ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 517
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HGVS dbSNP
NC_000017.10:g.(?_41196312)_(41197819_?)del
NC_000017.10:g.(?_41196312)_(41209152_?)del
NC_000017.10:g.(?_41196312)_(41251897_?)del
NC_000017.10:g.(?_41197675)_(41197839_?)del
NC_000017.10:g.(?_41197675)_(41199740_?)del
NC_000017.10:g.(?_41197675)_(41203154_?)del
NC_000017.10:g.(?_41197689)_(41199726_?)del
NC_000017.10:g.(?_41197689)_(41258556_?)del
NC_000017.10:g.(?_41197689)_(41267802_?)del
NC_000017.10:g.(?_41197695)_(41203134_?)del
NC_000017.10:g.(?_41199654)_(41251903_?)del
NC_000017.10:g.(?_41203074)_(41203140_?)del
NC_000017.10:g.(?_41209049)_(41209172_?)del
NC_000017.10:g.(?_41209063)_(41209158_?)del
NC_000017.10:g.(?_41209063)_(41226544_?)del
NC_000017.10:g.(?_41215330)_(41215988_?)dup
NC_000017.10:g.(?_41215344)_(41215396_?)del
NC_000017.10:g.(?_41222939)_(41228637_?)del
NC_000017.10:g.(?_41226328)_(41267816_?)del
NC_000017.10:g.(?_41226342)_(41246883_?)del
NC_000017.10:g.(?_41226342)_(41267802_?)del
NC_000017.10:g.(?_41234401)_(41234612_?)del
NC_000017.10:g.(?_41234401)_(41234612_?)dup
NC_000017.10:g.(?_41242941)_(41258570_?)del
NC_000017.10:g.(?_41242955)_(41258556_?)del
NC_000017.10:g.(?_41247857)_(41258556_?)del
NC_000017.10:g.(?_41251772)_(41267816_?)del
NC_000017.10:g.(?_41256119)_(41267816_?)del
NC_000017.10:g.(?_41256133)_(41267802_?)del
NC_000017.10:g.(?_41256865)_(41258570_?)del
NM_007294.3(BRCA1):c.(?_-1)_80+?del
NM_007294.3(BRCA1):c.-19-?_80+?del
NM_007294.3(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.3(BRCA1):c.102del (p.Val35fs) rs886039922
NM_007294.3(BRCA1):c.1058_1062del (p.Glu352_Trp353insTer) rs1555592576
NM_007294.3(BRCA1):c.105_134+1007del
NM_007294.3(BRCA1):c.1066C>T (p.Gln356Ter) rs80357215
NM_007294.3(BRCA1):c.1086_1141del (p.Asn363fs) rs80359875
NM_007294.3(BRCA1):c.1091_1092del (p.Pro364fs) rs1555592526
NM_007294.3(BRCA1):c.112_113del (p.Lys38fs) rs80357949
NM_007294.3(BRCA1):c.1140dup (p.Lys381fs) rs876659327
NM_007294.3(BRCA1):c.1148del (p.Asn383fs) rs878854930
NM_007294.3(BRCA1):c.1155G>A (p.Trp385Ter) rs876660558
NM_007294.3(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.3(BRCA1):c.1179_1180dup (p.Gly394fs) rs1555592304
NM_007294.3(BRCA1):c.1188del (p.Asp396fs) rs397508845
NM_007294.3(BRCA1):c.1190del (p.Asp397fs) rs748714307
NM_007294.3(BRCA1):c.1204del (p.Glu402fs) rs80357859
NM_007294.3(BRCA1):c.1214C>G (p.Ser405Ter) rs80357481
NM_007294.3(BRCA1):c.1224del (p.Lys408_Val409insTer) rs879255320
NM_007294.3(BRCA1):c.1230del (p.Asp411fs) rs1555592108
NM_007294.3(BRCA1):c.1240dup (p.Asp414fs) rs786204260
NM_007294.3(BRCA1):c.1252del (p.Glu418fs) rs876660623
NM_007294.3(BRCA1):c.1252dup (p.Glu418fs) rs886039936
NM_007294.3(BRCA1):c.1285del (p.Lys428_Ile429insTer) rs1567800172
NM_007294.3(BRCA1):c.1292del (p.Leu431fs) rs80357528
NM_007294.3(BRCA1):c.1293dup (p.Leu432fs)
NM_007294.3(BRCA1):c.133_134+3delAAGTAinsT rs397508856
NM_007294.3(BRCA1):c.1340_1341insG (p.His448fs) rs80357597
NM_007294.3(BRCA1):c.135-1G>C rs80358158
NM_007294.3(BRCA1):c.135-1G>T rs80358158
NM_007294.3(BRCA1):c.135-?_441+?del
NM_007294.3(BRCA1):c.135-?_5193+?del
NM_007294.3(BRCA1):c.1356_1357AG[2] (p.Glu453_Ser454insTer) rs80357969
NM_007294.3(BRCA1):c.1380dupA (p.Ile460_Phe461delinsIleIleTrpfs) rs80357714
NM_007294.3(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs) rs80357770
NM_007294.3(BRCA1):c.1389_1390delinsG (p.Thr464fs) rs273897659
NM_007294.3(BRCA1):c.141C>A (p.Cys47Ter) rs398122635
