ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 474
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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.1054G>T (p.Glu352Ter) rs80357472 0.00001
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.1793T>G (p.Leu598Ter) rs80357118 0.00001
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) rs80357064 0.00001
NM_007294.4(BRCA1):c.1960A>T (p.Lys654Ter) rs80357355 0.00001
NM_007294.4(BRCA1):c.213-11T>G rs80358061 0.00001
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter) rs80357233 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs) rs80357717 0.00001
NM_007294.4(BRCA1):c.302-2del rs273899695 0.00001
NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter) rs80357134 0.00001
NM_007294.4(BRCA1):c.4097-2A>G rs80358019 0.00001
NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter) rs80356989 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.4603G>T (p.Glu1535Ter) rs80357366 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) rs80187739 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5136G>A (p.Trp1712Ter) rs80357418 0.00001
NM_007294.4(BRCA1):c.514del (p.Gln172fs) rs80357872 0.00001
NM_007294.4(BRCA1):c.5278-1G>C rs80358099 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.5467+1G>A rs80358145 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter) rs80357629 0.00001
NM_007294.4(BRCA1):c.791_794del (p.Ser264fs) rs80357707 0.00001
NM_007294.4(BRCA1):c.1012A>T (p.Lys338Ter) rs397508826
NM_007294.4(BRCA1):c.1016del (p.Lys339fs) rs80357569
NM_007294.4(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.4(BRCA1):c.1018del (p.Lys339_Val340insTer) rs80357774
NM_007294.4(BRCA1):c.1044_1045del (p.Cys348_Glu349delinsTer) rs1555592601
NM_007294.4(BRCA1):c.1058G>A (p.Trp353Ter) rs80356908
NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter) rs80356935
NM_007294.4(BRCA1):c.105dup (p.Ser36fs) rs1567817957
NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter) rs80357215
NM_007294.4(BRCA1):c.1067del (p.Gln356fs) rs80357796
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer) rs80359880
NM_007294.4(BRCA1):c.1088del (p.Asn363fs) rs80357954
NM_007294.4(BRCA1):c.1102G>T (p.Glu368Ter) rs80357139
NM_007294.4(BRCA1):c.1123_1124delinsA (p.Leu375fs) rs2053989334
NM_007294.4(BRCA1):c.112_113del (p.Lys38fs) rs80357949
NM_007294.4(BRCA1):c.1141A>T (p.Lys381Ter) rs80357385
NM_007294.4(BRCA1):c.1159del (p.Ser387fs)
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe) rs80357498
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.4(BRCA1):c.117_118del (p.Cys39_Asp40delinsTer) rs80357972
NM_007294.4(BRCA1):c.1209del (p.Glu404fs) rs1567800523
NM_007294.4(BRCA1):c.1214C>G (p.Ser405Ter) rs80357481
NM_007294.4(BRCA1):c.1224del (p.Lys408_Val409insTer) rs879255320
NM_007294.4(BRCA1):c.124del (p.Ile42fs) rs80357943
NM_007294.4(BRCA1):c.1252G>T (p.Glu418Ter) rs80357083
NM_007294.4(BRCA1):c.1266T>G (p.Tyr422Ter) rs80357417
NM_007294.4(BRCA1):c.1277_1292del (p.Ser426fs) rs2053962732
NM_007294.4(BRCA1):c.1281_1312delinsATATGT (p.Lys428fs) rs2154459525
NM_007294.4(BRCA1):c.1287dup (p.Asp430fs) rs80357576
NM_007294.4(BRCA1):c.1297del (p.Ala433fs) rs80357794
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.1323_1324del (p.Ile441fs) rs80357570
NM_007294.4(BRCA1):c.1326T>A (p.Cys442Ter) rs397508854
NM_007294.4(BRCA1):c.1333G>T (p.Glu445Ter) rs80356915
NM_007294.4(BRCA1):c.133_134delAA (p.Lys45fs) rs397508857
NM_007294.4(BRCA1):c.134+2T>C rs80358131
