ClinVar Miner

List of variants in gene BRCA1 reported by ITMI

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Gene type:
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Total variants: 46
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HGVS dbSNP
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.1137T>G (p.Ile379Met) rs56128296
NM_007294.3(BRCA1):c.1427A>G (p.His476Arg) rs55720177
NM_007294.3(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.3(BRCA1):c.1487G>A (p.Arg496His) rs28897677
NM_007294.3(BRCA1):c.1511G>A (p.Arg504His) rs56272539
NM_007294.3(BRCA1):c.1561G>A (p.Ala521Thr) rs80357122
NM_007294.3(BRCA1):c.1616C>T (p.Thr539Met) rs80357374
NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.3(BRCA1):c.2207A>C (p.Glu736Ala) rs397507196
NM_007294.3(BRCA1):c.2330A>G (p.Tyr777Cys) rs587778116
NM_007294.3(BRCA1):c.2412G>C (p.Gln804His) rs55746541
NM_007294.3(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.3(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.3(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847
NM_007294.3(BRCA1):c.290C>T (p.Thr97Ile) rs431825393
NM_007294.3(BRCA1):c.3022A>G (p.Met1008Val) rs56321129
NM_007294.3(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007294.3(BRCA1):c.3083G>A (p.Arg1028His) rs80357459
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.3(BRCA1):c.3277G>T (p.Val1093Phe) rs587778117
NM_007294.3(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.3(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.3(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.3(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686
NM_007294.3(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280
NM_007294.3(BRCA1):c.397C>T (p.Arg133Cys) rs80357457
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075
NM_007294.3(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.3(BRCA1):c.4600G>A (p.Val1534Met) rs55815649
NM_007294.3(BRCA1):c.466C>G (p.Leu156Val) rs587778115
NM_007294.3(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.3(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854
NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.3(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007294.3(BRCA1):c.5411T>A (p.Val1804Asp) rs80356920
NM_007294.3(BRCA1):c.5504G>A (p.Arg1835Gln) rs273902776
NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007294.3(BRCA1):c.787G>A (p.Gly263Ser) rs397509318
NM_007294.3(BRCA1):c.824G>A (p.Gly275Asp) rs397509327

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