NM_007294.3(BRCA1):c.1439dupA (p.Asn480Lysfs) rs80357505
NM_007294.3(BRCA1):c.143del (p.Met48fs) rs80357637
NM_007294.3(BRCA1):c.1444_1447del (p.Leu481_Ile482insTer) rs80357801
NM_007294.3(BRCA1):c.1480C>T (p.Gln494Ter) rs80357010
NM_007294.3(BRCA1):c.1480dup (p.Gln494fs) rs1555591706
NM_007294.3(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.3(BRCA1):c.1505_1509del (p.Leu502fs) rs876659139
NM_007294.3(BRCA1):c.1512dup (p.Lys505Ter) rs398122636
NM_007294.3(BRCA1):c.1551del (p.Phe517fs) rs80357630
NM_007294.3(BRCA1):c.1561_1564delinsTAAA (p.Ala521_Asp522delinsTer) rs397508883
NM_007294.3(BRCA1):c.1576_1577del (p.Gln526fs) rs1567799078
NM_007294.3(BRCA1):c.1601_1602del (p.Gln534fs) rs878854933
NM_007294.3(BRCA1):c.1641_1642insG (p.Ile548fs)
NM_007294.3(BRCA1):c.1673_1674del (p.Lys558fs) rs80357600
NM_007294.3(BRCA1):c.1674del (p.Gly559fs) rs80357600
NM_007294.3(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898
NM_007294.3(BRCA1):c.1700dup (p.Asn567fs) rs80357784
NM_007294.3(BRCA1):c.171dup (p.Pro58fs) rs80357660
NM_007294.3(BRCA1):c.1723G>T (p.Glu575Ter) rs397508902
NM_007294.3(BRCA1):c.1785del (p.Glu595fs) rs1567798263
NM_007294.3(BRCA1):c.1793T>A (p.Leu598Ter) rs80357118
NM_007294.3(BRCA1):c.1799del (p.Ile600fs) rs878854934
NM_007294.3(BRCA1):c.1812del (p.Ala605fs) rs80357927
NM_007294.3(BRCA1):c.181T>G (p.Cys61Gly) rs28897672
NM_007294.3(BRCA1):c.1823_1826delAGAA (p.Lys608Ilefs) rs80357585
NM_007294.3(BRCA1):c.1831del (p.Arg610_Leu611insTer) rs397508913
NM_007294.3(BRCA1):c.1836dup (p.Arg613fs) rs876660523
NM_007294.3(BRCA1):c.1874_1877dupTAGT (p.Val627Serfs) rs80357516
NM_007294.3(BRCA1):c.1881_1884del (p.Ser628fs) rs80357567
NM_007294.3(BRCA1):c.1889del (p.Asn630fs)
NM_007294.3(BRCA1):c.188T>A (p.Leu63Ter) rs80357086
NM_007294.3(BRCA1):c.1892dupT (p.Ser632Lysfs) rs80357932
NM_007294.3(BRCA1):c.190T>G (p.Cys64Gly) rs80357064
NM_007294.3(BRCA1):c.1918C>T (p.Gln640Ter) rs886039981
NM_007294.3(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.3(BRCA1):c.1923dup (p.Asp642Ter) rs878854935
NM_007294.3(BRCA1):c.1949dup (p.Lys652fs) rs879255480
NM_007294.3(BRCA1):c.1953_1956delGAAA (p.Lys653Serfs) rs80357526
NM_007294.3(BRCA1):c.1960A>T (p.Lys654Ter) rs80357355
NM_007294.3(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.3(BRCA1):c.1961dupA (p.Lys654delinsLysValfs) rs80357522
NM_007294.3(BRCA1):c.19_47del (p.Arg7fs) rs80359871
NM_007294.3(BRCA1):c.2019del (p.Glu673fs) rs80357626
NM_007294.3(BRCA1):c.2022_2023dup (p.Ala675fs)
NM_007294.3(BRCA1):c.202dup (p.Ile68fs) rs886039990
NM_007294.3(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
NM_007294.3(BRCA1):c.2037delinsCC (p.Lys679fs) rs397508932
NM_007294.3(BRCA1):c.2043dup (p.Asn682Ter) rs863224510
NM_007294.3(BRCA1):c.2066dup (p.Ser689fs) rs1567797130
NM_007294.3(BRCA1):c.2070_2071del (p.Arg691fs) rs80357688
NM_007294.3(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.3(BRCA1):c.2090dup (p.Glu699fs) rs886039996
NM_007294.3(BRCA1):c.2101A>T (p.Lys701Ter) rs876660282
NM_007294.3(BRCA1):c.2101_2102del (p.Lys701fs) rs431825389
NM_007294.3(BRCA1):c.2105dup (p.Leu702fs) rs80357880
NM_007294.3(BRCA1):c.2110_2111del (p.Asn704fs) rs80357814
NM_007294.3(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.3(BRCA1):c.212+1G>T rs80358042
NM_007294.3(BRCA1):c.2125_2126insA (p.Phe709fs) rs80357871
NM_007294.3(BRCA1):c.213-11T>G rs80358061
NM_007294.3(BRCA1):c.213-12A>G rs80358163
NM_007294.3(BRCA1):c.2130delinsAA (p.Cys712fs) rs1060502332
NM_007294.3(BRCA1):c.2131_2132del (p.Lys711fs) rs398122653
