ClinVar Miner

List of variants in gene BRCA1 reported by Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 436
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696 0.00008
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442 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.594-2A>C rs80358033 0.00003
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322 0.00002
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.1840A>T (p.Lys614Ter) rs80357282 0.00001
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) rs80357064 0.00001
NM_007294.4(BRCA1):c.1934C>A (p.Ser645Tyr) rs80357129 0.00001
NM_007294.4(BRCA1):c.212+3A>G rs80358083 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.302-2del rs273899695 0.00001
NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter) rs80357134 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.455T>C (p.Leu152Pro) rs80357275 0.00001
NM_007294.4(BRCA1):c.4603G>T (p.Glu1535Ter) rs80357366 0.00001
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys) rs80356988 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.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.5407-25T>A rs758780152 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
NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln) rs273902776 0.00001
NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter) rs80357629 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.101del (p.Pro34fs) rs80357750
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.1072del (p.Leu358fs) rs80357836
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer) rs80359880
NM_007294.4(BRCA1):c.1083dup (p.Glu362fs) rs1135401840
NM_007294.4(BRCA1):c.1086_1087del (p.Asn363fs) rs80357897
NM_007294.4(BRCA1):c.1086_1141del (p.Asn363fs) rs80359875
NM_007294.4(BRCA1):c.1088del (p.Asn363fs) rs80357954
NM_007294.4(BRCA1):c.1093A>T (p.Arg365Ter) rs398122627
NM_007294.4(BRCA1):c.1102G>T (p.Glu368Ter) rs80357139
NM_007294.4(BRCA1):c.1116G>A (p.Trp372Ter) rs80357468
NM_007294.4(BRCA1):c.1121del (p.Thr374fs) rs80357612
NM_007294.4(BRCA1):c.112_113del (p.Lys38fs) rs80357949
NM_007294.4(BRCA1):c.1132_1135del (p.Ser378fs) rs1135401841
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly) rs80357164
NM_007294.4(BRCA1):c.1165del (p.Ser389fs) rs80357985
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.4(BRCA1):c.1217dup (p.Asn406fs) rs397508846
NM_007294.4(BRCA1):c.1222A>T (p.Lys408Ter) rs80357253
NM_007294.4(BRCA1):c.1241dup (p.Asp414fs) rs80357514
NM_007294.4(BRCA1):c.124del (p.Ile42fs) rs80357943
NM_007294.4(BRCA1):c.1252dup (p.Glu418fs) rs886039936
NM_007294.4(BRCA1):c.1255del (p.Glu418_Val419insTer) rs80357535
NM_007294.4(BRCA1):c.1287_1288insC (p.Asp430fs) rs1555592003
NM_007294.4(BRCA1):c.1287dup (p.Asp430fs) rs80357576
NM_007294.4(BRCA1):c.1292dup (p.Leu431fs) rs80357528
NM_007294.4(BRCA1):c.1297del (p.Ala433fs) rs80357794
NM_007294.4(BRCA1):c.130del (p.Cys44fs) rs80357951
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.1321dup (p.Ile441fs) rs1135401843
NM_007294.4(BRCA1):c.1333G>T (p.Glu445Ter) rs80356915
NM_007294.4(BRCA1):c.1356del (p.Glu453fs) rs80357939
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.1384_1393dup (p.Tyr465fs) rs397508864
NM_007294.4(BRCA1):c.1386del (p.Thr464fs) rs80357722
NM_007294.4(BRCA1):c.1387A>G (p.Lys463Glu) rs1135401844