NM_007294.4(BRCA1):c.134+3A>C rs80358064
NM_007294.4(BRCA1):c.1348A>T (p.Lys450Ter) rs2053952990
NM_007294.4(BRCA1):c.1354del (p.Ser451_Val452insTer) rs886039946
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer) rs80357969
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs) rs80357714
NM_007294.4(BRCA1):c.1390_1391insG (p.Thr464fs) rs397508867
NM_007294.4(BRCA1):c.1416del (p.Asn473fs) rs1555591774
NM_007294.4(BRCA1):c.1439dup (p.Asn480fs) rs80357505
NM_007294.4(BRCA1):c.143del (p.Met48fs) rs80357637
NM_007294.4(BRCA1):c.1444_1447del (p.Leu481_Ile482insTer) rs80357801
NM_007294.4(BRCA1):c.1471C>T (p.Gln491Ter) rs62625303
NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter) rs80357010
NM_007294.4(BRCA1):c.1492del (p.Leu498fs) rs80357527
NM_007294.4(BRCA1):c.1504_1507del (p.Leu502fs) rs886039955
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.1513A>T (p.Lys505Ter) rs397508877
NM_007294.4(BRCA1):c.1521_1531del (p.Thr509fs) rs1555591596
NM_007294.4(BRCA1):c.1529C>G (p.Ser510Ter) rs80357427
NM_007294.4(BRCA1):c.1556del (p.Lys519fs) rs80357662
NM_007294.4(BRCA1):c.1579_1580del (p.Lys527fs) rs431825387
NM_007294.4(BRCA1):c.1600C>T (p.Gln534Ter) rs142074233
NM_007294.4(BRCA1):c.1601_1602del (p.Gln534fs) rs878854933
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter) rs80356893
NM_007294.4(BRCA1):c.1630C>T (p.Gln544Ter) rs80356952
NM_007294.4(BRCA1):c.1636_1654del (p.Met546fs) rs80359881
NM_007294.4(BRCA1):c.166A>T (p.Lys56Ter) rs2054785999
NM_007294.4(BRCA1):c.1673_1674del (p.Lys558fs) rs80357600
NM_007294.4(BRCA1):c.1674del (p.Gly559fs) rs80357600
NM_007294.4(BRCA1):c.1729G>T (p.Glu577Ter) rs397508903
NM_007294.4(BRCA1):c.1729_1730del (p.Glu577fs) rs80357834
NM_007294.4(BRCA1):c.1765del (p.Ser589fs) rs1555591273
NM_007294.4(BRCA1):c.178_179del (p.Gln60fs) rs397508907
NM_007294.4(BRCA1):c.1793T>A (p.Leu598Ter) rs80357118
NM_007294.4(BRCA1):c.179del (p.Gln60fs) rs80357591
NM_007294.4(BRCA1):c.1812del (p.Ala605fs) rs80357927
NM_007294.4(BRCA1):c.1817del (p.Pro606fs) rs397508910
NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs) rs80357585
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr) rs80357093
NM_007294.4(BRCA1):c.1860del (p.His621fs) rs730881459
NM_007294.4(BRCA1):c.1870G>T (p.Glu624Ter) rs80356950
NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs) rs80357516
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs) rs80357567
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter) rs80357086
NM_007294.4(BRCA1):c.1901_1910del (p.Pro634fs) rs1567797748
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.1929_1930delinsA (p.Ser643fs) rs886039982
NM_007294.4(BRCA1):c.1952del (p.Lys651fs) rs80357885
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs) rs80357526
NM_007294.4(BRCA1):c.1953dup (p.Lys652fs) rs80357753
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs) rs80357522
NM_007294.4(BRCA1):c.1965C>G (p.Tyr655Ter) rs886039987
NM_007294.4(BRCA1):c.1987del (p.Ser663fs)
NM_007294.4(BRCA1):c.1999C>T (p.Gln667Ter) rs80356889
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.4(BRCA1):c.2014A>T (p.Lys672Ter) rs397508929
NM_007294.4(BRCA1):c.2019del (p.Glu673fs) rs80357626
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
NM_007294.4(BRCA1):c.2037delinsCC (p.Lys679fs) rs397508932
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter) rs863224510
NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter) rs273898674
NM_007294.4(BRCA1):c.2061_2064del (p.Thr688fs) rs1597872420
