ClinVar Miner

List of variants studied for AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome by Equipe Genetique des Anomalies du Developpement,Université de Bourgogne

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
NM_001029882.3(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001029882.3(AHDC1):c.932del (p.Gly311fs) rs1553159764

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.