ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 1A by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038

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