NM_007294.4(BRCA1):c.2070_2071del (p.Arg691fs) rs80357688
NM_007294.4(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.4(BRCA1):c.2101A>T (p.Lys701Ter) rs876660282
NM_007294.4(BRCA1):c.2101_2102del (p.Lys701fs) rs431825389
NM_007294.4(BRCA1):c.2105dup (p.Leu702fs) rs80357880
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.212+1G>A rs80358042
NM_007294.4(BRCA1):c.212+1G>T rs80358042
NM_007294.4(BRCA1):c.2125_2126insA (p.Phe709fs) rs80357871
NM_007294.4(BRCA1):c.212G>A (p.Arg71Lys) rs80356913
NM_007294.4(BRCA1):c.212G>C (p.Arg71Thr) rs80356913
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2131_2132del (p.Lys711fs) rs398122653
NM_007294.4(BRCA1):c.2149_2152del (p.Glu717fs) rs1567796819
NM_007294.4(BRCA1):c.2156_2163dup (p.Val722fs) rs1555590322
NM_007294.4(BRCA1):c.2157_2160del (p.Lys719fs) rs886040005
NM_007294.4(BRCA1):c.2160del (p.Glu720fs) rs1567796774
NM_007294.4(BRCA1):c.2178del (p.Pro727fs) rs2053810963
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs) rs273898681
NM_007294.4(BRCA1):c.2192_2196del (p.Lys731fs) rs397508946
NM_007294.4(BRCA1):c.2199del (p.Lys734fs) rs80357944
NM_007294.4(BRCA1):c.2212_2215del (p.Val738fs) rs397508951
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter) rs80357574
NM_007294.4(BRCA1):c.2215A>T (p.Lys739Ter) rs56329598
NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs) rs80357802
NM_007294.4(BRCA1):c.2217dup (p.Val740fs) rs80357802
NM_007294.4(BRCA1):c.2241dup (p.Lys748fs) rs80357650
NM_007294.4(BRCA1):c.2245del (p.Asp749fs) rs2053796108
NM_007294.4(BRCA1):c.2246_2280del (p.Asp749fs) rs886037998
NM_007294.4(BRCA1):c.2260G>T (p.Gly754Ter) rs2053792392
NM_007294.4(BRCA1):c.2269del (p.Val757fs) rs80357583
NM_007294.4(BRCA1):c.2293G>T (p.Glu765Ter) rs80357449
NM_007294.4(BRCA1):c.2296_2297del (p.Glu765_Ser766insTer) rs80357780
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter) rs80357063
NM_007294.4(BRCA1):c.2311_2317del (p.Pro773fs) rs1060502354
NM_007294.4(BRCA1):c.2329del (p.Tyr777fs) rs80357725
NM_007294.4(BRCA1):c.2331T>G (p.Tyr777Ter) rs80357444
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007294.4(BRCA1):c.2351_2357del (p.Ser784fs) rs80357820
NM_007294.4(BRCA1):c.2359del (p.Glu787fs) rs80357739
NM_007294.4(BRCA1):c.2359dup (p.Glu787fs) rs80357739
NM_007294.4(BRCA1):c.2362del (p.Val788fs) rs876659136
NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter) rs62625306
NM_007294.4(BRCA1):c.2389_2390del (p.Glu797fs) rs80357695
NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs) rs80357706
NM_007294.4(BRCA1):c.2407_2408del (p.Gln804fs) rs786202919
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.2416_2417del (p.Ala806fs) rs1555589706
NM_007294.4(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.2473_2475delinsTAA (p.Asp825Ter) rs2154375606
NM_007294.4(BRCA1):c.2486_2487del (p.Gly828_Phe829insTer) rs80357658
NM_007294.4(BRCA1):c.2487dup (p.Lys830Ter) rs80357658
NM_007294.4(BRCA1):c.2489_2492del (p.Lys830fs) rs886040043
NM_007294.4(BRCA1):c.2498T>A (p.Leu833Ter) rs2053749811
NM_007294.4(BRCA1):c.250G>T (p.Glu84Ter) rs398122661
NM_007294.4(BRCA1):c.2515del (p.His839fs) rs80357607
NM_007294.4(BRCA1):c.2551G>T (p.Glu851Ter) rs398122662
NM_007294.4(BRCA1):c.2560_2561dup (p.Gln855fs) rs80357968
NM_007294.4(BRCA1):c.2561_2565del (p.Ala854fs) rs397508981
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter) rs80357131
NM_007294.4(BRCA1):c.2568T>G (p.Tyr856Ter) rs80356832
NM_007294.4(BRCA1):c.2594del (p.Lys865fs) rs80357756
