ClinVar Miner

List of variants reported as pathogenic for Familial cancer of breast by Research and Experiment Center, Meizhou People's Hospital

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter) rs80358429
NM_000059.4(BRCA2):c.6916_6917insA (p.Ala2306fs)
NM_000059.4(BRCA2):c.8890dup (p.Arg2964fs) rs397508017
NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter) rs886038001
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580

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