ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 1A by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 2

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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.397C>G (p.Arg133Gly)	rs387906830

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