ClinVar Miner

List of variants reported as likely pathogenic for adrenal gland disease by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_000383.3(AIRE):c.1163_1164insA (p.Met388Ilefs) rs386833672
NM_000383.3(AIRE):c.1638A>T (p.Ter546Cys) rs386833673
NM_000383.3(AIRE):c.932G>A (p.Cys311Tyr) rs386833674
NM_000383.3(AIRE):c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs) rs386833675

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.