ClinVar Miner

List of variants in gene BRCA1 reported by ClinVar Staff, National Center for Biotechnology Information (NCBI)

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 264
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HGVS dbSNP
NM_007294.3(BRCA1):c.1040del (p.Leu347fs) rs397508828
NM_007294.3(BRCA1):c.1063A>T (p.Lys355Ter) rs397508829
NM_007294.3(BRCA1):c.1076C>T (p.Pro359Leu) rs397508831
NM_007294.3(BRCA1):c.1080_1081insA (p.Ser361fs) rs397508832
NM_007294.3(BRCA1):c.1099dup (p.Thr367fs) rs397508835
NM_007294.3(BRCA1):c.1100dup (p.Thr367_Glu368insTer) rs397508836
NM_007294.3(BRCA1):c.1112del (p.Pro371fs) rs397508837
NM_007294.3(BRCA1):c.1120_1121AC[1] (p.Leu375fs) rs397508839
NM_007294.3(BRCA1):c.1158_1159del (p.Ser387fs) rs397508842
NM_007294.3(BRCA1):c.1159dup (p.Ser387fs) rs397508842
NM_007294.3(BRCA1):c.1175_1178del (p.Leu392fs) rs397508844
NM_007294.3(BRCA1):c.1193C>A (p.Ser398Ter) rs80357068
NM_007294.3(BRCA1):c.1217del (p.Asn406fs) rs397508846
NM_007294.3(BRCA1):c.122del (p.His41fs) rs397508847
NM_007294.3(BRCA1):c.1262A>G (p.Glu421Gly) rs397508849
NM_007294.3(BRCA1):c.1263_1264AT[3] (p.Ser423fs) rs397508850
NM_007294.3(BRCA1):c.1279G>T (p.Glu427Ter) rs397508851
NM_007294.3(BRCA1):c.1293_1295delinsGA (p.Leu432fs) rs397508852
NM_007294.3(BRCA1):c.130T>C (p.Cys44Arg) rs80357327
NM_007294.3(BRCA1):c.130T>G (p.Cys44Gly) rs80357327
NM_007294.3(BRCA1):c.1319dup (p.Leu440fs) rs80357683
NM_007294.3(BRCA1):c.1339dup (p.Val447fs) rs397508855
NM_007294.3(BRCA1):c.135-6T>G rs397508859
NM_007294.3(BRCA1):c.1363_1364insGA (p.Asn455fs) rs397508860
NM_007294.3(BRCA1):c.1380del (p.Phe461fs) rs397508863
NM_007294.3(BRCA1):c.1393T>G (p.Tyr465Asp) rs397508869
NM_007294.3(BRCA1):c.1458T>A (p.Phe486Leu) rs80357400
NM_007294.3(BRCA1):c.1499_1508dup (p.Arg504_Lys505insTer) rs397508873
NM_007294.3(BRCA1):c.1504_1518del (p.Leu502_Arg506del) rs397508875
NM_007294.3(BRCA1):c.1506_1510del (p.Leu502_Lys503insTer) rs397508876
NM_007294.3(BRCA1):c.1517_1521del (p.Arg506fs) rs397508879
NM_007294.3(BRCA1):c.1519A>T (p.Arg507Ter) rs397508880
NM_007294.3(BRCA1):c.1544A>G (p.Glu515Gly) rs397508881
NM_007294.3(BRCA1):c.1565_1566insC (p.Leu523fs) rs397508884
NM_007294.3(BRCA1):c.1570del (p.Ala524fs) rs397508886
NM_007294.3(BRCA1):c.1595_1601del (p.Ile532fs) rs397508888
NM_007294.3(BRCA1):c.160del (p.Gln54fs) rs397508890
NM_007294.3(BRCA1):c.1631A>C (p.Gln544Pro) rs397508892
NM_007294.3(BRCA1):c.1655G>T (p.Gly552Val) rs397508893
NM_007294.3(BRCA1):c.1660G>T (p.Glu554Ter) rs397508894
