ClinVar Miner

List of variants in gene BRCA1 reported as likely pathogenic for Hereditary breast and ovarian cancer syndrome

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Gene type:
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Total variants: 165
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HGVS dbSNP
NC_000017.10:g.(?_41201118)_(41203154_?)dup
NC_000017.10:g.(?_41209049)_(41215988_?)dup
NC_000017.10:g.(?_41209063)_(41209158_?)dup
NC_000017.10:g.(?_41228505)_(41234592_?)dup
NC_000017.10:g.(?_41234401)_(41258570_?)dup
NC_000017.10:g.(?_41234415)_(41258556_?)dup
NC_000017.10:g.(?_41251772)_(41251917_?)dup
NC_000017.10:g.(?_41251772)_(41267816_?)dup
NC_000017.10:g.(?_41267737)_(41267802_?)dup
NC_000017.11:g.(?_43070908)_(43071258_?)dup
NC_000017.11:g.(?_43074311)_(43082595_?)dup
NC_000017.11:g.(?_43076468)_(43082595_?)dup
NC_000017.11:g.(?_43090924)_(43099904_?)del
NC_000017.11:g.(?_43090924)_(43115799_?)dup
NC_000017.11:g.(?_43106450)_(43106539_?)del
NC_000017.11:g.(?_43115706)_(43115799_?)dup
NM_007294.3(BRCA1):c.134+1G>C rs80358043
NM_007294.3(BRCA1):c.135-?_441+?dup
NM_007294.3(BRCA1):c.301+1G>T rs587782173
NM_007294.3(BRCA1):c.4185+4105C>T rs1597853155
NM_007294.3(BRCA1):c.4357+2T>G rs80358152
NM_007294.3(BRCA1):c.4358-2A>G rs1555582723
NM_007294.3(BRCA1):c.4358-?_5074+?del
NM_007294.3(BRCA1):c.442-22_442-13del rs879254224
NM_007294.3(BRCA1):c.442-?_547+?(2)
NM_007294.3(BRCA1):c.442C>T (p.Gln148Ter) rs876659614
NM_007294.3(BRCA1):c.4484+5G>C rs886040910
NM_007294.3(BRCA1):c.4485-2A>C rs80358054
NM_007294.3(BRCA1):c.4485-2A>T rs80358054
NM_007294.3(BRCA1):c.4675+1G>C rs80358044
NM_007294.3(BRCA1):c.4676-1G>A rs80358008
NM_007294.3(BRCA1):c.4676-1G>C rs80358008
NM_007294.3(BRCA1):c.4676-2A>C rs80358096
NM_007294.3(BRCA1):c.4676-2A>G rs80358096
NM_007294.3(BRCA1):c.4986+5G>A rs397509211
NM_007294.3(BRCA1):c.4987-2A>G rs397509212
NM_007294.3(BRCA1):c.5074+2T>A rs80358089
NM_007294.3(BRCA1):c.5075-?_5277+?dup203
NM_007294.3(BRCA1):c.5152+2dupT rs397509231
NM_007294.3(BRCA1):c.5153-2A>G rs786202545
NM_007294.3(BRCA1):c.5194-12G>A rs80358079
NM_007294.3(BRCA1):c.5277+1del rs273901754
NM_007294.3(BRCA1):c.5278-?_5406+?dup129
NM_007294.3(BRCA1):c.5333-3T>G rs397509265
NM_007294.3(BRCA1):c.5406+4_5406+7del rs1555575073
NM_007294.3(BRCA1):c.5406+5G>T rs80358073
NM_007294.3(BRCA1):c.5467+2T>C rs80358009
NM_007294.3(BRCA1):c.5467+2T>G rs80358009
NM_007294.3(BRCA1):c.5468-1_5468delinsTT rs1597797251
NM_007294.3(BRCA1):c.547+1G>A rs80358030
NM_007294.3(BRCA1):c.547+1G>C rs80358030
NM_007294.3(BRCA1):c.671-2A>G rs80358108
NM_007294.3(BRCA1):c.81-9C>G rs80358127
NM_007294.3(BRCA1):c.81-?_134+?del
NM_007294.4(BRCA1):c.1091_1092del (p.Pro364fs) rs1555592526
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe) rs80357498
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.4(BRCA1):c.122_134delinsT (p.His41_Lys45delinsLeu) rs1555599205
NM_007294.4(BRCA1):c.1292del (p.Leu431fs) rs80357528
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.132C>G (p.Cys44Trp) rs876658362
NM_007294.4(BRCA1):c.134+5G>A rs80358038
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs) rs80357770
NM_007294.4(BRCA1):c.139T>G (p.Cys47Gly) rs80357370
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs) rs879255476
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.1670_1674del (p.Thr557fs)
NM_007294.4(BRCA1):c.1825_1829del (p.Asn609fs) rs1555591170
NM_007294.4(BRCA1):c.192T>G (p.Cys64Trp) rs587781632
NM_007294.4(BRCA1):c.1969C>T (p.Gln657Ter) rs397508926
NM_007294.4(BRCA1):c.1994del (p.Asn665fs) rs1555590714
NM_007294.4(BRCA1):c.212+3A>G rs80358083
NM_007294.4(BRCA1):c.212+3A>T
NM_007294.4(BRCA1):c.212G>T (p.Arg71Met) rs80356913
NM_007294.4(BRCA1):c.2235dup (p.Asp746fs)
NM_007294.4(BRCA1):c.2295del (p.Ser766fs) rs1567796243
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs) rs886040027
NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter) rs62625306
NM_007294.4(BRCA1):c.2429dup (p.Asn810fs) rs397508967
