ClinVar Miner

List of variants reported as pathogenic for Glycogen storage disease IXc by Mendelics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter)	rs375063162	0.00001
NM_000294.3(PHKG2):c.657del (p.Cys219fs)	rs1596687555
NM_000294.3(PHKG2):c.927+1G>A	rs1445993948

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