ClinVar Miner

List of variants in gene BRCA1 reported as likely pathogenic by Breast Center, Key Laboratory of Carcinogenesis and Translational Research

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.5062G>T (p.Val1688Phe) rs2052159968
NM_007294.4(BRCA1):c.5140G>T (p.Val1714Phe) rs1567769244
NM_007294.4(BRCA1):c.5162A>C (p.Gln1721Pro) rs2051867806
NM_007294.4(BRCA1):c.5278-2A>C rs397509253
NM_007294.4(BRCA1):c.5282T>G (p.Phe1761Cys) rs80356905
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys) rs80356929
NM_007294.4(BRCA1):c.80G>A (p.Cys27Tyr) rs1064793052

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