ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic by Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University

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Total variants: 20
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HGVS dbSNP
NM_007294.3(BRCA1):c.1299dup (p.Ser434fs) rs886037786
NM_007294.3(BRCA1):c.2059C>T (p.Gln687Ter) rs273898674
NM_007294.3(BRCA1):c.213-1G>A rs80358146
NM_007294.3(BRCA1):c.213-2A>G rs397508940
NM_007294.3(BRCA1):c.2556_2557insTTCACTTTTC (p.Asp853fs) rs397508979
NM_007294.3(BRCA1):c.2570T>A (p.Leu857Ter) rs886037787
NM_007294.3(BRCA1):c.2572C>T (p.Gln858Ter) rs397508983
NM_007294.3(BRCA1):c.3819_3823del (p.Gln1273fs) rs886037785
NM_007294.3(BRCA1):c.4069_4070insTTGA (p.Glu1357fs) rs886037788
NM_007294.3(BRCA1):c.4677_5075del
NM_007294.3(BRCA1):c.4712del (p.Phe1571fs) rs886037790
NM_007294.3(BRCA1):c.4755del (p.Glu1586fs) rs886037789
NM_007294.3(BRCA1):c.4801A>T (p.Lys1601Ter) rs80357303
NM_007294.3(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.3(BRCA1):c.519del (p.Gln174fs) rs886037784
NM_007294.3(BRCA1):c.5470_5477delATTGGGCA (p.Ile1824Aspfs) rs80357973
NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs) rs80357783
NM_007294.3(BRCA1):c.81_134del (p.Cys27_Lys45delinsTer) rs1555599208
NM_007294.3(BRCA1):c.981_982del (p.Thr327_Cys328insTer) rs80357772

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