ClinVar Miner

List of variants in gene CYP11A1 reported as pathogenic for adrenal gland disease

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
CYP11A1, 1-BP DEL, 835A
CYP11A1, 1-BP INS, IVS3, T
CYP11A1, 6-BP INS
NM_000781.2(CYP11A1):c.1057C>T (p.Arg353Trp) rs72547508
NM_000781.2(CYP11A1):c.1076C>T (p.Ala359Val) rs121912812
NM_000781.2(CYP11A1):c.1244T>A (p.Val415Glu) rs121912814
NM_000781.2(CYP11A1):c.422T>G (p.Leu141Trp) rs121912813
NM_000781.2(CYP11A1):c.566C>T (p.Ala189Val) rs121912811
NM_000781.2(CYP11A1):c.665T>C (p.Leu222Pro) rs387906601

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.