ClinVar Miner

List of variants reported as likely 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: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001371928.1(AHDC1):c.1080_1111del (p.Glu361fs)
NM_001371928.1(AHDC1):c.1140del (p.Lys381fs)
NM_001371928.1(AHDC1):c.1433del (p.Met478fs) rs2019490062
NM_001371928.1(AHDC1):c.1757_1758del (p.Lys586fs) rs1064797043
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001371928.1(AHDC1):c.2520dup (p.Arg841fs)
NM_001371928.1(AHDC1):c.2772del (p.Arg925fs) rs2019386507
NM_001371928.1(AHDC1):c.3025C>G (p.Pro1009Ala)
NM_001371928.1(AHDC1):c.3168_3169del (p.Cys1056_Asp1057delinsTer) rs1553158517
NM_001371928.1(AHDC1):c.3898C>T (p.Gln1300Ter) rs2148263628
NM_001371928.1(AHDC1):c.4370A>G (p.Asp1457Gly) rs1557655967
NM_001371928.1(AHDC1):c.519_520delinsC (p.Leu173fs)
NM_001371928.1(AHDC1):c.932del (p.Gly311fs) rs1553159764
NM_001371928.1(AHDC1):c.994C>T (p.Gln332Ter) rs1571242220

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.