ClinVar Miner

List of variants reported as likely pathogenic 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: 5
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NM_001029882.3(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001029882.3(AHDC1):c.3168_3169del rs1553158517
NM_001029882.3(AHDC1):c.4370A>G (p.Asp1457Gly) rs1557655967
NM_001029882.3(AHDC1):c.932del (p.Gly311fs) rs1553159764
NM_001371928.1(AHDC1):c.994C>T (p.Gln332Ter) rs1571242220

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