ClinVar Miner

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

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Total variants: 129
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HGVS dbSNP
NC_000017.11:g.(?_43057032)_(43063971_?)dup
NC_000017.11:g.(?_43057046)_(43057141_?)dup
NC_000017.11:g.(?_43076488)_(43082575_?)dup
NC_000017.11:g.(?_43082384)_(43106553_?)dup
NC_000017.11:g.(?_43082398)_(43106539_?)dup
NC_000017.11:g.(?_43106450)_(43106539_?)del
NM_007294.3(BRCA1):c.1091_1092delCT (p.Pro364Glnfs) rs1555592526
NM_007294.3(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498
NM_007294.3(BRCA1):c.117T>G (p.Cys39Trp) rs886040898
NM_007294.3(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.3(BRCA1):c.122_134delACATATTTTGCAAinsT (p.His41_Lys45delinsLeu) rs1555599205
NM_007294.3(BRCA1):c.1292delT (p.Leu431Tyrfs) rs80357528
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.3(BRCA1):c.134+1G>C rs80358043
NM_007294.3(BRCA1):c.134+2T>C rs80358131
NM_007294.3(BRCA1):c.135-1G>A rs80358158
NM_007294.3(BRCA1):c.135-?_441+?dup
NM_007294.3(BRCA1):c.139T>G (p.Cys47Gly) rs80357370
NM_007294.3(BRCA1):c.1407_1408delAA (p.Ser470Profs) rs879255476
NM_007294.3(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.3(BRCA1):c.1825_1829delAATAG (p.Asn609Alafs) rs1555591170
NM_007294.3(BRCA1):c.192T>G (p.Cys64Trp) rs587781632
NM_007294.3(BRCA1):c.1969C>T (p.Gln657Ter) rs397508926
NM_007294.3(BRCA1):c.1994delA (p.Asn665Thrfs) rs1555590714
NM_007294.3(BRCA1):c.212+3A>G rs80358083
NM_007294.3(BRCA1):c.212G>C (p.Arg71Thr) rs80356913
NM_007294.3(BRCA1):c.2346dupT (p.Ile783Tyrfs) rs886040027
NM_007294.3(BRCA1):c.2389G>T (p.Glu797Ter) rs62625306
NM_007294.3(BRCA1):c.2429dupA (p.Asn810Lysfs) rs397508967
NM_007294.3(BRCA1):c.2693_2694dupAA (p.Val899Lysfs) rs80357549
NM_007294.3(BRCA1):c.2728delC (p.Gln910Lysfs) rs397509005
NM_007294.3(BRCA1):c.2861dupT (p.Ser955Ilefs) rs886040079
NM_007294.3(BRCA1):c.2959A>T (p.Lys987Ter) rs878854941
NM_007294.3(BRCA1):c.301+2T>C
NM_007294.3(BRCA1):c.3289dupA (p.Ser1097Lysfs) rs80357686
NM_007294.3(BRCA1):c.3334delG (p.Glu1112Asnfs) rs1555587944
NM_007294.3(BRCA1):c.3475dup (p.Ile1159Asnfs) rs1555587638
NM_007294.3(BRCA1):c.3705_3747dup (p.Glu1250Glnfs) rs797044631
NM_007294.3(BRCA1):c.379delA (p.Ser127Valfs) rs1555596373
NM_007294.3(BRCA1):c.3964A>T (p.Lys1322Ter) rs80357343
NM_007294.3(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.3(BRCA1):c.4211delT (p.Leu1404Argfs) rs1555584251
NM_007294.3(BRCA1):c.4243G>T (p.Glu1415Ter) rs1057519558
NM_007294.3(BRCA1):c.4357+2T>G rs80358152
NM_007294.3(BRCA1):c.4358-2786G>A rs374435098
NM_007294.3(BRCA1):c.4358-?_5074+?del
NM_007294.3(BRCA1):c.4386dupA (p.Tyr1463Ilefs) rs786204267
NM_007294.3(BRCA1):c.4396dup (p.Ser1466Lysfs) rs397509170
NM_007294.3(BRCA1):c.442-1G>T rs1351019392
NM_007294.3(BRCA1):c.442-22_442-13delTGTTCTTTAC rs879254224
NM_007294.3(BRCA1):c.442-?_547+?(2)
NM_007294.3(BRCA1):c.442C>T (p.Gln148Ter) rs876659614
NM_007294.3(BRCA1):c.4468G>T (p.Glu1490Ter) rs138608489
NM_007294.3(BRCA1):c.4485-2A>C
NM_007294.3(BRCA1):c.4485-2A>G rs80358054
NM_007294.3(BRCA1):c.4485-2A>T rs80358054
NM_007294.3(BRCA1):c.4516delG (p.Asp1506Ilefs) rs273900736
NM_007294.3(BRCA1):c.4568del (p.Pro1523Hisfs)
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.4834_4835delCA (p.Gln1612Glufs) rs1555580840