NM_007294.3(BRCA1):c.1669A>G (p.Thr557Ala) rs397508895
NM_007294.3(BRCA1):c.167A>G (p.Lys56Arg) rs397508897
NM_007294.3(BRCA1):c.168A>T (p.Lys56Asn) rs397508898
NM_007294.3(BRCA1):c.1690A>C (p.Asn564His) rs397507191
NM_007294.3(BRCA1):c.1700del (p.Asn567fs) rs80357784
NM_007294.3(BRCA1):c.1716dup (p.Ser573fs) rs397508900
NM_007294.3(BRCA1):c.1741A>T (p.Lys581Ter) rs397508905
NM_007294.3(BRCA1):c.1744A>G (p.Thr582Ala) rs397508906
NM_007294.3(BRCA1):c.176_177CA[1] (p.Gln60fs) rs397508907
NM_007294.3(BRCA1):c.1817del (p.Pro606fs) rs397508910
NM_007294.3(BRCA1):c.1846dup (p.Ser616fs) rs397508914
NM_007294.3(BRCA1):c.188T>C (p.Leu63Ser) rs80357086
NM_007294.3(BRCA1):c.190_193del (p.Cys64fs) rs397508917
NM_007294.3(BRCA1):c.1932T>G (p.Cys644Trp) rs397508918
NM_007294.3(BRCA1):c.1960A>G (p.Lys654Glu) rs80357355
NM_007294.3(BRCA1):c.1963dup (p.Tyr655fs) rs397508924
NM_007294.3(BRCA1):c.1967A>G (p.Asn656Ser) rs397508925
NM_007294.3(BRCA1):c.2012_2013dup (p.Lys672fs) rs397508928
NM_007294.3(BRCA1):c.2021del (p.Pro674fs) rs397508930
NM_007294.3(BRCA1):c.2028_2029del (p.Gly677fs) rs397508931
NM_007294.3(BRCA1):c.2048del (p.Lys683fs) rs397508933
NM_007294.3(BRCA1):c.2075_2076del (p.His692fs) rs397508936
NM_007294.3(BRCA1):c.2086del (p.Thr696fs) rs397508937
NM_007294.3(BRCA1):c.211dup (p.Arg71fs) rs397508938
NM_007294.3(BRCA1):c.2166del (p.Asn723fs) rs397508943
NM_007294.3(BRCA1):c.2174del (p.Ser725fs) rs397508944
NM_007294.3(BRCA1):c.2196del (p.Glu733fs) rs397508948
NM_007294.3(BRCA1):c.2211_2212del (p.Thr737_Val738insTer) rs397508950
NM_007294.3(BRCA1):c.2308del (p.Ser770fs) rs397508956
NM_007294.3(BRCA1):c.230C>G (p.Thr77Arg) rs80357209
NM_007294.3(BRCA1):c.230delinsGTCAACTTGTT (p.Thr77fs) rs397508957
NM_007294.3(BRCA1):c.2310_2311insC (p.Val772fs) rs1555589947
NM_007294.3(BRCA1):c.2325_2326insA (p.Asp776fs) rs397508959
NM_007294.3(BRCA1):c.2389del (p.Glu797fs) rs397508965
NM_007294.3(BRCA1):c.2413T>C (p.Cys805Arg) rs397508966
NM_007294.3(BRCA1):c.2440_2441insA (p.Leu814fs) rs397508969
NM_007294.3(BRCA1):c.2486_2487del (p.Gly828_Phe829insTer) rs80357658
NM_007294.3(BRCA1):c.2551del (p.Glu851fs) rs397508977
NM_007294.3(BRCA1):c.2556del (p.Asp853fs) rs397508978
NM_007294.3(BRCA1):c.2556dup (p.Asp853Ter) rs397508978
NM_007294.3(BRCA1):c.2564_2565insTTGAT (p.Gln855delinsHisTer) rs397508982
NM_007294.3(BRCA1):c.2600A>G (p.Gln867Arg) rs397508985
NM_007294.3(BRCA1):c.2603C>A (p.Ser868Ter) rs80356925
NM_007294.3(BRCA1):c.2659_2660insA (p.Ala887fs) rs397508991
