ClinVar Miner

List of variants reported as pathogenic for Glycogen storage disease IXc

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Total variants: 13
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NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter) rs137853590
NM_000294.3(PHKG2):c.250del (p.Val84fs) rs1567260747
NM_000294.3(PHKG2):c.277del (p.Leu93fs)
NM_000294.3(PHKG2):c.316_317GT[1] (p.Val106_Phe107insTer) rs1555467052
NM_000294.3(PHKG2):c.317T>A (p.Val106Glu) rs137853589
NM_000294.3(PHKG2):c.433C>T (p.His145Tyr) rs137853591
NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter) rs1270523244
NM_000294.3(PHKG2):c.566G>A (p.Gly189Glu) rs137853588
NM_000294.3(PHKG2):c.657del (p.Cys219fs)
NM_000294.3(PHKG2):c.671_672delinsAA (p.Phe224Ter) rs1555467557
NM_000294.3(PHKG2):c.677T>G (p.Leu226Arg) rs137853592
NM_000294.3(PHKG2):c.783del (p.Ser262fs)

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