NM_007294.4(BRCA1):c.2620_2621del (p.Asn874fs) rs587781423
NM_007294.4(BRCA1):c.2693_2694dup (p.Val899fs) rs80357549
NM_007294.4(BRCA1):c.2728del (p.Gln910fs) rs397509005
NM_007294.4(BRCA1):c.2806_2807del (p.Lys935_Asp936insTer) rs886038004
NM_007294.4(BRCA1):c.2861dup (p.Ser955fs) rs886040079
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) rs864622444
NM_007294.4(BRCA1):c.2959A>T (p.Lys987Ter) rs878854941
NM_007294.4(BRCA1):c.2990_3971dup (p.Met1324delinsIleSerAlaArgGlyLysLeuTer)
NM_007294.4(BRCA1):c.3289dup (p.Ser1097fs) rs80357686
NM_007294.4(BRCA1):c.3334del (p.Glu1112fs) rs1555587944
NM_007294.4(BRCA1):c.3475dup (p.Ile1159fs) rs1555587638
NM_007294.4(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer) rs797044631
NM_007294.4(BRCA1):c.379del (p.Ser127fs) rs1555596373
NM_007294.4(BRCA1):c.3865del (p.Thr1289fs)
NM_007294.4(BRCA1):c.3964A>T (p.Lys1322Ter) rs80357343
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.4097-20_4134del
NM_007294.4(BRCA1):c.4185+1G>C
NM_007294.4(BRCA1):c.4211del (p.Leu1404fs) rs1555584251
NM_007294.4(BRCA1):c.4224G>C (p.Gln1408His) rs1597848407
NM_007294.4(BRCA1):c.4243G>T (p.Glu1415Ter) rs1057519558
NM_007294.4(BRCA1):c.4358-2786G>A rs374435098
NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs) rs786204267
NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs) rs397509170
NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter) rs138608489
NM_007294.4(BRCA1):c.4485-2A>G rs80358054
NM_007294.4(BRCA1):c.4516del (p.Asp1506fs) rs273900736
NM_007294.4(BRCA1):c.4534del (p.Ser1512fs) rs1567778176
NM_007294.4(BRCA1):c.4568del (p.Pro1523fs) rs1567778075
NM_007294.4(BRCA1):c.4623_4632del (p.Glu1541fs) rs1567777811
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.4870_4871insA (p.Gly1624fs)
NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro) rs1057518639
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4997dup (p.Tyr1666Ter) rs876658947
NM_007294.4(BRCA1):c.5014_5016CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) rs80187739
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5092G>T (p.Glu1698Ter)
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.4(BRCA1):c.5116G>A (p.Gly1706Arg) rs886040864
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.5152+5G>T
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly) rs45553935
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5232_5238delinsGTCCAAAGCGAG (p.Asn1745fs) rs483353071
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser) rs80356905
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val) rs863224765
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro) rs80357474
NM_007294.4(BRCA1):c.5363G>C (p.Gly1788Ala) rs80357069
NM_007294.4(BRCA1):c.5427dup (p.Val1810fs) rs1555574739
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg) rs80357040
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys) rs80356914
NM_007294.4(BRCA1):c.5517_5518insC (p.Asp1840fs) rs1597796956
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.4(BRCA1):c.5527G>C (p.Ala1843Pro) rs80357019
NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs) rs886040305
NM_007294.4(BRCA1):c.5557_5569del (p.Tyr1853fs)
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.4(BRCA1):c.5558_5561dup (p.Ile1855fs)
NM_007294.4(BRCA1):c.5563delinsGGATCC (p.Ile1855fs) rs483353103
NM_007294.4(BRCA1):c.5569del (p.Gln1857fs) rs886039675
NM_007294.4(BRCA1):c.614T>G (p.Leu205Ter) rs1555593598
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.671-1G>T rs80358020
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg) rs80357410
NM_007294.4(BRCA1):c.72T>G (p.Cys24Trp) rs1597923232
NM_007294.4(BRCA1):c.80G>A (p.Cys27Tyr) rs1064793052
NM_007294.4(BRCA1):c.80G>C (p.Cys27Ser) rs1064793052
NM_007294.4(BRCA1):c.80G>T (p.Cys27Phe) rs1064793052
NM_007294.4(BRCA1):c.933del (p.Gly312fs) rs1135401839
NM_007294.4(BRCA1):c.942_956delinsCTTACTTC (p.Arg315fs) rs1555592766

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