ClinVar Miner

List of variants in gene GYS2 reported as pathogenic for Glycogen storage disease due to hepatic glycogen synthase deficiency

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Total variants: 15
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NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro) rs121918421
NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter) rs146195866
NM_021957.4(GYS2):c.116A>G (p.Asn39Ser) rs121918423
NM_021957.4(GYS2):c.122-8_141del rs746120293
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.465del (p.Phe155fs)
NM_021957.4(GYS2):c.495+1G>T rs372079212
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) rs201157731
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter) rs150382575
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419
NM_021957.4(GYS2):c.925C>T (p.Arg309Ter) rs267603422
NM_021957.4(GYS2):c.941+1G>C rs587776831

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