ClinVar Miner

List of variants in gene AHDC1 studied for AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NC_000001.11:g.27551172dup
NM_001029882.3(AHDC1):c.1167del (p.Arg389fs) rs1553159581
NM_001029882.3(AHDC1):c.1169del (p.Pro390fs) rs1553159575
NM_001029882.3(AHDC1):c.1519A>T (p.Lys507Ter) rs1553159383
NM_001029882.3(AHDC1):c.2032C>T (p.Arg678Trp) rs1557663705
NM_001029882.3(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001029882.3(AHDC1):c.2229del (p.Ser744fs) rs886039900
NM_001029882.3(AHDC1):c.2371_2372TG[1] (p.Cys791fs) rs587779766
NM_001029882.3(AHDC1):c.2547del (p.Ser850fs) rs587779768
NM_001029882.3(AHDC1):c.2898del (p.Tyr967fs) rs587779767
NM_001029882.3(AHDC1):c.2948dup (p.Thr984fs)
NM_001029882.3(AHDC1):c.3168_3169del rs1553158517
NM_001029882.3(AHDC1):c.337A>T (p.Asn113Tyr) rs1135401946
NM_001029882.3(AHDC1):c.3497C>G (p.Ser1166Ter) rs1553158393
NM_001029882.3(AHDC1):c.3692C>T (p.Pro1231Leu) rs559597076
NM_001029882.3(AHDC1):c.3814C>T (p.Arg1272Ter) rs1135401761
NM_001029882.3(AHDC1):c.4370A>G (p.Asp1457Gly) rs1557655967
NM_001029882.3(AHDC1):c.550delG rs1553159979
NM_001029882.3(AHDC1):c.932del (p.Gly311fs) rs1553159764
NM_001029882.3(AHDC1):c.997del (p.Ala333fs) rs1557667078

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.