NM_007294.3(BRCA1):c.2665dup (p.Ser889fs) rs397508992
NM_007294.3(BRCA1):c.2671del (p.Ser891fs) rs397508993
NM_007294.3(BRCA1):c.2675T>C (p.Leu892Ser) rs397508994
NM_007294.3(BRCA1):c.2679_2680del (p.Lys894fs) rs397508995
NM_007294.3(BRCA1):c.2689_2690insA (p.Pro897fs) rs397508999
NM_007294.3(BRCA1):c.2728C>T (p.Gln910Ter) rs397509004
NM_007294.3(BRCA1):c.273T>G (p.Cys91Trp) rs397509006
NM_007294.3(BRCA1):c.2745dup (p.Asn916Ter) rs397509008
NM_007294.3(BRCA1):c.2798_2799del (p.Gly933fs) rs397509011
NM_007294.3(BRCA1):c.2812_2813del (p.Pro938fs) rs730882056
NM_007294.3(BRCA1):c.2844_2853del (p.Gly949fs) rs397509017
NM_007294.3(BRCA1):c.2848dup (p.Ser950fs) rs397509018
NM_007294.3(BRCA1):c.2870dup (p.Phe958fs) rs397509020
NM_007294.3(BRCA1):c.2872_2876del (p.Phe958fs) rs397509021
NM_007294.3(BRCA1):c.2879G>A (p.Gly960Asp) rs397509022
NM_007294.3(BRCA1):c.2921dup (p.Leu974fs) rs80357611
NM_007294.3(BRCA1):c.2929_2930dup (p.Tyr978fs) rs397509025
NM_007294.3(BRCA1):c.2967del (p.Phe989fs) rs397509028
NM_007294.3(BRCA1):c.2995C>A (p.Leu999Ile) rs80356848
NM_007294.3(BRCA1):c.3072C>G (p.Ser1024Arg) rs397509033
NM_007294.3(BRCA1):c.3074C>T (p.Thr1025Ile) rs397509034
NM_007294.3(BRCA1):c.3125_3134del (p.Ser1042fs) rs397509036
NM_007294.3(BRCA1):c.3140T>C (p.Val1047Ala) rs397509037
NM_007294.3(BRCA1):c.3152C>G (p.Thr1051Ser) rs397509039
NM_007294.3(BRCA1):c.3157del (p.Glu1053fs) rs397509041
NM_007294.3(BRCA1):c.3157dup (p.Glu1053fs) rs397509042
NM_007294.3(BRCA1):c.3164del (p.Gly1055fs) rs397509043
NM_007294.3(BRCA1):c.3169_3172del (p.Ser1057fs) rs397509045
NM_007294.3(BRCA1):c.3183del (p.Ile1061fs) rs397509046
NM_007294.3(BRCA1):c.3211dup (p.Glu1071fs) rs397509047
NM_007294.3(BRCA1):c.3228A>T (p.Arg1076Ser) rs397509048
NM_007294.3(BRCA1):c.3289del (p.Ser1097fs) rs80357686
NM_007294.3(BRCA1):c.329A>C (p.Lys110Thr) rs397509053
NM_007294.3(BRCA1):c.3359_3363del (p.Val1120fs) rs397509060
NM_007294.3(BRCA1):c.340T>C (p.Ser114Pro) rs397509062
NM_007294.3(BRCA1):c.3413del (p.Gly1138fs) rs397509063
NM_007294.3(BRCA1):c.3416del (p.Ser1139fs) rs397509064
NM_007294.3(BRCA1):c.3420dup (p.His1141fs) rs397509065
NM_007294.3(BRCA1):c.3450del (p.Asp1151fs) rs397509068
NM_007294.3(BRCA1):c.3450dup (p.Asp1151Ter) rs397509069
NM_007294.3(BRCA1):c.3468del (p.Asp1156fs) rs397509070
NM_007294.3(BRCA1):c.346G>A (p.Glu116Lys) rs397509071
NM_007294.3(BRCA1):c.3479_3488del (p.Lys1160fs) rs397509073
NM_007294.3(BRCA1):c.3481del (p.Glu1161fs) rs397509074
NM_007294.3(BRCA1):c.3491G>T (p.Ser1164Ile) rs397509075
