List of variants reported as pathogenic for 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000102.4(CYP17A1):c.1024C>A (p.Pro342Thr)	rs104894137
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)	rs104894149
NM_000102.4(CYP17A1):c.1313del (p.Gly438fs)	rs2134081192
NM_000102.4(CYP17A1):c.1358T>C (p.Phe453Ser)	rs104894151
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del)	rs121434319
NM_000102.4(CYP17A1):c.206_230del (p.Gly69fs)	rs786205062
NM_000102.4(CYP17A1):c.347A>T (p.Asp116Val)	rs104894148
NM_000102.4(CYP17A1):c.437-2A>C	rs1395913655
NM_000102.4(CYP17A1):c.601T>A (p.Tyr201Asn)	rs104894150
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter)	rs104894136

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