ClinVar Miner

List of variants reported as pathogenic for Glycogen storage disease due to hepatic glycogen synthase deficiency by OMIM

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Total variants: 8
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NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro) rs121918421
NM_021957.4(GYS2):c.116A>G (p.Asn39Ser) rs121918423
NM_021957.4(GYS2):c.1336C>G (p.His446Asp) rs121918425
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln) rs121918420
NM_021957.4(GYS2):c.1447T>C (p.Ser483Pro) rs121918424
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg) rs121918422
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419
NM_021957.4(GYS2):c.941+1G>C rs587776831

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