ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 9
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HGVS dbSNP
NM_001029882.2:c.997delG
NM_001029882.3(AHDC1):c.1519A>T (p.Lys507Ter) rs1553159383
NM_001029882.3(AHDC1):c.2229delG (p.Ser744Profs) rs886039900
NM_001029882.3(AHDC1):c.2373_2374del (p.Cys791Trpfs) rs587779766
NM_001029882.3(AHDC1):c.2547del (p.Ser850Profs) rs587779768
NM_001029882.3(AHDC1):c.2898del (p.Tyr967Thrfs) rs587779767
NM_001029882.3(AHDC1):c.3497C>G (p.Ser1166Ter) rs1553158393
NM_001029882.3(AHDC1):c.3814C>T (p.Arg1272Ter) rs1135401761
NM_001029882.3(AHDC1):c.550delG (p.Ala184Profs) rs1553159979

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