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.1391_1392insG (p.Tyr465fs) rs1135401845
NM_007294.4(BRCA1):c.1393dup (p.Tyr465fs) rs1555591812
NM_007294.4(BRCA1):c.139dup (p.Cys47fs) rs80357734
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs) rs879255476
NM_007294.4(BRCA1):c.1419_1422del (p.Asn473fs) rs886039952
NM_007294.4(BRCA1):c.143del (p.Met48fs) rs80357637
NM_007294.4(BRCA1):c.1440_1441insA (p.Leu481fs) rs80357778
NM_007294.4(BRCA1):c.1450G>T (p.Gly484Ter) rs80357304
NM_007294.4(BRCA1):c.1462dup (p.Thr488fs) rs80357599
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.1483_1498del (p.Glu495fs) rs397508872
NM_007294.4(BRCA1):c.1492del (p.Leu498fs) rs80357527
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.1510del (p.Arg504fs) rs80357908
NM_007294.4(BRCA1):c.1556del (p.Lys519fs) rs80357662
NM_007294.4(BRCA1):c.1561G>C (p.Ala521Pro) rs80357122
NM_007294.4(BRCA1):c.1561_1562delinsTA (p.Ala521Ter) rs273897663
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter) rs80356893
NM_007294.4(BRCA1):c.1612_1616del (p.Gln538fs) rs587776480
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter) rs80356904
NM_007294.4(BRCA1):c.1630C>T (p.Gln544Ter) rs80356952
NM_007294.4(BRCA1):c.1638_1646delinsA (p.Met546fs) rs1135401846
NM_007294.4(BRCA1):c.1649del (p.Asn550fs) rs80357619
NM_007294.4(BRCA1):c.1674del (p.Gly559fs) rs80357600
NM_007294.4(BRCA1):c.1713_1717del (p.Glu572fs) rs80357640
NM_007294.4(BRCA1):c.171del (p.Pro58fs) rs80357660
NM_007294.4(BRCA1):c.1725_1726insG (p.Lys576fs) rs1135401847
NM_007294.4(BRCA1):c.1729G>T (p.Glu577Ter) rs397508903
NM_007294.4(BRCA1):c.1780del (p.Met594fs) rs1135401848
NM_007294.4(BRCA1):c.1789G>T (p.Glu597Ter) rs55650082
NM_007294.4(BRCA1):c.178C>T (p.Gln60Ter) rs80357471
NM_007294.4(BRCA1):c.1793T>A (p.Leu598Ter) rs80357118
NM_007294.4(BRCA1):c.179del (p.Gln60fs) rs80357591
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr) rs80357093
NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs) rs80357516
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter) rs80357086
NM_007294.4(BRCA1):c.1906del (p.Cys636fs) rs397508916
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.1916T>A (p.Leu639Ter) rs80357267
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.1923dup (p.Asp642Ter) rs878854935
NM_007294.4(BRCA1):c.1938_1947del (p.Ser646fs) rs397508920
NM_007294.4(BRCA1):c.1952dup (p.Lys652fs) 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.1960_1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs) rs80357522
NM_007294.4(BRCA1):c.1962_1968del (p.Lys654fs) rs1135401849
NM_007294.4(BRCA1):c.1978del (p.Val660fs) rs886039988
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.4(BRCA1):c.2019del (p.Glu673fs) rs80357626
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
NM_007294.4(BRCA1):c.2038A>T (p.Lys680Ter) rs1135401850
NM_007294.4(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.4(BRCA1):c.2079_2080del (p.Asp693fs) rs80357773
NM_007294.4(BRCA1):c.208_212+22del rs1555597152
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+10T>G rs80358174
NM_007294.4(BRCA1):c.212+1G>A rs80358042
NM_007294.4(BRCA1):c.212+1G>C 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.2126_2127del (p.Phe709fs) rs397508939
NM_007294.4(BRCA1):c.2126_2127insA (p.Phe709fs) rs1135401851
NM_007294.4(BRCA1):c.212G>T (p.Arg71Met) 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.2135_2136del (p.Cys712fs) rs886040001