NM_007294.3(BRCA1):c.2138C>G (p.Ser713Ter) rs80357233
NM_007294.3(BRCA1):c.2143_2155delinsTCTTT (p.Thr715fs) rs1567796807
NM_007294.3(BRCA1):c.2157dup (p.Glu720fs) rs80357715
NM_007294.3(BRCA1):c.2160del (p.Glu720fs)
NM_007294.3(BRCA1):c.2162_2163del (p.Phe721fs) rs1555590319
NM_007294.3(BRCA1):c.2176_2177del (p.Leu726fs) rs397508945
NM_007294.3(BRCA1):c.2199del (p.Lys734fs) rs80357944
NM_007294.3(BRCA1):c.2209del (p.Thr737fs) rs1060502333
NM_007294.3(BRCA1):c.220C>T (p.Gln74Ter) rs80357234
NM_007294.3(BRCA1):c.2210_2211del (p.Thr737fs) rs80357654
NM_007294.3(BRCA1):c.2214del (p.Val740fs) rs80357574
NM_007294.3(BRCA1):c.2214dup (p.Lys739Ter) rs80357574
NM_007294.3(BRCA1):c.2217dup (p.Val740fs) rs80357802
NM_007294.3(BRCA1):c.2226_2227del (p.Asn742fs) rs878854938
NM_007294.3(BRCA1):c.2228del (p.Asn743fs) rs1555590121
NM_007294.3(BRCA1):c.2241dupC (p.Lys748Glnfs) rs80357650
NM_007294.3(BRCA1):c.2273T>A (p.Leu758Ter) rs1060502334
NM_007294.3(BRCA1):c.2299del (p.Ser767fs) rs80357786
NM_007294.3(BRCA1):c.2309C>A (p.Ser770Ter) rs80357063
NM_007294.3(BRCA1):c.2309C>G (p.Ser770Ter) rs80357063
NM_007294.3(BRCA1):c.2311_2317del (p.Pro773fs) rs1060502354
NM_007294.3(BRCA1):c.2337_2338del (p.Gln780fs) rs80357515
NM_007294.3(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007294.3(BRCA1):c.2346dup (p.Ile783fs) rs886040027
NM_007294.3(BRCA1):c.2354T>A (p.Leu785Ter) rs397508961
NM_007294.3(BRCA1):c.2359dupG (p.Glu787Glyfs) rs80357739
NM_007294.3(BRCA1):c.2378dup (p.Ala794fs) rs864622536
NM_007294.3(BRCA1):c.2386_2387delinsT (p.Lys795_Thr796insTer) rs876660305
NM_007294.3(BRCA1):c.2386del (p.Thr796fs)
NM_007294.3(BRCA1):c.2389_2390del (p.Glu797fs) rs80357695
NM_007294.3(BRCA1):c.2394_2397AAAT[1] (p.Lys800fs) rs786202684
NM_007294.3(BRCA1):c.2406_2409del (p.Gln804fs) rs80357674
NM_007294.3(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.3(BRCA1):c.2418del (p.Ala807fs) rs879255281
NM_007294.3(BRCA1):c.241C>T (p.Gln81Ter) rs80357350
NM_007294.3(BRCA1):c.2429dup (p.Asn810fs) rs397508967
NM_007294.3(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.3(BRCA1):c.2443del (p.Ile815fs) rs80357598
NM_007294.3(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.3(BRCA1):c.2475del (p.Asp825fs) rs80357970
NM_007294.3(BRCA1):c.2506del (p.Glu836fs) rs587780798
NM_007294.3(BRCA1):c.250G>T (p.Glu84Ter) rs398122661
NM_007294.3(BRCA1):c.2551G>T (p.Glu851Ter) rs398122662
NM_007294.3(BRCA1):c.2563C>T (p.Gln855Ter) rs80357131
NM_007294.3(BRCA1):c.2589_2594delinsATTCTTTT (p.Ser864fs) rs1567795017
NM_007294.3(BRCA1):c.2594del (p.Lys865fs) rs80357756
NM_007294.3(BRCA1):c.2599C>T (p.Gln867Ter) rs886038001
NM_007294.3(BRCA1):c.2612delinsTT (p.Pro871fs) rs397508986
NM_007294.3(BRCA1):c.2630del (p.Asn877fs) rs886038002
NM_007294.3(BRCA1):c.2635G>T (p.Glu879Ter) rs80357251
NM_007294.3(BRCA1):c.2643dup (p.Cys882fs) rs397508989
NM_007294.3(BRCA1):c.2677A>T (p.Lys893Ter) rs80357170
NM_007294.3(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.3(BRCA1):c.2680_2687del (p.Lys894fs) rs1555589143
NM_007294.3(BRCA1):c.2681_2682del (p.Lys894fs) rs80357971
NM_007294.3(BRCA1):c.2706_2707dup (p.Cys903fs) rs80357717
NM_007294.3(BRCA1):c.2713C>T (p.Gln905Ter) rs397509002
NM_007294.3(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.3(BRCA1):c.2726dupA (p.Asn909Lysfs) rs80357614
NM_007294.3(BRCA1):c.2727_2730del (p.Asn909fs) rs80357605
NM_007294.3(BRCA1):c.2744_2745del (p.Glu914_Ser915insTer) rs80357540
NM_007294.3(BRCA1):c.2766del (p.Val923fs) rs80357812
NM_007294.3(BRCA1):c.279_280delinsGAA (p.Phe93fs) rs1555596663
