ClinVar Miner

List of variants studied for Deficiency of steroid 17-alpha-monooxygenase by Clinical Biochemistry Laboratory, Health Services Laboratory

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr) rs766043032 0.00001
NM_000102.4(CYP17A1):c.287G>A (p.Arg96Gln) rs104894153 0.00001

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