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

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000294.3(PHKG2):c.433C>T (p.His145Tyr)	rs137853591	0.00001
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter)	rs137853590
NM_000294.3(PHKG2):c.265dup (p.His89fs)
NM_000294.3(PHKG2):c.277del (p.Leu93fs)	rs1596680941
NM_000294.3(PHKG2):c.317T>A (p.Val106Glu)	rs137853589
NM_000294.3(PHKG2):c.566G>A (p.Gly189Glu)	rs137853588
NM_000294.3(PHKG2):c.677T>G (p.Leu226Arg)	rs137853592

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