ClinVar Miner

List of variants in gene BRCA1 reported by Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency

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Total variants: 54
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HGVS dbSNP
NM_007294.3(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.1392C>T (p.Thr464=) rs533802049
NM_007294.3(BRCA1):c.154C>T (p.Leu52Phe) rs80357084
NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.3(BRCA1):c.2177T>C (p.Leu726Pro) rs1135401827
NM_007294.3(BRCA1):c.2475del (p.Asp825fs) rs80357970
NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.3(BRCA1):c.3416G>T (p.Ser1139Ile) rs80357228
NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.3(BRCA1):c.3695_3699GTAAA[1] (p.Val1234fs) rs80357609
NM_007294.3(BRCA1):c.36A>G (p.Gln12=) rs763230080
NM_007294.3(BRCA1):c.3758C>G (p.Ser1253Cys) rs397509100
NM_007294.3(BRCA1):c.396C>A (p.Asn132Lys) rs80357413
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.426C>T (p.Pro142=) rs542687218
NM_007294.3(BRCA1):c.4441G>A (p.Ala1481Thr) rs1135401828
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.3(BRCA1):c.4860T>C (p.Thr1620=) rs750938749
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.3(BRCA1):c.511A>G (p.Ile171Val) rs777515082
NM_007294.3(BRCA1):c.5129del (p.Gly1710fs) rs1135401829
NM_007294.3(BRCA1):c.5152+15A>G rs750905289
NM_007294.3(BRCA1):c.5332+13G>T rs372391060
NM_007294.3(BRCA1):c.5347A>C (p.Met1783Leu) rs80357012
NM_007294.3(BRCA1):c.5406+8T>C rs55946644
NM_007294.3(BRCA1):c.5541C>A (p.Cys1847Ter) rs397509295
NM_007294.3(BRCA1):c.594-2A>C rs80358033
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914
NM_007294.3(BRCA1):c.795T>C (p.Ser265=) rs201441987
NM_007294.3(BRCA1):c.81-6T>C rs80358179
NM_007294.3(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007294.3(BRCA1):c.886A>G (p.Arg296Gly) rs748675395
NM_007294.3(BRCA1):c.889A>C (p.Met297Leu) rs80357196
NM_007294.3(BRCA1):c.954T>A (p.His318Gln) rs1135401826
NM_007297.4(BRCA1):c.-8+8224C>T rs80358006
NM_007299.4(BRCA1):c.114G>A (p.Lys38=) rs1800062
NM_007299.4(BRCA1):c.1172+14A>G rs80358022
NM_007299.4(BRCA1):c.1223G>T (p.Ser408Ile) rs1800744
NM_007299.4(BRCA1):c.1644G>A (p.Met548Ile) rs1799967
NM_007299.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007299.4(BRCA1):c.75C>T (p.Pro25=) rs80356839
NM_007299.4(BRCA1):c.787+1295C>T rs1799949
NM_007299.4(BRCA1):c.787+1524T>C rs16940
NM_007299.4(BRCA1):c.787+1779T>C rs80356892
NM_007299.4(BRCA1):c.788-1380G>A rs4986852
NM_007299.4(BRCA1):c.999T>C (p.Ser333=) rs1060915
NM_007300.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007300.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740
NM_007300.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007300.4(BRCA1):c.5373G>A (p.Gly1791=) rs273901761
NM_007300.4(BRCA1):c.981A>G (p.Thr327=) rs1800063

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