List of variants reported as likely pathogenic for adrenal cortex disorder by Fulgent Genetics, Fulgent Genetics

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

Total variants: 33

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000349.3(STAR):c.815G>A (p.Arg272His)	rs540090187	0.00010
NM_004366.6(CLCN2):c.898+1G>A	rs141074059	0.00009
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu)	rs193922538	0.00008
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val)	rs770199817	0.00007
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg)	rs762479018	0.00004
NM_000349.3(STAR):c.661G>A (p.Gly221Ser)	rs139081695	0.00004
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp)	rs61752786	0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)	rs104894068	0.00004
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)	rs72552758	0.00004
NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter)	rs879802265	0.00003
NM_000349.3(STAR):c.824T>C (p.Leu275Pro)	rs762245736	0.00003
NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val)	rs375892072	0.00003
NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter)	rs770582052	0.00003
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)	rs201330912	0.00002
NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile)	rs61754262	0.00001
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu)	rs28934880	0.00001
NM_000349.3(STAR):c.559G>A (p.Val187Met)	rs104894089	0.00001
NM_000349.3(STAR):c.779T>C (p.Leu260Pro)	rs551783234	0.00001
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln)	rs764598023	0.00001
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)	rs104894069	0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp)	rs779103938	0.00001
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys)	rs72557954	0.00001
NM_000102.4(CYP17A1):c.1A>G (p.Met1Val)	rs1590204913
NM_000102.4(CYP17A1):c.869del (p.Asn290fs)	rs766331452
NM_000349.3(STAR):c.178+1G>C	rs1554503011
NM_000349.3(STAR):c.811del (p.Leu271fs)	rs1350908961
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs)	rs2130266157
NM_000497.4(CYP11B1):c.1398+4A>G	rs1586557065
NM_000497.4(CYP11B1):c.726del (p.Ser243fs)	rs1327055239
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)	rs28934573
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)	rs55832599
NM_001395413.1(POR):c.1320dup (p.Ile441fs)	rs786205875
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs)	rs756385625

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.