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter) rs80356925
NM_007294.4(BRCA1):c.2612delinsTT (p.Pro871fs) rs397508986
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter) rs80357251
NM_007294.4(BRCA1):c.2641G>T (p.Glu881Ter) rs397508988
NM_007294.4(BRCA1):c.2654dup (p.Ser886fs) rs398122663
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
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.2686del (p.Ser896fs) rs80357636
NM_007294.4(BRCA1):c.2687_2693del (p.Ser896fs) rs886040062
NM_007294.4(BRCA1):c.2695del (p.Val899fs) rs1567794603
NM_007294.4(BRCA1):c.269_281del (p.Ile90fs) rs80359879
NM_007294.4(BRCA1):c.2719_2722del (p.Glu907fs) rs80357731
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.2728del (p.Gln910fs) rs397509005
NM_007294.4(BRCA1):c.2740_2750del (p.Glu914fs) rs1567794393
NM_007294.4(BRCA1):c.2761C>T (p.Gln921Ter) rs80357377
NM_007294.4(BRCA1):c.2762del (p.Gln921fs) rs80357703
NM_007294.4(BRCA1):c.2764_2767del (p.Thr922fs) rs80357822
NM_007294.4(BRCA1):c.2766del (p.Val923fs) rs80357812
NM_007294.4(BRCA1):c.277_279delinsCC (p.Phe93fs) rs2054677202
NM_007294.4(BRCA1):c.279_280delinsGAA (p.Phe93fs) rs1555596663
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter) rs80357223
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs) rs80357832
NM_007294.4(BRCA1):c.280C>T (p.Gln94Ter) rs886037972
NM_007294.4(BRCA1):c.2815_2827del (p.Val939fs) rs2053690127
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs) rs386134270
NM_007294.4(BRCA1):c.2835dup (p.Ile946fs) rs80357519
NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter) rs80357295
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) rs80357819
NM_007294.4(BRCA1):c.288_292delinsAACCTGT (p.Asp96fs) rs483353091
NM_007294.4(BRCA1):c.2901_2902dup (p.Pro968fs) rs398122670
NM_007294.4(BRCA1):c.2915del (p.Gly972fs) rs80357573
NM_007294.4(BRCA1):c.2921del (p.Leu974fs) rs80357611
NM_007294.4(BRCA1):c.2933dup (p.Tyr978Ter) rs878853292
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) rs80357115
NM_007294.4(BRCA1):c.2940del (p.Pro981fs) rs80357876
NM_007294.4(BRCA1):c.2952del (p.Ile986fs) rs80357627
NM_007294.4(BRCA1):c.2981_2982del (p.Lys993_Cys994insTer) rs397507207
NM_007294.4(BRCA1):c.2984del (p.Lys995fs) rs1597866339
NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs) rs80357829
NM_007294.4(BRCA1):c.2T>G (p.Met1Arg) rs80357111
NM_007294.4(BRCA1):c.3005del (p.Asn1002fs) rs80357601
NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer) rs80357617
NM_007294.4(BRCA1):c.3013del (p.Glu1005fs) rs80357937
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs) rs80357749
NM_007294.4(BRCA1):c.302-1G>A rs80358116
NM_007294.4(BRCA1):c.302-1G>C rs80358116
NM_007294.4(BRCA1):c.302-2A>C rs80358011
NM_007294.4(BRCA1):c.302-2A>G rs80358011
NM_007294.4(BRCA1):c.3029_3030del (p.Pro1010fs) rs80357510
NM_007294.4(BRCA1):c.303T>G (p.Tyr101Ter) rs80356936
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs) rs80357856
NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter) rs80357004
NM_007294.4(BRCA1):c.3103_3104del (p.Val1035fs) rs1555588392
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter) rs80357424
NM_007294.4(BRCA1):c.3181del (p.Glu1060_Ile1061insTer) rs80357702
NM_007294.4(BRCA1):c.3193dup (p.Asp1065fs) rs80357511
NM_007294.4(BRCA1):c.3196G>T (p.Glu1066Ter) rs1555588220
NM_007294.4(BRCA1):c.3205C>T (p.Gln1069Ter) rs2053627043
NM_007294.4(BRCA1):c.321del (p.Phe107fs) rs80357544
NM_007294.4(BRCA1):c.328_329del (p.Lys110fs) rs80357604
