ClinVar Miner

List of variants studied for adrenocortical insufficiency by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val) rs770199817 0.00007
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter) rs121918548 0.00007
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_000529.2(MC2R):c.459dup (p.Ile154fs) rs1555619430
NM_182977.3(NNT):c.98dup (p.Leu33fs) rs1579966821

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.