ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic by Department of Pathology and Laboratory Medicine, Sinai Health System

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Gene type:
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Total variants: 162
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_007294.4(BRCA1):c.135-1G>T rs80358158 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.212+3A>G rs80358083 0.00001
NM_007294.4(BRCA1):c.4243del (p.Glu1415fs) rs80357981 0.00001
NM_007294.4(BRCA1):c.4357+1G>A rs80358027 0.00001
NM_007294.4(BRCA1):c.4485-1G>A rs80358189 0.00001
NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter) rs80357437 0.00001
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) rs80187739 0.00001
NM_007294.4(BRCA1):c.514del (p.Gln172fs) rs80357872 0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NC_000017.11:g.43045676_43045803del rs2152474705
NM_007294.3(BRCA1):c.135-?_441+?del
NM_007294.3(BRCA1):c.4186-?_4357+?dup172
NM_007294.3(BRCA1):c.4186-?_5193+?del
NM_007294.3(BRCA1):c.4358-?_5277+?del
NM_007294.3(BRCA1):c.5075-?_5193+?del
NM_007294.3(BRCA1):c.548-?_593+?dup
NM_007294.3(BRCA1):c.81-?_134+?del
NM_007294.4(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.4(BRCA1):c.1100del (p.Thr367fs) rs2154476126
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.4(BRCA1):c.1204del (p.Glu402fs) rs80357859
NM_007294.4(BRCA1):c.1297del (p.Ala433fs) rs80357794
NM_007294.4(BRCA1):c.1310_1313del (p.His437fs) rs1555591959
NM_007294.4(BRCA1):c.1325_1326dup (p.Lys443fs) rs80357543
NM_007294.4(BRCA1):c.135-2A>G rs80358065
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer) rs80357969
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs) rs80357770
NM_007294.4(BRCA1):c.1390_1391insG (p.Thr464fs) rs397508867
NM_007294.4(BRCA1):c.1439dup (p.Asn480fs) rs80357505
NM_007294.4(BRCA1):c.1471C>T (p.Gln491Ter) rs62625303
NM_007294.4(BRCA1):c.1499del (p.Asn500fs) rs397508874
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.4(BRCA1):c.1505_1509del (p.Leu502fs) rs876659139
NM_007294.4(BRCA1):c.1508del (p.Lys503fs) rs80357506
NM_007294.4(BRCA1):c.1510del (p.Arg504fs) rs80357908
NM_007294.4(BRCA1):c.1556del (p.Lys519fs) rs80357662
NM_007294.4(BRCA1):c.1603G>T (p.Gly535Ter) rs1555591488
NM_007294.4(BRCA1):c.1674del (p.Gly559fs) rs80357600
NM_007294.4(BRCA1):c.1700dup (p.Asn567fs) rs80357784
NM_007294.4(BRCA1):c.1729G>T (p.Glu577Ter) rs397508903
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr) rs80357093
NM_007294.4(BRCA1):c.1848_1861del (p.Thr617fs) rs2154416271
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs) rs80357526
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs) rs80357522
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter) rs273898674
NM_007294.4(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.4(BRCA1):c.212+1G>T rs80358042
NM_007294.4(BRCA1):c.212G>A (p.Arg71Lys) rs80356913
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2188G>T (p.Glu730Ter) rs80357058
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter) rs80357574
NM_007294.4(BRCA1):c.2241del (p.Asp749fs) rs80357650
NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter) rs41286296
NM_007294.4(BRCA1):c.2269del (p.Val757fs) rs80357583
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007294.4(BRCA1):c.2365del (p.Ser789fs) rs2154381368
NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter) rs62625306
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter) rs80357350
NM_007294.4(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.4(BRCA1):c.2489_2492del (p.Lys830fs) rs886040043
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs) rs80357971
NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs) rs80357636
NM_007294.4(BRCA1):c.269_281del (p.Ile90fs) rs80359879
NM_007294.4(BRCA1):c.2766del (p.Val923fs) rs80357812
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter) rs80357223
NM_007294.4(BRCA1):c.2827A>T (p.Lys943Ter) rs2154357524
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs) rs386134270
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) rs80357115
NM_007294.4(BRCA1):c.2_80+4del rs2154576469
