ClinVar Miner

List of variants reported as benign for Glycogen storage disorder due to hepatic glycogen synthase deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_021957.4(GYS2):c.2067C>T (p.His689=) rs7954038 0.02548
NM_021957.4(GYS2):c.1464A>G (p.Leu488=) rs35403985 0.02543
NM_021957.4(GYS2):c.1245C>G (p.Asp415Glu) rs16924002 0.02117
NM_021957.4(GYS2):c.1636A>G (p.Thr546Ala) rs61733199 0.01511
NM_021957.4(GYS2):c.1872A>G (p.Glu624=) rs142883971 0.00562

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