR | RSEEDEEKEE |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| DIEVPKAMGD | IFESLAGAIY | MDSGMSLETV | WQVYYPMMRP | LIEKFSANVP | RSPVRELLEM |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| EPETAKFSPA | ERTYDGKVRV | TVEVVGKGKF | KGVGRSYRIA | KSAAARRALR | SLKANQPQVP |
| NS |