ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter) rs772263867
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys) rs387906830
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003384.3(VRK1):c.879_882AAAC[1] (p.Lys295fs) rs779282547

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