ClinVar Miner

List of variants reported as pathogenic for AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome by Institute of Human Genetics,Klinikum rechts der Isar

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_001029882.3(AHDC1):c.1519A>T (p.Lys507Ter) rs1553159383
NM_001371928.1(AHDC1):c.3623G>A (p.Trp1208Ter) rs1571229515

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