List of variants in gene CYP17A1 studied for Congenital adrenal hyperplasia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys)	rs61754263	0.00116
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp)	rs104894138	0.00006
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln)	rs104894139	0.00001
NM_000102.4(CYP17A1):c.1084C>T (p.Arg362Cys)	rs104894142	0.00001
NM_000102.4(CYP17A1):c.1319G>A (p.Arg440His)	rs777638364	0.00001
NM_000102.4(CYP17A1):c.287G>A (p.Arg96Gln)	rs104894153	0.00001
NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile)	rs61754262	0.00001
NM_000102.4(CYP17A1):c.*165dup	rs45455494
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)	rs104894149
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)	rs556794126
NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup)	rs1844148108
NM_000102.4(CYP17A1):c.667-13_667-10del	rs1844127277

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