ClinVar Miner

List of variants in gene AHDC1 reported as not provided 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: 5
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HGVS dbSNP gnomAD frequency
NM_001371928.1(AHDC1):c.1167del (p.Arg389fs) rs1553159581
NM_001371928.1(AHDC1):c.1169del (p.Pro390fs) rs1553159575
NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs) rs587779766
NM_001371928.1(AHDC1):c.2773C>T (p.Arg925Ter) rs777736953
NM_001371928.1(AHDC1):c.2908C>T (p.Gln970Ter) rs886041781

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