List of variants reported as pathogenic for congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency by Natera, Inc.

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Total variants: 12

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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.297+2T>C	rs764723654	0.00002
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His)	rs61754278	0.00001
NM_000102.4(CYP17A1):c.1084C>T (p.Arg362Cys)	rs104894142	0.00001
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His)	rs752811843	0.00001
NM_000102.4(CYP17A1):c.1118A>T (p.His373Leu)	rs760695410	0.00001
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro)	rs104894135	0.00001
NM_000102.4(CYP17A1):c.1072C>T (p.Arg358Ter)	rs2134082367
NM_000102.4(CYP17A1):c.1283C>T (p.Pro428Leu)	rs104894145
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del)	rs756135168
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del)	rs121434319
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter)	rs104894136

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