ClinVar Miner

List of variants reported as pathogenic for AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_001029882.3(AHDC1):c.1519A>T (p.Lys507Ter) rs1553159383
NM_001029882.3(AHDC1):c.2229delG (p.Ser744Profs) rs886039900
NM_001029882.3(AHDC1):c.2373_2374del (p.Cys791Trpfs) rs587779766
NM_001029882.3(AHDC1):c.2547del (p.Ser850Profs) rs587779768
NM_001029882.3(AHDC1):c.2898del (p.Tyr967Thrfs) rs587779767
NM_001029882.3(AHDC1):c.3497C>G (p.Ser1166Ter) rs1553158393
NM_001029882.3(AHDC1):c.3814C>T (p.Arg1272Ter) rs1135401761
NM_001029882.3(AHDC1):c.550delG (p.Ala184Profs) rs1553159979

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.