ClinVar Miner

List of variants studied for AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome by GenomeConnect, ClinGen

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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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

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