ClinVar Miner

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

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Total variants: 4
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NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys) rs1064794609
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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