ClinVar Miner

List of variants studied for Deficiency of steroid 17-alpha-monooxygenase by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys) rs61754263 0.00114
NM_000102.4(CYP17A1):c.580G>T (p.Glu194Ter) rs1173000590 0.00003
NM_000102.4(CYP17A1):c.1084C>T (p.Arg362Cys) rs104894142 0.00001

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