ClinVar Miner

List of variants studied for Glycogen storage disease IXc by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter) rs137853590
NM_000294.3(PHKG2):c.166del (p.Glu56fs)
NM_000294.3(PHKG2):c.348dup (p.Asp117Ter)

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