ClinVar Miner

List of variants in gene PGAP3 reported as pathogenic for Global developmental delay; Seizures; Low-set ears; Agenesis of maxillary lateral incisor; Congenital diaphragmatic hernia; Low posterior hairline; Infantile axial hypotonia; Severe global developmental delay; Profound global developmental delay; Cleft palate

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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NM_033419.5(PGAP3):c.851A>G (p.His284Arg) rs776720232

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