ClinVar Miner

List of variants in gene GYS2 reported as likely benign for Glycogen storage disease due to hepatic glycogen synthase deficiency

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Total variants: 16
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NM_021957.4(GYS2):c.*437dup rs60154469
NM_021957.4(GYS2):c.-219T>G rs184607089
NM_021957.4(GYS2):c.1063-15C>G rs150691568
NM_021957.4(GYS2):c.1128C>T (p.Asn376=) rs139043251
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala) rs150433001
NM_021957.4(GYS2):c.1645+7G>T rs199505368
NM_021957.4(GYS2):c.1767T>C (p.Thr589=) rs147417298
NM_021957.4(GYS2):c.1866T>C (p.His622=)
NM_021957.4(GYS2):c.1889C>T (p.Thr630Met) rs140646346
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773
NM_021957.4(GYS2):c.2072C>T (p.Pro691Leu) rs144564037
NM_021957.4(GYS2):c.421G>A (p.Gly141Ser) rs149533049
NM_021957.4(GYS2):c.526G>A (p.Val176Ile) rs752277622
NM_021957.4(GYS2):c.60C>T (p.Val20=)
NM_021957.4(GYS2):c.615C>T (p.His205=) rs569279347
NM_021957.4(GYS2):c.750T>C (p.His250=) rs200713752

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