List of variants reported as pathogenic for Deficiency of steroid 17-alpha-monooxygenase by Fulgent Genetics, Fulgent Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp)	rs104894138	0.00006
NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg)	rs367833709	0.00002
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His)	rs61754278	0.00001
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro)	rs104894135	0.00001
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del)	rs756135168
NM_000102.4(CYP17A1):c.985_987delinsAA (p.Tyr329fs)	rs1844105842

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