NM_007294.4(BRCA1):c.342del (p.Pro115fs) rs886040129
NM_007294.4(BRCA1):c.376C>T (p.Gln126Ter) rs1085307902
NM_007294.4(BRCA1):c.37_40del (p.Asn13fs) rs80357530
NM_007294.4(BRCA1):c.389_391delinsTCT (p.Tyr130_Arg131delinsPheTer) rs1064793054
NM_007294.4(BRCA1):c.38del (p.Asn13fs)
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.4113del (p.Cys1372fs) rs80357861
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.4122_4123del (p.Ser1374fs) rs80357691
NM_007294.4(BRCA1):c.4128_4129del (p.Ser1377fs) rs80357921
NM_007294.4(BRCA1):c.4138dup (p.Glu1380fs)
NM_007294.4(BRCA1):c.4158_4162del (p.Ser1387fs) rs397509142
NM_007294.4(BRCA1):c.415_416del (p.Gln139fs)
NM_007294.4(BRCA1):c.415del (p.Gln139fs) rs1555596315
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.4(BRCA1):c.4165del (p.Ser1389fs) rs1567788282
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4185+2_4185+22delinsA rs273900724
NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=) rs80356857
NM_007294.4(BRCA1):c.4201C>T (p.Gln1401Ter) rs397509151
NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter) rs886040218
NM_007294.4(BRCA1):c.4240dup (p.Leu1414fs) rs397509154
NM_007294.4(BRCA1):c.424_431del (p.Pro142fs) rs1555596294
NM_007294.4(BRCA1):c.4251_4252del (p.Leu1418fs) rs80357977
NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter) rs80357305
NM_007294.4(BRCA1):c.4270C>T (p.Gln1424Ter) rs886040220
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4282del (p.Ser1428fs) rs1555584125
NM_007294.4(BRCA1):c.4289del (p.Pro1430fs)
NM_007294.4(BRCA1):c.4300dup (p.Ser1434fs) rs80357790
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.4339C>T (p.Gln1447Ter) rs80357067
NM_007294.4(BRCA1):c.4357+1G>T rs80358027
NM_007294.4(BRCA1):c.4357+1del rs397509165
NM_007294.4(BRCA1):c.4357+6T>C rs80358143
NM_007294.4(BRCA1):c.4372C>T (p.Gln1458Ter) rs80356932
NM_007294.4(BRCA1):c.4389C>A (p.Tyr1463Ter) rs80356997
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) rs273900730
NM_007294.4(BRCA1):c.4391del (p.Pro1464fs) rs80357916
NM_007294.4(BRCA1):c.4392del (p.Pro1464_Ile1465insTer) rs1064793577
NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs) rs397509170
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter) rs397509171
NM_007294.4(BRCA1):c.441+1G>A rs397509172
NM_007294.4(BRCA1):c.441+2T>A rs397509173
NM_007294.4(BRCA1):c.4414del (p.Leu1472fs) rs1567779686
NM_007294.4(BRCA1):c.442-22_442-13del rs879254224
NM_007294.4(BRCA1):c.4438dup (p.Ser1480fs) rs2052727486
NM_007294.4(BRCA1):c.4480G>T (p.Glu1494Ter) rs80357148
NM_007294.4(BRCA1):c.4482_4483del (p.Arg1495fs) rs80357854
NM_007294.4(BRCA1):c.4484+1G>A rs80358063
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4484G>C (p.Arg1495Thr) rs80357389
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.4(BRCA1):c.4485-2A>C rs80358054
NM_007294.4(BRCA1):c.4493del (p.Pro1498fs) rs398122687
NM_007294.4(BRCA1):c.4515del (p.Asp1505fs) rs2154021596
NM_007294.4(BRCA1):c.4516del (p.Asp1506fs) rs273900736
NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter) rs786202631
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4539C>A (p.Cys1513Ter) rs2052610048
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs) rs80357813
NM_007294.4(BRCA1):c.4611_4612insG (p.Gln1538fs) rs80357915
NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter) rs80356992
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs) rs80357542
NM_007294.4(BRCA1):c.4635del (p.His1545fs) rs2052594151