NM_007294.4(BRCA1):c.2157dup (p.Glu720fs) rs80357715
NM_007294.4(BRCA1):c.2176del (p.Leu726fs) rs80357668
NM_007294.4(BRCA1):c.2185G>T (p.Glu729Ter) rs876659852
NM_007294.4(BRCA1):c.2188dup (p.Glu730fs) rs80357566
NM_007294.4(BRCA1):c.2194G>T (p.Glu732Ter) rs80357426
NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs) rs80357507
NM_007294.4(BRCA1):c.2199del (p.Lys734fs) rs80357944
NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter) rs80357234
NM_007294.4(BRCA1):c.2210_2211del (p.Thr737fs) rs80357654
NM_007294.4(BRCA1):c.2215A>T (p.Lys739Ter) rs56329598
NM_007294.4(BRCA1):c.2241del (p.Asp749fs) rs80357650
NM_007294.4(BRCA1):c.2255T>A (p.Leu752Ter) rs1135401852
NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter) rs41286296
NM_007294.4(BRCA1):c.2269del (p.Val757fs) rs80357583
NM_007294.4(BRCA1):c.2296_2297del (p.Glu765_Ser766insTer) rs80357780
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.2356del (p.Leu786fs) rs397508962
NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter) rs62625306
NM_007294.4(BRCA1):c.2403T>A (p.Cys801Ter) rs80357381
NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs) rs80357706
NM_007294.4(BRCA1):c.2410C>T (p.Gln804Ter) rs80356982
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.2418dup (p.Ala807fs) rs886040036
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter) rs80357350
NM_007294.4(BRCA1):c.2424del (p.Phe808fs) rs397507200
NM_007294.4(BRCA1):c.2429del (p.Asn810fs) rs397508967
NM_007294.4(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.4(BRCA1):c.2437G>T (p.Gly813Ter) rs80357186
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.245TTG[1] (p.Val83del) rs876660423
NM_007294.4(BRCA1):c.2473del (p.Asp825fs) rs886040040
NM_007294.4(BRCA1):c.2476del (p.Thr826fs) rs80357631
NM_007294.4(BRCA1):c.2487del (p.Phe829fs) rs80357658
NM_007294.4(BRCA1):c.2487dup (p.Lys830Ter) rs80357658
NM_007294.4(BRCA1):c.2504dup (p.His835fs) rs1555589513
NM_007294.4(BRCA1):c.2515del (p.His839fs) rs80357607
NM_007294.4(BRCA1):c.2518del (p.Ser840fs) rs397508975
NM_007294.4(BRCA1):c.2524G>T (p.Glu842Ter) rs876658552
NM_007294.4(BRCA1):c.2560_2561dup (p.Gln855fs) rs80357968
NM_007294.4(BRCA1):c.2562_2563insGC (p.Gln855fs) rs878853290
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter) rs80357131
NM_007294.4(BRCA1):c.2591C>G (p.Ser864Ter) rs80357003
NM_007294.4(BRCA1):c.2594del (p.Lys865fs) rs80357756
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter) rs80356925
NM_007294.4(BRCA1):c.2611_2612del (p.Pro871fs) rs80357962
NM_007294.4(BRCA1):c.2612_2613insT (p.Phe872fs) rs80357948
NM_007294.4(BRCA1):c.2617dup (p.Ser873fs) rs80357912
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter) rs80357251
NM_007294.4(BRCA1):c.2637del (p.Glu880fs) rs886040056
NM_007294.4(BRCA1):c.2641G>T (p.Glu881Ter) rs397508988
NM_007294.4(BRCA1):c.2657_2658del (p.Ser886fs) rs397508990
NM_007294.4(BRCA1):c.2658_2659insA (p.Ala887fs) rs80357541
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.2687_2688insA (p.Ser896fs) rs1135401853
NM_007294.4(BRCA1):c.269_281del (p.Ile90fs) rs80359879
NM_007294.4(BRCA1):c.2702_2703del (p.Thr900_Phe901insTer) rs80357899
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.2726_2730del (p.Asn909fs) rs80357712
NM_007294.4(BRCA1):c.2727_2730del (p.Asn909fs) rs80357605
