ClinVar Miner

List of variants reported as pathogenic for Cushing syndrome by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_000244.3(MEN1):c.1267G>A (p.Asp423Asn) rs104894264
NM_000244.3(MEN1):c.211_212del (p.Pro71fs) rs386134251
NM_000244.3(MEN1):c.518T>C (p.Leu173Pro) rs386134256
NM_000546.5(TP53):c.375G>A (p.Thr125=) rs55863639
NM_000546.5(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708

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.