ClinVar Miner

List of variants studied for Glycogen storage disease IXc by OMIM

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Total variants: 7
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HGVS dbSNP
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter) rs137853590
NM_000294.3(PHKG2):c.277del (p.Leu93fs)
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.566G>A (p.Gly189Glu) rs137853588
NM_000294.3(PHKG2):c.677T>G (p.Leu226Arg) rs137853592
PHKG2, 1-BP INS

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