ClinVar Miner

List of variants studied for AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome by New York Genome Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001371928.1(AHDC1):c.4145C>T (p.Pro1382Leu) rs747832311 0.00003
NM_001371928.1(AHDC1):c.1405C>T (p.Arg469Trp) rs1309806240 0.00001
NM_001371928.1(AHDC1):c.3778T>C (p.Tyr1260His) rs774547651 0.00001
NM_001371928.1(AHDC1):c.3518T>A (p.Phe1173Tyr) rs2148267606

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