NM_007294.3(BRCA1):c.2800C>T (p.Gln934Ter) rs80357223
NM_007294.3(BRCA1):c.2806_2809del (p.Asp936fs) rs80357832
NM_007294.3(BRCA1):c.2834_2836delinsC (p.Ser945fs) rs386134270
NM_007294.3(BRCA1):c.2835_2836insCC (p.Ile946fs)
NM_007294.3(BRCA1):c.283_286del (p.Leu95fs) rs1567811070
NM_007294.3(BRCA1):c.2865del (p.Ser956fs)
NM_007294.3(BRCA1):c.2866_2870del (p.Ser956fs) rs80357819
NM_007294.3(BRCA1):c.288_292delinsAACCTGT (p.Asp96fs) rs483353091
NM_007294.3(BRCA1):c.2901_2902dup (p.Pro968fs) rs398122670
NM_007294.3(BRCA1):c.2912_2913del (p.His971fs) rs878854940
NM_007294.3(BRCA1):c.2933dup (p.Tyr978Ter) rs878853292
NM_007294.3(BRCA1):c.2934T>G (p.Tyr978Ter) rs80357115
NM_007294.3(BRCA1):c.2940del (p.Pro981fs) rs80357876
NM_007294.3(BRCA1):c.2960dup (p.Ser988fs) rs886040088
NM_007294.3(BRCA1):c.2984del (p.Lys995fs)
NM_007294.3(BRCA1):c.2999del (p.Glu1000fs) rs80357991
NM_007294.3(BRCA1):c.3005delA (p.Asn1002Thrfs) rs80357601
NM_007294.3(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer) rs80357617
NM_007294.3(BRCA1):c.302-2delA rs273899695
NM_007294.3(BRCA1):c.3029_3030del (p.Pro1010fs) rs80357510
NM_007294.3(BRCA1):c.3033_3034del (p.Glu1013fs) rs1567793163
NM_007294.3(BRCA1):c.303T>G (p.Tyr101Ter) rs80356936
NM_007294.3(BRCA1):c.3044dup (p.Asn1016fs) rs80357746
NM_007294.3(BRCA1):c.3048_3052dupTGAGA (p.Asn1018Metfs) rs80357856
NM_007294.3(BRCA1):c.3066del (p.Thr1022_Val1023insTer) rs786202906
NM_007294.3(BRCA1):c.3084_3094del (p.Asn1029fs) rs80357647
NM_007294.3(BRCA1):c.3103_3104del (p.Val1035fs) rs1555588392
NM_007294.3(BRCA1):c.3108_3109insSVA (p.Lys1037_Glu1038insXaa)
NM_007294.3(BRCA1):c.3117del (p.Ser1040fs) rs1555588361
NM_007294.3(BRCA1):c.3135_3138del (p.Asn1045fs) rs1567792767
NM_007294.3(BRCA1):c.3161_3164dup (p.Ser1056fs) rs1567792675
NM_007294.3(BRCA1):c.3178G>T (p.Glu1060Ter) rs80357424
NM_007294.3(BRCA1):c.3193dup (p.Asp1065fs) rs80357511
NM_007294.3(BRCA1):c.3205del (p.Gln1069fs) rs886040103
NM_007294.3(BRCA1):c.3214del (p.Glu1071_Leu1072insTer) rs80357923
NM_007294.3(BRCA1):c.3224dup (p.Asn1075fs)
NM_007294.3(BRCA1):c.3226_3227AG[1] (p.Gly1077fs) rs80357635
NM_007294.3(BRCA1):c.3257T>G (p.Leu1086Ter) rs80357006
NM_007294.3(BRCA1):c.3294del (p.Pro1099fs) rs876658626
NM_007294.3(BRCA1):c.329del (p.Lys110fs) rs80357604
NM_007294.3(BRCA1):c.329dup (p.Glu111fs) rs80357604
NM_007294.3(BRCA1):c.3329del (p.Lys1110fs) rs80357575
NM_007294.3(BRCA1):c.3331C>T (p.Gln1111Ter) rs80357089
NM_007294.3(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.3(BRCA1):c.3351dup (p.Gln1118fs) rs80357785
NM_007294.3(BRCA1):c.3400G>T (p.Glu1134Ter) rs80357018
NM_007294.3(BRCA1):c.3401_3405del (p.Glu1134fs) rs1555587781
NM_007294.3(BRCA1):c.3433del (p.Val1145fs)
NM_007294.3(BRCA1):c.3436_3439del (p.Cys1146fs) rs397509067
NM_007294.3(BRCA1):c.346del (p.Glu116fs) rs762635795
NM_007294.3(BRCA1):c.3477_3480del (p.Ile1159fs) rs80357781
NM_007294.3(BRCA1):c.3481G>T (p.Glu1161Ter) rs786203438
NM_007294.3(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.3(BRCA1):c.3485del (p.Asp1162fs) rs80357509
NM_007294.3(BRCA1):c.3511A>T (p.Lys1171Ter) rs730882164
NM_007294.3(BRCA1):c.3543_3544insGA (p.Gln1182fs) rs1555587537
NM_007294.3(BRCA1):c.3571del (p.Ser1191fs) rs886040145
NM_007294.3(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.3(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308
NM_007294.3(BRCA1):c.3627dupA (p.Glu1210Argfs) rs80357729
NM_007294.3(BRCA1):c.3635C>G (p.Ser1212Ter) rs886038021
NM_007294.3(BRCA1):c.3641del (p.Glu1214fs) rs1567790791