NM_007294.3(BRCA1):c.3505_3509del (p.Asn1168_Asp1169insTer) rs397509078
NM_007294.3(BRCA1):c.3540_3541del (p.Val1181fs) rs397509080
NM_007294.3(BRCA1):c.3549_3550del (p.Gly1184fs) rs730882057
NM_007294.3(BRCA1):c.3575_3576insAA (p.Phe1193fs) rs397509082
NM_007294.3(BRCA1):c.3613G>C (p.Gly1205Arg) rs80357294
NM_007294.3(BRCA1):c.3621_3626delinsAA (p.Leu1209fs) rs397509087
NM_007294.3(BRCA1):c.3626dup (p.Leu1209fs) rs80357571
NM_007294.3(BRCA1):c.3647T>G (p.Leu1216Ter) rs397509091
NM_007294.3(BRCA1):c.3649dup (p.Ser1217fs) rs1555587345
NM_007294.3(BRCA1):c.3715del (p.Ser1239fs) rs397509096
NM_007294.3(BRCA1):c.3716dup (p.Gln1240fs) rs397509097
NM_007294.3(BRCA1):c.3722C>G (p.Ser1241Cys) rs80357143
NM_007294.3(BRCA1):c.3758C>A (p.Ser1253Tyr) rs397509100
NM_007294.3(BRCA1):c.3771_3778del (p.Glu1257fs) rs397509104
NM_007294.3(BRCA1):c.3772G>T (p.Glu1258Ter) rs397509105
NM_007294.3(BRCA1):c.3782T>G (p.Leu1261Ter) rs397507219
NM_007294.3(BRCA1):c.3822_3823insT (p.Ile1275fs) rs397509111
NM_007294.3(BRCA1):c.3829G>C (p.Ala1277Pro) rs397509112
NM_007294.3(BRCA1):c.3871_3872insC (p.Cys1291fs) rs397509114
NM_007294.3(BRCA1):c.3876del (p.Ala1293fs) rs397509115
NM_007294.3(BRCA1):c.3880_3883del (p.Ser1294fs) rs397509116
NM_007294.3(BRCA1):c.38_39delinsGGG (p.Asn13fs) rs1567823382
NM_007294.3(BRCA1):c.3927_3930del (p.Asn1309fs) rs397509120
NM_007294.3(BRCA1):c.3982dup (p.Ser1328fs) rs397509124
NM_007294.3(BRCA1):c.3999del (p.Gly1334fs) rs397509125
NM_007294.3(BRCA1):c.4029_4031TGA[1] (p.Asp1344del) rs397509129
NM_007294.3(BRCA1):c.4072G>A (p.Glu1358Lys) rs397509136
NM_007294.3(BRCA1):c.4094del (p.Asn1364_Leu1365insTer) rs397509138
NM_007294.3(BRCA1):c.4116T>A (p.Cys1372Ter) rs397509140
NM_007294.3(BRCA1):c.4167del (p.Ser1389fs) rs397509145
NM_007294.3(BRCA1):c.4172T>C (p.Ile1391Thr) rs397509146
NM_007294.3(BRCA1):c.4183_4185delCAG rs397509147
NM_007294.3(BRCA1):c.4186-1G>A rs397509150
NM_007294.3(BRCA1):c.4237G>T (p.Glu1413Ter) rs397509153
NM_007294.3(BRCA1):c.4242_4243insT (p.Glu1415Ter) rs397509155
NM_007294.3(BRCA1):c.4253T>G (p.Leu1418Ter) rs397509157
NM_007294.3(BRCA1):c.4282_4283del (p.Ser1428fs) rs397509159
NM_007294.3(BRCA1):c.4305_4306CT[1] (p.Ser1436fs) rs397509161
NM_007294.3(BRCA1):c.433_436CCTT[1] (p.Ser146fs) rs397509168
NM_007294.3(BRCA1):c.4343G>C (p.Ser1448Thr) rs80357354
NM_007294.3(BRCA1):c.4357+6T>G rs80358143
NM_007294.3(BRCA1):c.4391dup (p.Ile1465fs) rs80357916
NM_007294.3(BRCA1):c.4396del (p.Ser1466fs) rs397509170