NM_007294.4(BRCA1):c.2751del (p.Lys918fs) rs886040068
NM_007294.4(BRCA1):c.2761C>T (p.Gln921Ter) rs80357377
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs) rs80357832
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.2869C>T (p.Gln957Ter) rs80356973
NM_007294.4(BRCA1):c.2889_2890del (p.Gly964fs) rs80357890
NM_007294.4(BRCA1):c.2903dup (p.Asn969fs) rs1555588756
NM_007294.4(BRCA1):c.2911C>G (p.His971Asp) rs80357478
NM_007294.4(BRCA1):c.2934T>A (p.Tyr978Ter) rs80357115
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) rs80357115
NM_007294.4(BRCA1):c.2973_2979del (p.Lys991fs) rs397509030
NM_007294.4(BRCA1):c.2974_2990del (p.Thr992fs) rs397509031
NM_007294.4(BRCA1):c.2983A>T (p.Lys995Ter) rs879255315
NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs) rs80357829
NM_007294.4(BRCA1):c.2999del (p.Glu1000fs) rs80357991
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.3016_3020del (p.His1006fs) rs1135401855
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs) rs80357749
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.3053_3054insTGAGA (p.Ile1019fs) rs80357547
NM_007294.4(BRCA1):c.3056_3059del (p.Ile1019fs) rs1135401856
NM_007294.4(BRCA1):c.3062del (p.Ser1021fs) rs1135401857
NM_007294.4(BRCA1):c.3064dup (p.Thr1022fs) rs1135401858
NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs) rs80357647
NM_007294.4(BRCA1):c.3108dup (p.Lys1037Ter) rs80357841
NM_007294.4(BRCA1):c.3112G>T (p.Glu1038Ter) rs80357161
NM_007294.4(BRCA1):c.3115del (p.Ala1039fs) rs886040098
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter) rs80357424
NM_007294.4(BRCA1):c.3193dup (p.Asp1065fs) rs80357511
NM_007294.4(BRCA1):c.329_330del (p.Lys110fs) rs80357754
NM_007294.4(BRCA1):c.329dup (p.Glu111fs) rs80357604
NM_007294.4(BRCA1):c.37_40del (p.Asn13fs) rs80357530
NM_007294.4(BRCA1):c.386del (p.Gly129fs) rs1135401836
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.403A>T (p.Lys135Ter) rs879255485
NM_007294.4(BRCA1):c.407del (p.Arg136fs) rs886040200
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.4161_4162del (p.Gln1388fs) rs80357565
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.4(BRCA1):c.4167_4168del (p.Ser1389fs) rs397509144
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.4186C>T (p.Gln1396Ter) rs80357011
NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter) rs80357305
NM_007294.4(BRCA1):c.4262A>T (p.His1421Leu) rs80357079
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4283dup (p.Ser1428fs) rs1135401873
NM_007294.4(BRCA1):c.4289dup (p.Ser1431fs) rs80357556
NM_007294.4(BRCA1):c.4310del (p.Ser1437fs) rs1135401874
NM_007294.4(BRCA1):c.4321dup (p.Asp1441fs) rs80357748
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4358-6T>C rs1135401875
NM_007294.4(BRCA1):c.4394dup (p.Ser1466fs) rs1555582670
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter) rs397509171
NM_007294.4(BRCA1):c.4401del (p.Asn1468fs) rs587781611
NM_007294.4(BRCA1):c.4416_4417delinsG (p.Ser1473fs) rs397509174
NM_007294.4(BRCA1):c.441G>T (p.Leu147Phe) rs748876625
NM_007294.4(BRCA1):c.4453_4474del (p.Thr1485fs) rs886040232
NM_007294.4(BRCA1):c.4456del (p.Ser1486fs) rs397509179
NM_007294.4(BRCA1):c.4484+1G>A rs80358063
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.4(BRCA1):c.4487C>G (p.Ser1496Ter) rs80356953
NM_007294.4(BRCA1):c.4507_4511del (p.Ser1503fs) rs1135401877
