ClinVar Miner

List of variants in gene AHDC1 reported as uncertain significance 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: 4
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NM_001029882.3(AHDC1):c.2032C>T (p.Arg678Trp) rs1557663705
NM_001029882.3(AHDC1):c.3692C>T (p.Pro1231Leu) rs559597076
NM_001371928.1(AHDC1):c.4679A>T (p.Gln1560Leu) rs1571224398
NM_001371928.1(AHDC1):c.803C>T (p.Ser268Leu) rs751818701

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