NM_007294.4(BRCA1):c.4650del (p.Ser1551fs)
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs) rs80357561
NM_007294.4(BRCA1):c.4656del (p.Leu1553fs) rs2052589590
NM_007294.4(BRCA1):c.465del (p.Gln155fs) rs1555594954
NM_007294.4(BRCA1):c.4666C>T (p.Gln1556Ter) rs1555581812
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.4678G>T (p.Gly1560Ter) rs80357349
NM_007294.4(BRCA1):c.4688_4694delinsG (p.Tyr1563_Glu1565delinsTer) rs1555581087
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer) rs80357887
NM_007294.4(BRCA1):c.4712_4716del (p.Leu1570_Phe1571insTer) rs80357718
NM_007294.4(BRCA1):c.4736_4739del (p.Pro1579fs) rs1555581017
NM_007294.4(BRCA1):c.4754_4755del (p.Pro1585fs) rs80357837
NM_007294.4(BRCA1):c.4756G>T (p.Glu1586Ter) rs2052414656
NM_007294.4(BRCA1):c.4794del (p.Ala1599fs)
NM_007294.4(BRCA1):c.4806del (p.Gln1604fs) rs886038036
NM_007294.4(BRCA1):c.4829del (p.Ser1610fs) rs2052400799
NM_007294.4(BRCA1):c.4834C>T (p.Gln1612Ter) rs786202064
NM_007294.4(BRCA1):c.4834_4835del (p.Gln1612fs) rs1555580840
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4905_4906del (p.Lys1636fs) rs397509203
NM_007294.4(BRCA1):c.4936del (p.Val1646fs) rs80357653
NM_007294.4(BRCA1):c.4941del (p.Asn1647fs) rs80357905
NM_007294.4(BRCA1):c.4945del (p.Arg1649fs) rs80357655
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.4(BRCA1):c.4976del (p.Pro1659fs) rs879255295
NM_007294.4(BRCA1):c.4986+6T>G rs80358086
NM_007294.4(BRCA1):c.4986dup (p.Met1663fs) rs1555580601
NM_007294.4(BRCA1):c.4987-1G>A rs730881495
NM_007294.4(BRCA1):c.4999A>T (p.Lys1667Ter) rs80357204
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5035_5039del (p.Leu1679fs) rs80357623
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) rs80357896
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5059del (p.Val1687fs) rs1555579633
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter) rs80357133
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.4(BRCA1):c.5074+1G>A rs80358053
NM_007294.4(BRCA1):c.5074+1G>T rs80358053
NM_007294.4(BRCA1):c.5074+2T>C rs80358089
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter) rs80356896
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter) rs80356974
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.512dup (p.Gln172fs) rs587781487
NM_007294.4(BRCA1):c.5135G>A (p.Trp1712Ter) rs876658672
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer) rs80357997
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.4(BRCA1):c.5152+1G>C rs80358094
NM_007294.4(BRCA1):c.5152+1G>T rs80358094
NM_007294.4(BRCA1):c.5153-2del rs273901746
NM_007294.4(BRCA1):c.5153G>A (p.Trp1718Ter) rs41293461
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter) rs80357239
NM_007294.4(BRCA1):c.5155dup rs80357743
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5173G>T (p.Glu1725Ter) rs80357291
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_007294.4(BRCA1):c.5193+2del rs273901751
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5212G>C (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.4(BRCA1):c.5239C>T (p.Gln1747Ter) rs80357367
NM_007294.4(BRCA1):c.5239del (p.Gln1747fs) rs886040282
NM_007294.4(BRCA1):c.5266C>T (p.Gln1756Ter) rs397509247
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5277+1G>A rs80358150
NM_007294.4(BRCA1):c.5278-1G>A rs80358099
NM_007294.4(BRCA1):c.5278-1G>T rs80358099
NM_007294.4(BRCA1):c.5293G>T (p.Glu1765Ter) rs397509256
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.4(BRCA1):c.5310del (p.Phe1772fs) rs80357581