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs) rs80357813
NM_007294.4(BRCA1):c.4575_4585del (p.Gln1525fs) rs397509184
NM_007294.4(BRCA1):c.4595_4596insCT (p.Asp1533fs) rs80357699
NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter) rs80357229
NM_007294.4(BRCA1):c.4611_4612insG (p.Gln1538fs) rs80357915
NM_007294.4(BRCA1):c.4656C>G (p.Tyr1552Ter) rs80357151
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.4675+2T>A rs879255293
NM_007294.4(BRCA1):c.4675+3A>T rs80358082
NM_007294.4(BRCA1):c.4676dup (p.Thr1561fs) rs1135401878
NM_007294.4(BRCA1):c.4678G>T (p.Gly1560Ter) rs80357349
NM_007294.4(BRCA1):c.4695dup (p.Ser1566fs) rs397509189
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.4739C>A (p.Ser1580Tyr) rs80357411
NM_007294.4(BRCA1):c.4741G>T (p.Glu1581Ter) rs397509193
NM_007294.4(BRCA1):c.4745del (p.Asp1582fs) rs80357907
NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter) rs80357303
NM_007294.4(BRCA1):c.4806del (p.Gln1604fs) rs886038036
NM_007294.4(BRCA1):c.4834C>T (p.Gln1612Ter) rs786202064
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4873_4885del (p.Tyr1625fs) rs397509201
NM_007294.4(BRCA1):c.4903G>T (p.Glu1635Ter) rs200432771
NM_007294.4(BRCA1):c.4934_4935insAA (p.Val1646fs) rs1135401879
NM_007294.4(BRCA1):c.4936del (p.Val1646fs) rs80357653
NM_007294.4(BRCA1):c.4945del (p.Arg1649fs) rs80357655
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.4(BRCA1):c.4986+2_4986+3del rs1135401880
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4986+4A>C rs80358087
NM_007294.4(BRCA1):c.4986+6T>G rs80358086
NM_007294.4(BRCA1):c.4987-5T>C rs397509214
NM_007294.4(BRCA1):c.5007dup (p.Arg1670fs) rs1555579748
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.5042del (p.Thr1681fs) rs886040265
NM_007294.4(BRCA1):c.5047G>T (p.Glu1683Ter) rs80356879
NM_007294.4(BRCA1):c.5051del (p.Thr1684fs) rs1135401881
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.5066T>G (p.Met1689Arg) rs80357061
NM_007294.4(BRCA1):c.5074+1G>T rs80358053
NM_007294.4(BRCA1):c.5074+2T>C rs80358089
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5075-2A>C rs80358066
NM_007294.4(BRCA1):c.5075A>T (p.Asp1692Val) rs397509222
NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter) rs80356896
NM_007294.4(BRCA1):c.5086G>C (p.Val1696Leu) rs80357125
NM_007294.4(BRCA1):c.5091del (p.Cys1697fs) rs1135401882
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs) rs80357608
NM_007294.4(BRCA1):c.5106del (p.Lys1702fs) rs80357553
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter) rs80356974
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer) rs80357997
NM_007294.4(BRCA1):c.5147_5148insC (p.Trp1718fs) rs1135401883
NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter) rs80356947
NM_007294.4(BRCA1):c.5153-1G>A rs80358137
NM_007294.4(BRCA1):c.5153-2del rs273901746
NM_007294.4(BRCA1):c.516del (p.Gln172fs) rs879254223
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_007294.4(BRCA1):c.5179A>T (p.Lys1727Ter) rs80357347
NM_007294.4(BRCA1):c.5193+1G>T rs80358004
NM_007294.4(BRCA1):c.5193+2del rs273901751
NM_007294.4(BRCA1):c.5194-2A>G rs80358069
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5209_5210insC (p.Arg1737fs) rs1555576968
NM_007294.4(BRCA1):c.520del (p.Gln174fs) rs80357639
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5249dup (p.Arg1751fs) rs879253993