NM_007294.3(BRCA1):c.4447del (p.Ser1483fs) rs397509177
NM_007294.3(BRCA1):c.4452_4455del (p.Thr1485fs) rs397509178
NM_007294.3(BRCA1):c.4471C>G (p.Pro1491Ala) rs111034213
NM_007294.3(BRCA1):c.4534_4535del (p.Ser1512fs) rs397509183
NM_007294.3(BRCA1):c.457_458del (p.Ser153fs) rs397509185
NM_007294.3(BRCA1):c.463C>T (p.Gln155Ter) rs80357180
NM_007294.3(BRCA1):c.470_477del (p.Ser157fs) rs397509190
NM_007294.3(BRCA1):c.472A>T (p.Asn158Tyr) rs397509192
NM_007294.3(BRCA1):c.4743A>C (p.Glu1581Asp) rs397509194
NM_007294.3(BRCA1):c.4764del (p.Arg1589fs) rs397509196
NM_007294.3(BRCA1):c.4777A>T (p.Ile1593Leu) rs397509197
NM_007294.3(BRCA1):c.4836dup (p.Ser1613fs) rs397509198
NM_007294.3(BRCA1):c.488del (p.Arg163fs) rs397509202
NM_007294.3(BRCA1):c.4910del (p.Pro1637fs) rs397509204
NM_007294.3(BRCA1):c.4986+5G>T rs397509211
NM_007294.3(BRCA1):c.4996T>C (p.Tyr1666His) rs397509215
NM_007294.3(BRCA1):c.5058T>A (p.His1686Gln) rs397509218
NM_007294.3(BRCA1):c.5072C>G (p.Thr1691Arg) rs80357034
NM_007294.3(BRCA1):c.5075-1G>T rs1800747
NM_007294.3(BRCA1):c.5075-4G>A rs397509220
NM_007294.3(BRCA1):c.5075_5078del (p.Asp1692fs) rs397509223
NM_007294.3(BRCA1):c.5077_5080delinsTTCATTCTGC (p.Ala1693_Glu1694delinsPheIleLeuGln) rs397509224
NM_007294.3(BRCA1):c.5087T>A (p.Val1696Glu) rs397509226
NM_007294.3(BRCA1):c.5152+4A>G rs397509232
NM_007294.3(BRCA1):c.5153-1G>T rs80358137
NM_007294.3(BRCA1):c.5179_5192del (p.Lys1727fs) rs397509234
NM_007294.3(BRCA1):c.5182del (p.Met1728fs) rs34570933
NM_007294.3(BRCA1):c.5194-2A>C rs80358069
NM_007294.3(BRCA1):c.5201T>C (p.Phe1734Ser) rs397509237
NM_007294.3(BRCA1):c.5203G>A (p.Glu1735Lys) rs397509238
NM_007294.3(BRCA1):c.5207del (p.Val1736fs) rs397509239
NM_007294.3(BRCA1):c.5231del (p.Arg1744fs) rs397509241
NM_007294.3(BRCA1):c.5241A>C (p.Gln1747His) rs397509242
NM_007294.3(BRCA1):c.5242G>A (p.Gly1748Ser) rs397507245
NM_007294.3(BRCA1):c.5245C>G (p.Pro1749Ala) rs397509244
NM_007294.3(BRCA1):c.5258G>A (p.Arg1753Lys) rs397509246
NM_007294.3(BRCA1):c.5258G>C (p.Arg1753Thr) rs397509246
NM_007294.3(BRCA1):c.5270_5276del (p.Asp1757fs) rs397509248
NM_007294.3(BRCA1):c.5277+1G>C rs80358150
NM_007294.3(BRCA1):c.5277+21T>G rs397509249
NM_007294.3(BRCA1):c.5277+3A>C rs397509250
NM_007294.3(BRCA1):c.5277+4A>T rs397509251
NM_007294.3(BRCA1):c.5277+5A>T rs397509252
NM_007294.3(BRCA1):c.5278-2A>T rs397509253
NM_007294.3(BRCA1):c.5278-6_5278-4delTTC rs397509254
NM_007294.3(BRCA1):c.5293G>T (p.Glu1765Ter) rs397509256
NM_007294.3(BRCA1):c.5323_5324del (p.Met1775fs) rs397509262