NM_007294.3(BRCA1):c.3648_3652del (p.Leu1216_Ser1217insTer) rs1555587333
NM_007294.3(BRCA1):c.3648dupA (p.Ser1217Ilefs) rs80357902
NM_007294.3(BRCA1):c.3661G>T (p.Glu1221Ter) rs80357310
NM_007294.3(BRCA1):c.3668_3671dupTTCC (p.Cys1225Serfs) rs80357797
NM_007294.3(BRCA1):c.3672del (p.Cys1225fs) rs398122677
NM_007294.3(BRCA1):c.3695_3699GTAAA[1] (p.Val1234fs) rs80357609
NM_007294.3(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer) rs797044631
NM_007294.3(BRCA1):c.3718C>T (p.Gln1240Ter) rs80356903
NM_007294.3(BRCA1):c.3726dup (p.Arg1243Ter) rs1567790420
NM_007294.3(BRCA1):c.3748G>T (p.Glu1250Ter) rs28897686
NM_007294.3(BRCA1):c.374dup (p.Gln126fs) rs1555596392
NM_007294.3(BRCA1):c.3752_3755GTCT[1] (p.Ser1253fs) rs80357868
NM_007294.3(BRCA1):c.3759dupT (p.Lys1254Terfs) rs80357687
NM_007294.3(BRCA1):c.3761_3762insTT (p.Lys1254fs) rs80357928
NM_007294.3(BRCA1):c.3764dupA (p.Asn1255Lysfs) rs80357848
NM_007294.3(BRCA1):c.3768_3769AG[1] (p.Glu1257fs) rs80357579
NM_007294.3(BRCA1):c.3800T>G (p.Leu1267Ter) rs587782190
NM_007294.3(BRCA1):c.3817C>T (p.Gln1273Ter) rs80357208
NM_007294.3(BRCA1):c.3825del (p.Leu1276fs) rs1555586983
NM_007294.3(BRCA1):c.3841C>T (p.Gln1281Ter) rs80356866
NM_007294.3(BRCA1):c.3858_3861del (p.Ser1286fs) rs80357842
NM_007294.3(BRCA1):c.3868A>T (p.Lys1290Ter) rs80357254
NM_007294.3(BRCA1):c.3869_3870del (p.Lys1290fs) rs80357918
NM_007294.3(BRCA1):c.3874del (p.Ser1292fs) rs587780802
NM_007294.3(BRCA1):c.3876_3877del (p.Ser1292_Ala1293insTer)
NM_007294.3(BRCA1):c.3893C>G (p.Ser1298Ter) rs80357440
NM_007294.3(BRCA1):c.390C>A (p.Tyr130Ter) rs80356888
NM_007294.3(BRCA1):c.3910G>T (p.Glu1304Ter) rs886038028
NM_007294.3(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_007294.3(BRCA1):c.3928dup (p.Thr1310fs) rs886040176
NM_007294.3(BRCA1):c.3937C>T (p.Gln1313Ter) rs80357318
NM_007294.3(BRCA1):c.3949_3976dup (p.His1326fs)
NM_007294.3(BRCA1):c.3954dup (p.Gly1319fs) rs1135401870
NM_007294.3(BRCA1):c.3963_3966CAAA[1] (p.Lys1322_Gln1323insTer)
NM_007294.3(BRCA1):c.3967C>T (p.Gln1323Ter) rs80357262
NM_007294.3(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.3(BRCA1):c.3G>T (p.Met1Ile) rs80357475
NM_007294.3(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.3(BRCA1):c.4039A>T (p.Arg1347Ter) rs28897689
NM_007294.3(BRCA1):c.4039_4040AG[1] (p.Gly1348fs) rs80357727
NM_007294.3(BRCA1):c.4045_4046insTA (p.Thr1349fs)
NM_007294.3(BRCA1):c.4064_4066delinsT (p.Asn1355fs) rs1060502345
NM_007294.3(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.3(BRCA1):c.406dupA (p.Arg136Lysfs) rs80357709
NM_007294.3(BRCA1):c.4072G>T (p.Glu1358Ter) rs397509136
NM_007294.3(BRCA1):c.4110_4111del (p.Gly1371fs) rs80357529
NM_007294.3(BRCA1):c.4113del (p.Cys1372fs) rs80357861
NM_007294.3(BRCA1):c.4117G>T (p.Glu1373Ter) rs80357259
NM_007294.3(BRCA1):c.411dup (p.Leu138fs) rs886040205
NM_007294.3(BRCA1):c.4122_4123del (p.Ser1374fs) rs80357691
NM_007294.3(BRCA1):c.4128_4129del (p.Ser1377fs) rs80357921
NM_007294.3(BRCA1):c.4159_4160TC[1] (p.Gln1388fs) rs80357565
NM_007294.3(BRCA1):c.415C>T (p.Gln139Ter) rs80357372
NM_007294.3(BRCA1):c.4161_4164del (p.Gln1388fs)
NM_007294.3(BRCA1):c.4162C>T (p.Gln1388Ter) rs876660601
NM_007294.3(BRCA1):c.4163_4164AG[1] (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.3(BRCA1):c.4185+2_4185+22del21insA rs273900724
NM_007294.3(BRCA1):c.4186-2A>G rs878854950
NM_007294.3(BRCA1):c.4186-?_4357+?dup172
NM_007294.3(BRCA1):c.4186-?_4675+?del
NM_007294.3(BRCA1):c.4186-?_5193+?del
NM_007294.3(BRCA1):c.4194_4267del (p.Asp1398fs)
