ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease IXc by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys) rs2053339231
NM_000294.3(PHKG2):c.698T>C (p.Phe233Ser)
NM_000294.3(PHKG2):c.800T>G (p.Leu267Arg)
NM_000294.3(PHKG2):c.836G>A (p.Arg279His) rs2151310526

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