ClinVar Miner

List of variants reported as likely pathogenic for Hereditary breast ovarian cancer syndrome by Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498 0.00003
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_007294.4(BRCA1):c.212+3A>G rs80358083 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935

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