ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 1A by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615 0.00020
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001

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