ClinVar Miner

List of variants reported as likely pathogenic by Division of Human Genetics,Medical University Innsbruck

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Total variants: 8
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HGVS dbSNP
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000500.9(CYP21A2):c.1450dup (p.Arg484fs) rs779791105
NM_000500.9(CYP21A2):c.559T>G (p.Leu187Val) rs1582305275
NM_000500.9(CYP21A2):c.754G>A (p.Gly252Ser) rs182942340
NM_000500.9(CYP21A2):c.782T>C (p.Met261Thr) rs1582307951
NM_000500.9(CYP21A2):c.782T>G (p.Met261Arg) rs1582307951
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459

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