ClinVar Miner

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

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375 0.00006
NM_002103.5(GYS1):c.1384C>T (p.Arg462Ter) rs121434584 0.00001
NC_000019.9:g.(?_49477450)_(49478010_?)del
NC_000019.9:g.(?_49484767)_(49486114_?)del
NC_000019.9:g.(?_49485502)_(49486104_?)del
NC_000019.9:g.(?_49494539)_(49494760_?)del
NM_002103.5(GYS1):c.1192_1193insCAAGG (p.Glu398fs)
NM_002103.5(GYS1):c.1204del (p.Arg402fs) rs1568619900
NM_002103.5(GYS1):c.1230-2A>G
NM_002103.5(GYS1):c.1539del (p.Tyr514fs)
NM_002103.5(GYS1):c.1615G>T (p.Glu539Ter) rs561646250
NM_002103.5(GYS1):c.169G>T (p.Glu57Ter)
NM_002103.5(GYS1):c.359del (p.Gly120fs)
NM_002103.5(GYS1):c.405_420del (p.Asp135fs) rs2122525139
NM_002103.5(GYS1):c.546G>A (p.Trp182Ter) rs1225603414
NM_002103.5(GYS1):c.583C>T (p.Arg195Ter)
NM_002103.5(GYS1):c.699_700del (p.Arg236fs) rs1345327745
NM_002103.5(GYS1):c.721C>T (p.Arg241Ter)
NM_002103.5(GYS1):c.7_8del (p.Leu3fs)
NM_002103.5(GYS1):c.907C>T (p.Arg303Ter) rs1269675538
NM_002103.5(GYS1):c.913C>T (p.Gln305Ter) rs2122509752
NM_002103.5(GYS1):c.929del (p.Gly310fs) rs2122509664

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