ClinVar Miner

List of variants in gene BRCA1 reported by Baylor Miraca Genetics Laboratories,

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Gene type:
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Total variants: 62
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HGVS dbSNP
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.1674del (p.Gly559fs) rs80357600
NM_007294.3(BRCA1):c.1912del (p.Glu638fs) rs80357933
NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.3(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.3(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
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.2814A>G (p.Pro938=) rs80356851
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.3(BRCA1):c.3226_3227AG[1] (p.Gly1077fs) rs80357635
NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.3(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.3(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.3(BRCA1):c.4603G>T (p.Glu1535Ter) rs80357366
NM_007294.3(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.3(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.3(BRCA1):c.4987-20A>G rs80358035
NM_007294.3(BRCA1):c.4992C>T (p.Leu1664=) rs142459158
NM_007294.3(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.3(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.3(BRCA1):c.5136G>A (p.Trp1712Ter) rs80357418
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.3(BRCA1):c.5278-14C>G rs80358105
NM_007294.3(BRCA1):c.5406+8T>C rs55946644
NM_007294.3(BRCA1):c.5468-10C>A rs8176316
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914
NM_007294.3(BRCA1):c.807G>A (p.Leu269=) rs149867679
NM_007294.3(BRCA1):c.81-13C>G rs56328013
NM_007294.3(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.3(BRCA1):c.828A>G (p.Thr276=) rs186274774
NM_007297.4(BRCA1):c.-8+8224C>T rs80358006
NM_007298.3(BRCA1):c.787+437del rs879255320
NM_007298.3(BRCA1):c.788-1063_788-1060del rs397509067
NM_007299.4(BRCA1):c.1018C>T (p.Arg340Ter) rs41293455
NM_007299.4(BRCA1):c.1048+17A>G rs80358180
NM_007299.4(BRCA1):c.114G>A (p.Lys38=) rs1800062
NM_007299.4(BRCA1):c.1644G>A (p.Met548Ile) rs1799967
NM_007299.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672
NM_007299.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007299.4(BRCA1):c.213-11T>G rs80358061
NM_007299.4(BRCA1):c.21C>T (p.Arg7=) rs149402012
NM_007299.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007299.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007299.4(BRCA1):c.75C>T (p.Pro25=) rs80356839
NM_007299.4(BRCA1):c.765G>A (p.Glu255=) rs62625299
NM_007299.4(BRCA1):c.787+1184A>G rs28897679
NM_007299.4(BRCA1):c.787+1295C>T rs1799949
NM_007299.4(BRCA1):c.787+1322A>G rs4986844
NM_007299.4(BRCA1):c.787+1524T>C rs16940
NM_007299.4(BRCA1):c.787+1779T>C rs80356892
NM_007299.4(BRCA1):c.787+1809C>T rs41286300
NM_007299.4(BRCA1):c.788-1380G>A rs4986852
NM_007299.4(BRCA1):c.788-751G>T rs28897686
NM_007299.4(BRCA1):c.804G>A (p.Gly268=) rs147448807
NM_007299.4(BRCA1):c.999T>C (p.Ser333=) rs1060915
NM_007300.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296
NM_007300.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007300.4(BRCA1):c.4875A>G (p.Gln1625=) rs28897693

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