List of variants in gene CYP17A1 reported as pathogenic for Deficiency of steroid 17-alpha-monooxygenase

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 42

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp)	rs104894138	0.00006
NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln)	rs104894154	0.00003
NM_000102.4(CYP17A1):c.580G>T (p.Glu194Ter)	rs1173000590	0.00003
NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg)	rs367833709	0.00002
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His)	rs104894155	0.00002
NM_000102.4(CYP17A1):c.297+2T>C	rs764723654	0.00002
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)	rs104894149	0.00001
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His)	rs61754278	0.00001
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.1085G>A (p.Arg362His)	rs752811843	0.00001
NM_000102.4(CYP17A1):c.1118A>T (p.His373Leu)	rs760695410	0.00001
NM_000102.4(CYP17A1):c.1216T>C (p.Trp406Arg)	rs104894143	0.00001
NM_000102.4(CYP17A1):c.1306G>A (p.Gly436Arg)	rs757083287	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.316T>C (p.Ser106Pro)	rs104894135	0.00001
NM_000102.4(CYP17A1):c.1050CCT[1] (p.Leu353del)	rs1590203064
NM_000102.4(CYP17A1):c.1072C>T (p.Arg358Ter)	rs2134082367
NM_000102.4(CYP17A1):c.1117C>A (p.His373Asn)	rs1423560123
NM_000102.4(CYP17A1):c.1117C>G (p.His373Asp)	rs1423560123
NM_000102.4(CYP17A1):c.1162A>T (p.Lys388Ter)	rs1060499582
NM_000102.4(CYP17A1):c.1246C>T (p.Arg416Cys)	rs1178684770
NM_000102.4(CYP17A1):c.1283C>T (p.Pro428Leu)	rs104894145
NM_000102.4(CYP17A1):c.1318C>T (p.Arg440Cys)	rs868228603
NM_000102.4(CYP17A1):c.1381C>T (p.Gln461Ter)	rs2493234210
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)	rs556794126
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.177dup (p.Tyr60fs)	rs1402132413
NM_000102.4(CYP17A1):c.327dup (p.Lys110Ter)	rs2493243250
NM_000102.4(CYP17A1):c.350_351del (p.Ser117fs)	rs1360362529
NM_000102.4(CYP17A1):c.362G>A (p.Trp121Ter)	rs942376359
NM_000102.4(CYP17A1):c.438_439del (p.Ile146fs)	rs2493242253
NM_000102.4(CYP17A1):c.667-16_680del	rs2493240521
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter)	rs104894136
NM_000102.4(CYP17A1):c.753+1G>A	rs1844126291
NM_000102.4(CYP17A1):c.938G>A (p.Trp313Ter)	rs2493238663
NM_000102.4(CYP17A1):c.973AAG[2] (p.Lys327del)	rs774737304
NM_000102.4(CYP17A1):c.985_987delinsAA (p.Tyr329fs)	rs1844105842
NM_000102.4(CYP17A1):c.987C>G (p.Tyr329Ter)	rs374769118
NM_000102.4(CYP17A1):c.987del (p.Leu328_Tyr329insTer)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.