ClinVar Miner

List of variants reported as pathogenic for Familial cancer of breast; Ovarian cancer by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.68833290_68833501del
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.144_151dup (p.Val51fs) rs2543817212
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter) rs121964874
NM_004360.5(CDH1):c.2166_2295del (p.Ile722fs)

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