NM_007294.3(BRCA1):c.4195del (p.Thr1399fs) rs1567783654
NM_007294.3(BRCA1):c.4196_4197delinsT (p.Thr1399fs) rs886040213
NM_007294.3(BRCA1):c.4214dup (p.Leu1407fs)
NM_007294.3(BRCA1):c.4222C>T (p.Gln1408Ter) rs80356989
NM_007294.3(BRCA1):c.4225C>T (p.Gln1409Ter) rs886040218
NM_007294.3(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.3(BRCA1):c.4300dupA (p.Ser1434Lysfs) rs80357790
NM_007294.3(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.3(BRCA1):c.4335_4338dup (p.Gln1447fs) rs397509164
NM_007294.3(BRCA1):c.4354A>T (p.Lys1452Ter) rs398122685
NM_007294.3(BRCA1):c.4357+1G>A rs80358027
NM_007294.3(BRCA1):c.4358-?_4484+?del
NM_007294.3(BRCA1):c.4358-?_5277+?del
NM_007294.3(BRCA1):c.4370C>A (p.Ser1457Ter) rs80357130
NM_007294.3(BRCA1):c.4379del (p.Ser1460fs) rs786203149
NM_007294.3(BRCA1):c.4382_4388dup (p.Tyr1463Ter) rs1567779838
NM_007294.3(BRCA1):c.4389C>A (p.Tyr1463Ter) rs80356997
NM_007294.3(BRCA1):c.4389C>G (p.Tyr1463Ter) rs80356997
NM_007294.3(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) rs273900730
NM_007294.3(BRCA1):c.4392del (p.Pro1464_Ile1465insTer) rs1064793577
NM_007294.3(BRCA1):c.442-22_442-13delTGTTCTTTAC rs879254224
NM_007294.3(BRCA1):c.442-?_4357+?del
NM_007294.3(BRCA1):c.442-?_547+?del
NM_007294.3(BRCA1):c.442-?_593+?del
NM_007294.3(BRCA1):c.445del (p.Glu149fs) rs1060502327
NM_007294.3(BRCA1):c.4474G>T (p.Gly1492Ter) rs863224511
NM_007294.3(BRCA1):c.4484+1G>A rs80358063
NM_007294.3(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.3(BRCA1):c.4485-?_4675+?del
NM_007294.3(BRCA1):c.4485-?_4986+?del
NM_007294.3(BRCA1):c.4493del (p.Pro1498fs) rs398122687
NM_007294.3(BRCA1):c.4503C>A (p.Cys1501Ter) rs747539984
NM_007294.3(BRCA1):c.4508C>G (p.Ser1503Ter) rs80357437
NM_007294.3(BRCA1):c.4523G>A (p.Trp1508Ter) rs786202631
NM_007294.3(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.3(BRCA1):c.4566C>A (p.Tyr1522Ter) rs886040234
NM_007294.3(BRCA1):c.456_457del (p.Ser153fs) rs80357882
NM_007294.3(BRCA1):c.4573C>T (p.Gln1525Ter) rs886040237
NM_007294.3(BRCA1):c.4574_4575del (p.Gln1525fs) rs80357813
NM_007294.3(BRCA1):c.45dup (p.Asn16Ter) rs730881457
NM_007294.3(BRCA1):c.4609_4610insCC (p.Gln1537fs) rs886038035
NM_007294.3(BRCA1):c.460_467del (p.Val154fs) rs1060502362
NM_007294.3(BRCA1):c.4611_4612insG (p.Gln1538fs) rs80357915
NM_007294.3(BRCA1):c.4612C>T (p.Gln1538Ter) rs80356992
NM_007294.3(BRCA1):c.4616dup (p.Glu1540fs) rs1555581874
NM_007294.3(BRCA1):c.4618_4621delinsAAA (p.Glu1540fs) rs886040240
NM_007294.3(BRCA1):c.4654_4655insC (p.Tyr1552fs) rs1555581824
NM_007294.3(BRCA1):c.4656C>G (p.Tyr1552Ter) rs80357151
NM_007294.3(BRCA1):c.466_467CT[2] (p.Leu156_Ser157insTer) rs80357887
NM_007294.3(BRCA1):c.4672del (p.Asp1557_Leu1558insTer)
NM_007294.3(BRCA1):c.4675+1G>A rs80358044
NM_007294.3(BRCA1):c.4675+1G>T rs80358044
NM_007294.3(BRCA1):c.4676-?_4986+?del
NM_007294.3(BRCA1):c.4676-?_5074+?del
NM_007294.3(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433
NM_007294.3(BRCA1):c.4699_4700dup (p.Ile1568fs)
NM_007294.3(BRCA1):c.469_470insAT (p.Ser157fs) rs1555594935
NM_007294.3(BRCA1):c.4709dup (p.Phe1571fs) rs864622132
NM_007294.3(BRCA1):c.4754dup (p.Glu1586fs)
NM_007294.3(BRCA1):c.4782del (p.Ser1595fs)
NM_007294.3(BRCA1):c.4799dup (p.Leu1600fs) rs587782392
NM_007294.3(BRCA1):c.4810del (p.Gln1604fs) rs1555580900
NM_007294.3(BRCA1):c.4822dup (p.Ala1608fs) rs1135401933
NM_007294.3(BRCA1):c.4828dup (p.Ser1610fs) rs1555580854
NM_007294.3(BRCA1):c.4891dup (p.Ser1631fs) rs80357656
NM_007294.3(BRCA1):c.490del (p.Thr164fs) rs863224512
