ClinVar Miner

List of variants studied for Deficiency of steroid 17-alpha-monooxygenase by Revvity Omics, Revvity

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000102.4(CYP17A1):c.716G>A (p.Arg239Gln) rs773278607 0.00005
NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg) rs367833709 0.00002
NM_000102.4(CYP17A1):c.350C>G (p.Ser117Cys) rs2493243189

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