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

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Total variants: 8

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HGVS	dbSNP
NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter)	rs146195866
NM_021957.4(GYS2):c.122-8_141del	rs746120293
NM_021957.4(GYS2):c.465del (p.Phe155fs)	rs0
NM_021957.4(GYS2):c.495+1G>T	rs372079212
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter)	rs201157731
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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