NM_007294.4(BRCA1):c.5310dup (p.Pro1771fs) rs80357581
NM_007294.4(BRCA1):c.5319dup (p.Asn1774fs) rs80357823
NM_007294.4(BRCA1):c.5320_5321del (p.Asn1774fs) rs80357818
NM_007294.4(BRCA1):c.5332+1G>A rs80358041
NM_007294.4(BRCA1):c.5332+1G>C rs80358041
NM_007294.4(BRCA1):c.5332+1G>T rs80358041
NM_007294.4(BRCA1):c.5333-1G>T rs80358126
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter) rs80357284
NM_007294.4(BRCA1):c.5350del (p.Val1784fs) rs2051091746
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter) rs80356969
NM_007294.4(BRCA1):c.5359_5363delinsAGTGA (p.Cys1787_Gly1788delinsSerAsp) rs786203663
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs) rs879254116
NM_007294.4(BRCA1):c.5387C>G (p.Ser1796Ter) rs80357055
NM_007294.4(BRCA1):c.5390C>A (p.Ser1797Ter) rs879255492
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5417del (p.Pro1806fs) rs80357558
NM_007294.4(BRCA1):c.5419del (p.Ile1807fs) rs80357934
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter) rs397509284
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.4(BRCA1):c.5463_5464insT (p.His1822fs) rs1057518636
NM_007294.4(BRCA1):c.5468-1G>A rs80358048
NM_007294.4(BRCA1):c.547+1G>A rs80358030
NM_007294.4(BRCA1):c.547+2T>A rs80358047
NM_007294.4(BRCA1):c.5470_5477delATTGGGCA rs80357973
NM_007294.4(BRCA1):c.5476C>T (p.Gln1826Ter) rs587782887
NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs) rs273902775
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5511G>C (p.Trp1837Cys) rs80356914
NM_007294.4(BRCA1):c.5518del (p.Asp1840fs) rs1555574414
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.4(BRCA1):c.55C>T (p.Gln19Ter) rs397509299
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.66_67insTC (p.Glu23fs) rs1555600909
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.4(BRCA1):c.685del (p.Ser229fs) rs80357824
NM_007294.4(BRCA1):c.688G>T (p.Glu230Ter) rs1555593310
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.697_698del (p.Val233fs) rs80357747
NM_007294.4(BRCA1):c.697del (p.Asp232_Val233insTer) rs1555593298
NM_007294.4(BRCA1):c.69_79delGTGTCCCATCT (p.Cys24fs) rs80357696
NM_007294.4(BRCA1):c.784C>T (p.Gln262Ter) rs886037979
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.80+2T>G rs80358128
NM_007294.4(BRCA1):c.81-1G>A rs80358018
NM_007294.4(BRCA1):c.81-1G>C rs80358018
NM_007294.4(BRCA1):c.81-2A>G rs397509326
NM_007294.4(BRCA1):c.81-2del rs273902791
NM_007294.4(BRCA1):c.81-5_81-1delinsACCTTGA rs1555599292
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.4(BRCA1):c.832dup (p.Thr278fs) rs886040325
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs) rs80357989
NM_007294.4(BRCA1):c.848T>G (p.Leu283Ter) rs273902792
NM_007294.4(BRCA1):c.876_879del (p.Thr293fs) rs1555592938
NM_007294.4(BRCA1):c.882del (p.Asp295fs) rs80357587
NM_007294.4(BRCA1):c.895_896del (p.Val299fs) rs80357670
NM_007294.4(BRCA1):c.904del (p.Ala302fs) rs273903793
NM_007294.4(BRCA1):c.915dup (p.Asn306Ter) rs2154485546
NM_007294.4(BRCA1):c.922_924delinsT (p.Lys307_Ser308insTer) rs397509335
NM_007294.4(BRCA1):c.922dup (p.Ser308fs)
NM_007294.4(BRCA1):c.923del (p.Ser308fs) rs80357953
NM_007294.4(BRCA1):c.928C>T (p.Gln310Ter) rs397509338
NM_007294.4(BRCA1):c.929del (p.Gln310fs) rs80357844
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter) rs80357292
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer) rs80357772
NM_007294.4(BRCA1):c.983_990dup (p.Arg331fs) rs2054011546

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