NM_007294.3(BRCA1):c.5332+1delG rs397509263
NM_007294.3(BRCA1):c.5332G>C (p.Asp1778His) rs80357112
NM_007294.3(BRCA1):c.5332G>T (p.Asp1778Tyr) rs80357112
NM_007294.3(BRCA1):c.5333-6T>G rs397509266
NM_007294.3(BRCA1):c.5355G>T (p.Gln1785His) rs397509269
NM_007294.3(BRCA1):c.5362G>T (p.Gly1788Cys) rs397509271
NM_007294.3(BRCA1):c.5369_5385del (p.Ser1790fs) rs397509272
NM_007294.3(BRCA1):c.536del (p.Tyr179fs) rs397509273
NM_007294.3(BRCA1):c.5377A>T (p.Lys1793Ter) rs397509274
NM_007294.3(BRCA1):c.5382G>T (p.Glu1794Asp) rs397509275
NM_007294.3(BRCA1):c.5414A>C (p.His1805Pro) rs397509281
NM_007294.3(BRCA1):c.5467+5G>C rs397509287
NM_007294.3(BRCA1):c.5467+8G>T rs80358062
NM_007294.3(BRCA1):c.548delG rs397509289
NM_007294.3(BRCA1):c.5497_5506del (p.Val1833fs) rs273902775
NM_007294.3(BRCA1):c.5532_5533insG (p.Tyr1845fs) rs397509293
NM_007294.3(BRCA1):c.5559C>G (p.Tyr1853Ter) rs80357336
NM_007294.3(BRCA1):c.557C>T (p.Ser186Phe) rs55688530
NM_007294.3(BRCA1):c.594-2A>G rs80358033
NM_007294.3(BRCA1):c.624_625insAGGGATGAAATCAGGAGCCA (p.Pro209fs) rs397509302
NM_007294.3(BRCA1):c.62dup (p.Glu23fs) rs397509303
NM_007294.3(BRCA1):c.64_65del (p.Leu22fs) rs397509304
NM_007294.3(BRCA1):c.668A>G (p.Lys223Arg) rs397509306
NM_007294.3(BRCA1):c.66_67insC (p.Glu23fs) rs1555600909
NM_007294.3(BRCA1):c.677_678insC (p.Cys226_Glu227insTer) rs397509307
NM_007294.3(BRCA1):c.72_73del (p.Pro25fs) rs397509311
NM_007294.3(BRCA1):c.73C>A (p.Pro25Thr) rs397509313
NM_007294.3(BRCA1):c.742dup (p.Thr248fs) rs397509314
NM_007294.3(BRCA1):c.75_80dup (p.Ile26_Cys27dup) rs397509315
NM_007294.3(BRCA1):c.768_769insA (p.His257fs) rs397509316
NM_007294.3(BRCA1):c.768_769insAG (p.His257fs) rs1555593156
NM_007294.3(BRCA1):c.787G>T (p.Gly263Cys) rs397509318
NM_007294.3(BRCA1):c.788G>C (p.Gly263Ala) rs397509319
NM_007294.3(BRCA1):c.788G>T (p.Gly263Val) rs397509319
NM_007294.3(BRCA1):c.790A>T (p.Ser264Cys) rs397509321
NM_007294.3(BRCA1):c.791G>A (p.Ser264Asn) rs397509322
NM_007294.3(BRCA1):c.80+6_80+9delTCAG rs397509325
NM_007294.3(BRCA1):c.81-6T>A rs80358179
NM_007294.3(BRCA1):c.814_824dup (p.Thr276fs) rs1555593031
NM_007294.3(BRCA1):c.827_828insT (p.Asn277fs) rs397509329
NM_007294.3(BRCA1):c.8T>G (p.Leu3Ter) rs397509332
NM_007294.3(BRCA1):c.903_904insC (p.Ala302fs) rs397509333
NM_007294.3(BRCA1):c.909del (p.Glu303fs) rs397509334
NM_007294.3(BRCA1):c.961del (p.Trp321fs) rs397509340
NM_007294.3(BRCA1):c.985_986del (p.Cys328_Asn329insTer) rs397509341

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