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.4963T>C (p.Ser1655Pro) rs1057518639
NM_007294.3(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.3(BRCA1):c.4986+3G>C rs80358023
NM_007294.3(BRCA1):c.4986+4A>C rs80358087
NM_007294.3(BRCA1):c.4986+4A>T rs80358087
NM_007294.3(BRCA1):c.4986+5G>A rs397509211
NM_007294.3(BRCA1):c.4987-2A>C rs397509212
NM_007294.3(BRCA1):c.4987-2A>G rs397509212
NM_007294.3(BRCA1):c.4997dupA (p.Tyr1666Terfs) rs876658947
NM_007294.3(BRCA1):c.5017_5019delCAC (p.His1673del) rs80358343
NM_007294.3(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_007294.3(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.3(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.3(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.3(BRCA1):c.5074+2T>C rs80358089
NM_007294.3(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.3(BRCA1):c.5074G>C (p.Asp1692His) rs80187739
NM_007294.3(BRCA1):c.5075-?_5277+?dup203
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5116G>A (p.Gly1706Arg) rs886040864
NM_007294.3(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.3(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.3(BRCA1):c.5152+2dupT rs397509231
NM_007294.3(BRCA1):c.5152+5G>C rs80358165
NM_007294.3(BRCA1):c.5153-2A>G rs786202545
NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.3(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.3(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.3(BRCA1):c.5277+1G>T rs80358150
NM_007294.3(BRCA1):c.5277+1_5277+6del rs1060502356
NM_007294.3(BRCA1):c.5277+1delG rs273901754
NM_007294.3(BRCA1):c.5278-1G>A rs80358099
NM_007294.3(BRCA1):c.5278-?_5406+?dup129
NM_007294.3(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.3(BRCA1):c.5309G>T (p.Gly1770Val) rs863224765
NM_007294.3(BRCA1):c.5332+2T>C rs80358182
NM_007294.3(BRCA1):c.5427dup (p.Val1810Cysfs) rs1555574739
NM_007294.3(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.3(BRCA1):c.5467+2T>C rs80358009
NM_007294.3(BRCA1):c.5468-1G>A rs80358048
NM_007294.3(BRCA1):c.5468-2A>G rs398122699
NM_007294.3(BRCA1):c.547+1G>A rs80358030
NM_007294.3(BRCA1):c.547+1G>C rs80358030
NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.3(BRCA1):c.5503dupC (p.Arg1835Profs) rs397509291
NM_007294.3(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.3(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.3(BRCA1):c.5511G>T (p.Trp1837Cys) rs80356914
NM_007294.3(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.3(BRCA1):c.5525delT (p.Val1842Glufs) rs864622220
NM_007294.3(BRCA1):c.5527G>C (p.Ala1843Pro) rs80357019
NM_007294.3(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.3(BRCA1):c.5569delC (p.Gln1857Argfs) rs886039675
NM_007294.3(BRCA1):c.614T>G (p.Leu205Ter) rs1555593598
NM_007294.3(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.3(BRCA1):c.70T>C (p.Cys24Arg) rs80357410
NM_007294.3(BRCA1):c.80+1G>T rs80358010
NM_007294.3(BRCA1):c.81-1G>A rs80358018
NM_007294.3(BRCA1):c.81-?_134+?del
NM_007294.3(BRCA1):c.933delT (p.Gly312Alafs) rs1135401839
NM_007294.3(BRCA1):c.942_956delAAGGAGCCAACATAAinsCTTACTTC (p.Arg315Leufs) rs1555592766
NM_007294.3:c.2295delG
NM_007294.3:c.2620_2621delAA
NM_007294.3:c.4534delA
NM_007294.3:c.4623_4632del10

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