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: 3
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NM_001029882.3(AHDC1):c.2032C>T (p.Arg678Trp)
NM_001029882.3(AHDC1):c.337A>T (p.Asn113Tyr) rs1135401946
NM_001029882.3(AHDC1):c.3692C>T (p.Pro1231Leu) rs559597076

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