List of variants reported as pathogenic for glycogen storage disorder due to hepatic glycogen synthase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter)	rs146195866	0.00010
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)	rs121918420	0.00009
NM_021957.4(GYS2):c.495+1G>T	rs372079212	0.00009
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter)	rs121918419	0.00009
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter)	rs201157731	0.00005
NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro)	rs121918421	0.00004
NM_021957.4(GYS2):c.457del (p.Met152_Leu153insTer)	rs1307281520	0.00001
NM_021957.4(GYS2):c.925C>T (p.Arg309Ter)	rs267603422	0.00001
NC_000012.11:g.(?_21689888)_(21711267_?)del
NC_000012.11:g.(?_21733256)_(21757526_?)del
NM_021957.4(GYS2):c.1413_1416del (p.Asp471fs)
NM_021957.4(GYS2):c.376_377del (p.Asn126fs)
NM_021957.4(GYS2):c.465del (p.Phe155fs)	rs763929651
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter)	rs150382575
NM_021957.4(GYS2):c.941+1G>C	rs587776831

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