ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 1A by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398

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