ClinVar Miner

List of variants reported as likely pathogenic for Pontocerebellar hypoplasia type 1A

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Total variants: 3
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HGVS dbSNP
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter) rs1566713184

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