ClinVar Miner

List of variants reported as likely benign for AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001371928.1(AHDC1):c.2634C>T (p.Ala878=) rs60039430 0.01134
NM_001371928.1(AHDC1):c.811C>G (p.Pro271Ala) rs200660997 0.00281
NM_001371928.1(AHDC1):c.4585C>T (p.Arg1529Cys) rs200178921 0.00032
NM_001371928.1(AHDC1):c.1172A>G (p.Lys391Arg)
NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del) rs530256606
NM_001371928.1(AHDC1):c.3254CCT[8] (p.Ser1091dup) rs530256606
NM_001371928.1(AHDC1):c.337A>T (p.Asn113Tyr) rs1135401946
NM_001371928.1(AHDC1):c.640C>T (p.His214Tyr)

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