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5277+1G>A rs80358150
NM_007294.4(BRCA1):c.5278-2A>G rs397509253
NM_007294.4(BRCA1):c.5279_5332del (p.Ile1760_Asp1778delinsAsn) rs1555575677
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.4(BRCA1):c.5310dup (p.Pro1771fs) rs80357581
NM_007294.4(BRCA1):c.5318C>T (p.Thr1773Ile) rs80357428
NM_007294.4(BRCA1):c.5319dup (p.Asn1774fs) rs80357823
NM_007294.4(BRCA1):c.5320_5321del (p.Asn1774fs) rs80357818
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys) rs41293463
NM_007294.4(BRCA1):c.5325G>A (p.Met1775Ile) rs1135401885
NM_007294.4(BRCA1):c.5333-36_5333-22del rs1555575231
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs) rs80357590
NM_007294.4(BRCA1):c.5341del (p.Glu1781fs) rs80357694
NM_007294.4(BRCA1):c.5345G>A (p.Trp1782Ter) rs80357219
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter) rs80357284
NM_007294.4(BRCA1):c.5352dup (p.Gln1785fs) rs80357744
NM_007294.4(BRCA1):c.5363G>A (p.Gly1788Asp) rs80357069
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys) rs80356929
NM_007294.4(BRCA1):c.5407-1G>A rs80358029
NM_007294.4(BRCA1):c.5419del (p.Ile1807fs) rs80357934
NM_007294.4(BRCA1):c.5430_5431insAG (p.Gln1811fs) rs1135401887
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.5450_5451del (p.Glu1817fs) rs397509286
NM_007294.4(BRCA1):c.547+1G>T rs80358030
NM_007294.4(BRCA1):c.547+2T>A rs80358047
NM_007294.4(BRCA1):c.5492del (p.Pro1831fs) rs80357582
NM_007294.4(BRCA1):c.5493_5494insTT (p.Val1832fs) rs886040298
NM_007294.4(BRCA1):c.5509_5510del (p.Trp1837fs) rs1135401888
NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter) rs80357307
NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter) rs80356914
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.4(BRCA1):c.5534del (p.Tyr1845fs) rs1060505048
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.4(BRCA1):c.62T>G (p.Ile21Ser) rs1135401834
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.671-18_671-16del rs398122354
NM_007294.4(BRCA1):c.671-1G>T rs80358020
NM_007294.4(BRCA1):c.671-2A>T rs80358108
NM_007294.4(BRCA1):c.676del (p.Cys226fs) rs80357941
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.69_79delGTGTCCCATCT (p.Cys24fs) rs80357696
NM_007294.4(BRCA1):c.700_704del (p.Thr234fs) rs1135401837
NM_007294.4(BRCA1):c.718C>T (p.Gln240Ter) rs886040313
NM_007294.4(BRCA1):c.737del (p.Asp245_Leu246insTer) rs397509312
NM_007294.4(BRCA1):c.783T>G (p.Tyr261Ter) rs80357321
NM_007294.4(BRCA1):c.794_795del (p.Ser265fs) rs80357955
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.80+1G>A rs80358010
NM_007294.4(BRCA1):c.80+2dup rs397509324
NM_007294.4(BRCA1):c.800C>A (p.Ser267Ter) rs80357392
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.880_884del (p.Lys294fs) rs1135401838
NM_007294.4(BRCA1):c.886A>T (p.Arg296Ter) rs748675395
NM_007294.4(BRCA1):c.886del (p.Arg296fs) rs869320786
NM_007294.4(BRCA1):c.895_896del (p.Val299fs) rs80357670
NM_007294.4(BRCA1):c.924del (p.Ser308fs) rs397509336
NM_007294.4(BRCA1):c.929del (p.Gln310fs) rs80357844
NM_007294.4(BRCA1):c.930del (p.Gln310fs) rs80357689
NM_007294.4(BRCA1):c.933del (p.Gly312fs) rs1135401839
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter) rs80357292
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer) rs80357772
U14680.1(BRCA1):n.561_563delCAG rs397509175

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