ClinVar Miner

List of variants studied for Glycogen storage disease type IXc by Centogene AG - the Rare Disease Company

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter) rs1270523244 0.00001
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter) rs772912966

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