ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro) rs80357474 0.00001
NM_007294.4(BRCA1):c.132C>T (p.Cys44=) rs876658362
NM_007294.4(BRCA1):c.139T>C (p.Cys47Arg) rs80357370
NM_007294.4(BRCA1):c.5511G>C (p.Trp1837Cys) rs80356914
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn) rs80357368

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