NM_007294.3(BRCA1):c.4936del (p.Val1646fs) rs80357653
NM_007294.3(BRCA1):c.4941del (p.Asn1647fs) rs80357905
NM_007294.3(BRCA1):c.4942A>T (p.Lys1648Ter)
NM_007294.3(BRCA1):c.4945_4947delinsTTTT (p.Arg1649fs) rs397509207
NM_007294.3(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.3(BRCA1):c.4976del (p.Pro1659fs) rs879255295
NM_007294.3(BRCA1):c.4986+6T>C rs80358086
NM_007294.3(BRCA1):c.4987-1G>A rs730881495
NM_007294.3(BRCA1):c.4987-?_5074+?del
NM_007294.3(BRCA1):c.4987-?_5193+?del
NM_007294.3(BRCA1):c.4996_4997dup (p.Lys1667fs) rs1555579782
NM_007294.3(BRCA1):c.500_503del (p.Thr167fs)
NM_007294.3(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.3(BRCA1):c.5030_5033dup (p.Leu1679_Ile1680insTer) rs80357580
NM_007294.3(BRCA1):c.5030_5034CTAAT[1] (p.Leu1679fs) rs80357623
NM_007294.3(BRCA1):c.5050_5051del (p.Thr1684fs) rs879255283
NM_007294.3(BRCA1):c.5053A>G (p.Thr1685Ala) rs80356890
NM_007294.3(BRCA1):c.5059_5061GTT[1] (p.Val1688del) rs80358344
NM_007294.3(BRCA1):c.5059del (p.Val1687fs) rs1555579633
NM_007294.3(BRCA1):c.505C>T (p.Gln169Ter) rs80357133
NM_007294.3(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.3(BRCA1):c.5074+1G>A rs80358053
NM_007294.3(BRCA1):c.5075-?_5193+?del
NM_007294.3(BRCA1):c.5075-?_5193+?dup119
NM_007294.3(BRCA1):c.5080G>T (p.Glu1694Ter) rs80356896
NM_007294.3(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.3(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5102_5103del (p.Leu1701fs) rs80357608
NM_007294.3(BRCA1):c.5106del (p.Lys1702fs) rs80357553
NM_007294.3(BRCA1):c.5109T>G (p.Tyr1703Ter) rs80356974
NM_007294.3(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.3(BRCA1):c.5129del (p.Gly1710fs) rs1135401829
NM_007294.3(BRCA1):c.512dup (p.Gln172fs) rs587781487
NM_007294.3(BRCA1):c.5136G>A (p.Trp1712Ter) rs80357418
NM_007294.3(BRCA1):c.5137del (p.Trp1712_Val1713insTer) rs80357997
NM_007294.3(BRCA1):c.5137dup (p.Val1713fs) rs80357997
NM_007294.3(BRCA1):c.513dup (p.Gln172fs)
NM_007294.3(BRCA1):c.514del (p.Gln172fs) rs80357872
NM_007294.3(BRCA1):c.5152+1G>C rs80358094
NM_007294.3(BRCA1):c.5152+1G>T rs80358094
NM_007294.3(BRCA1):c.5153-1G>C rs80358137
NM_007294.3(BRCA1):c.5153-2delA rs273901746
NM_007294.3(BRCA1):c.5155_5158dup (p.Thr1720fs) rs1555578402
NM_007294.3(BRCA1):c.5155_5159delinsAAA (p.Val1719fs) rs1555578398
NM_007294.3(BRCA1):c.5173_5176GAAA[1] (p.Arg1726fs) rs80357867
NM_007294.3(BRCA1):c.5176A>T (p.Arg1726Ter)
NM_007294.3(BRCA1):c.5176del (p.Arg1726fs) rs876658478
NM_007294.3(BRCA1):c.5179A>T (p.Lys1727Ter) rs80357347
NM_007294.3(BRCA1):c.5182dup (p.Met1728fs) rs34570933
NM_007294.3(BRCA1):c.5186del (p.Leu1729fs) rs398122692
NM_007294.3(BRCA1):c.5191G>T (p.Glu1731Ter) rs397507244
NM_007294.3(BRCA1):c.5194-1_5197delinsTATT rs1555576990
NM_007294.3(BRCA1):c.5202del (p.Phe1734fs) rs876659867
NM_007294.3(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.3(BRCA1):c.5209_5210AG[1] (p.Gly1738fs) rs1555576959
NM_007294.3(BRCA1):c.520C>T (p.Gln174Ter) rs1567806048
NM_007294.3(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.3(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.3(BRCA1):c.5232_5238delinsGTCCAAAGCGAG (p.Asn1745fs) rs483353071
NM_007294.3(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123
NM_007294.3(BRCA1):c.5259del (p.Glu1754fs) rs80357925
NM_007294.3(BRCA1):c.5260G>T (p.Glu1754Ter) rs80357432
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.3(BRCA1):c.5277+1G>A rs80358150
NM_007294.3(BRCA1):c.5278-1G>A rs80358099
NM_007294.3(BRCA1):c.5278-?_5406+?del
NM_007294.3(BRCA1):c.5278-?_5467+?del