NM_007294.4(BRCA1):c.3005del (p.Asn1002fs) rs80357601
NM_007294.4(BRCA1):c.302-167_441+3del rs2154548547
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs) rs80357856
NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter) rs80356888
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter) rs80357259
NM_007294.4(BRCA1):c.4120_4121del (p.Glu1373_Ser1374insTer) rs80357787
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=) rs80356857
NM_007294.4(BRCA1):c.4186-1G>T rs397509150
NM_007294.4(BRCA1):c.431del (p.Asn144fs) rs397509162
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4335_4338dup (p.Gln1447fs) rs397509164
NM_007294.4(BRCA1):c.4358-1_4484+2del rs2154056714
NM_007294.4(BRCA1):c.4391del (p.Pro1464fs) rs80357916
NM_007294.4(BRCA1):c.442-1_547+2del rs2154527880
NM_007294.4(BRCA1):c.4484+1G>A rs80358063
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.4(BRCA1):c.4485-10_4491del rs2154024242
NM_007294.4(BRCA1):c.4485-2A>T rs80358054
NM_007294.4(BRCA1):c.4487_4675+2del rs1555581778
NM_007294.4(BRCA1):c.4493del (p.Pro1498fs) rs398122687
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs) rs80357813
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs) rs80357542
NM_007294.4(BRCA1):c.4666C>T (p.Gln1556Ter) rs1555581812
NM_007294.4(BRCA1):c.4803del (p.Val1602fs) rs1555580912
NM_007294.4(BRCA1):c.4903del (p.Glu1635fs) rs1555580697
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.4(BRCA1):c.4986+6T>G rs80358086
NM_007294.4(BRCA1):c.4987-1331_5152+2del
NM_007294.4(BRCA1):c.4997dup (p.Tyr1666Ter) rs876658947
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter) rs80357133
NM_007294.4(BRCA1):c.5074+1G>A rs80358053
NM_007294.4(BRCA1):c.5074+2T>C rs80358089
NM_007294.4(BRCA1):c.5075-2A>C rs80358066
NM_007294.4(BRCA1):c.5075-390_5193+2del
NM_007294.4(BRCA1):c.5075_5152del (p.Asp1692_Trp1718delinsGly) rs1555578539
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5106del (p.Lys1702fs) rs80357553
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5141_5144del (p.Val1714fs) rs2153585533
NM_007294.4(BRCA1):c.5153-77_5193+4del rs2153552671
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter) rs80357239
NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter) rs878854957
NM_007294.4(BRCA1):c.516del (p.Gln172fs) rs879254223
NM_007294.4(BRCA1):c.5193+1G>T rs80358004
NM_007294.4(BRCA1):c.5194-119_5277+3del rs2153352800
NM_007294.4(BRCA1):c.5194-1_5277+2del rs2153353204
NM_007294.4(BRCA1):c.5194-2A>G rs80358069
NM_007294.4(BRCA1):c.5194-42_5277+2del rs2153353304
NM_007294.4(BRCA1):c.5194-836_5277+3del rs2153352893
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5209A>T (p.Arg1737Ter) rs80357496
NM_007294.4(BRCA1):c.5239C>T (p.Gln1747Ter) rs80357367
NM_007294.4(BRCA1):c.5277+1G>A rs80358150
NM_007294.4(BRCA1):c.5280del (p.Phe1761fs) rs2153085709
NM_007294.4(BRCA1):c.5296del (p.Ile1766fs) rs1555575732
NM_007294.4(BRCA1):c.5319dup (p.Asn1774fs) rs80357823
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs) rs80357590
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter) rs80357284
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter) rs80356969
NM_007294.4(BRCA1):c.5407-1G>A rs80358029
NM_007294.4(BRCA1):c.5407-73_5467+4del rs2152762741
NM_007294.4(BRCA1):c.5468-191_*2del rs2152476215
NM_007294.4(BRCA1):c.593+1G>A rs1567804153
NM_007294.4(BRCA1):c.65_66insTA (p.Leu22fs) rs1567823254
NM_007294.4(BRCA1):c.66_67delinsTT (p.Leu22_Glu23delinsPheTer) rs2154576881
NM_007294.4(BRCA1):c.672del (p.Ala225fs) rs2154500888
NM_007294.4(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.695dup (p.Asp232fs) rs1555593302
NM_007294.4(BRCA1):c.709G>T (p.Glu237Ter) rs2154496548
NM_007294.4(BRCA1):c.80+2T>G rs80358128
NM_007294.4(BRCA1):c.81-1_134+2del rs2154565293
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.4(BRCA1):c.851del (p.Gln284fs) rs2154489483
NM_007294.4(BRCA1):c.895_896del (p.Val299fs) rs80357670
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter) rs80357292
NM_007294.4(BRCA1):c.984_988del (p.Cys328_Asp330delinsTer) rs786204262
Single allele

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