ClinVar Miner

List of variants studied for adrenocortical insufficiency by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251 0.00055
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_000497.4(CYP11B1):c.1012C>T (p.Gln338Ter) rs1214983921 0.00001
NM_000198.4(HSD3B2):c.611C>A (p.Ala204Asp) rs758811639
NM_000475.5(NR0B1):c.1082T>G (p.Ile361Ser) rs2519050857

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.