ClinVar Miner

List of variants studied 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

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Total variants: 3
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HGVS dbSNP
NM_001242897.2(DEPDC5):c.2551G>A (p.Gly851Ser) rs1569084151
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) rs200532919
NM_033419.5(PGAP3):c.851A>G (p.His284Arg) rs776720232

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