ClinVar Miner

List of variants reported as pathogenic for Deficiency of steroid 17-alpha-monooxygenase by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His)	rs61754278	0.00001
NM_000102.4(CYP17A1):c.1117C>A (p.His373Asn)	rs1423560123

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