ClinVar Miner

List of variants studied for Glycogen storage disorder due to hepatic glycogen synthase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773 0.00404
NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter) rs146195866 0.00010
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.1128C>T (p.Asn376=) rs139043251 0.00004
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter) rs150382575

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