NM_007294.3(BRCA1):c.5319dup (p.Asn1774fs) rs80357823
NM_007294.3(BRCA1):c.531dup (p.Val178fs) rs864622350
NM_007294.3(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463
NM_007294.3(BRCA1):c.5332+1G>A rs80358041
NM_007294.3(BRCA1):c.5333-1G>T rs80358126
NM_007294.3(BRCA1):c.5333-?_5406+?del
NM_007294.3(BRCA1):c.5335del (p.Gln1779fs) rs80357590
NM_007294.3(BRCA1):c.5353C>T (p.Gln1785Ter) rs80356969
NM_007294.3(BRCA1):c.5359_5363delinsAGTGA (p.Cys1787_Gly1788delinsSerAsp) rs786203663
NM_007294.3(BRCA1):c.5363G>T (p.Gly1788Val) rs80357069
NM_007294.3(BRCA1):c.5365_5366delinsA (p.Ala1789fs) rs1555575142
NM_007294.3(BRCA1):c.536_547+165del rs1555594718
NM_007294.3(BRCA1):c.5387C>A (p.Ser1796Ter) rs80357055
NM_007294.3(BRCA1):c.5407-?_*(1_?)del
NM_007294.3(BRCA1):c.5427dup (p.Val1810fs) rs1555574739
NM_007294.3(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962
NM_007294.3(BRCA1):c.5467+1G>A rs80358145
NM_007294.3(BRCA1):c.5468_*1383del
NM_007294.3(BRCA1):c.547+2T>A rs80358047
NM_007294.3(BRCA1):c.5470_5477delATTGGGCA (p.Ile1824Aspfs) rs80357973
NM_007294.3(BRCA1):c.5474_5481del (p.Gly1825fs) rs730881441
NM_007294.3(BRCA1):c.548-?_4185+?del
NM_007294.3(BRCA1):c.5485dup (p.Glu1829fs) rs768401297
NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007294.3(BRCA1):c.5521del (p.Ser1841fs) rs80357721
NM_007294.3(BRCA1):c.5558dup (p.Tyr1853Ter) rs80357629
NM_007294.3(BRCA1):c.615dup (p.Gln206fs) rs1567803215
NM_007294.3(BRCA1):c.628C>T (p.Gln210Ter) rs879255495
NM_007294.3(BRCA1):c.649del (p.Ser217fs) rs878854963
NM_007294.3(BRCA1):c.65_66insTA (p.Leu22fs) rs1567823254
NM_007294.3(BRCA1):c.668del (p.Lys223fs) rs80357537
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914
NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs) rs80357783
NM_007294.3(BRCA1):c.671-2A>G rs80358108
NM_007294.3(BRCA1):c.671-2A>T rs80358108
NM_007294.3(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.3(BRCA1):c.685del (p.Ser229fs) rs80357824
NM_007294.3(BRCA1):c.689_692del (p.Glu230fs) rs886040308
NM_007294.3(BRCA1):c.697_698del (p.Val233fs) rs80357747
NM_007294.3(BRCA1):c.70_80delTGTCCCATCTG (p.Cys24Serfs) rs80357696
NM_007294.3(BRCA1):c.744del (p.Thr249fs) rs1060502360
NM_007294.3(BRCA1):c.754del (p.Arg252fs) rs1555593195
NM_007294.3(BRCA1):c.779dup (p.Tyr261fs) rs886040317
NM_007294.3(BRCA1):c.788dup (p.Gly263_Ser264insTer) rs886040319
NM_007294.3(BRCA1):c.796_807delinsA (p.Val266fs) rs1064792958
NM_007294.3(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.3(BRCA1):c.81-2A>C rs397509326
NM_007294.3(BRCA1):c.81-?_134+?del
NM_007294.3(BRCA1):c.81-?_4986+?del
NM_007294.3(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.3(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.3(BRCA1):c.862del (p.Ser288fs) rs886040327
NM_007294.3(BRCA1):c.875del (p.Leu292fs) rs886037981
NM_007294.3(BRCA1):c.885_888del (p.Asp295fs) rs1060502359
NM_007294.3(BRCA1):c.893_894del (p.Asn298fs) rs1555592891
NM_007294.3(BRCA1):c.89T>A (p.Leu30Ter) rs397509331
NM_007294.3(BRCA1):c.922_924delinsT (p.Lys307_Ser308insTer) rs397509335
NM_007294.3(BRCA1):c.931_934dup (p.Gly312fs)
NM_007294.3(BRCA1):c.952_1015del (p.His318fs) rs80359872
NM_007294.3(BRCA1):c.954del (p.His318fs) rs1567801398
NM_007294.3(BRCA1):c.962G>A (p.Trp321Ter) rs80357292
NM_007294.3(BRCA1):c.963G>A (p.Trp321Ter) rs886040335
NM_007294.3(BRCA1):c.97G>T (p.Glu33Ter) rs80357066
NM_007294.3(BRCA1):c.981_982del (p.Thr327_Cys328insTer) rs80357772
Single allele

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