ClinVar Miner

List of variants reported as likely pathogenic for Cushing syndrome due to macronodular adrenal hyperplasia by Department of Hematologic Diagnostics and Genetics, Jagiellonian University Hospital in Krakow

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001105247.2(ARMC5):c.1724_1753delinsAT (p.Cys575fs) rs2142575218

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.