ClinVar Miner

List of variants reported as benign for Glycogen storage disease due to hepatic glycogen synthase deficiency by Invitae

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Total variants: 22
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NM_021957.4(GYS2):c.1087A>G (p.Met363Val) rs2306180
NM_021957.4(GYS2):c.1169+12A>T rs4639981
NM_021957.4(GYS2):c.1229+11G>A rs1871137
NM_021957.4(GYS2):c.1245C>G (p.Asp415Glu) rs16924002
NM_021957.4(GYS2):c.1251C>T (p.Asn417=) rs139882761
NM_021957.4(GYS2):c.1389T>C (p.Ile463=) rs146434233
NM_021957.4(GYS2):c.1464A>G (p.Leu488=) rs35403985
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala) rs150433001
NM_021957.4(GYS2):c.1636A>G (p.Thr546Ala) rs61733199
NM_021957.4(GYS2):c.1767T>C (p.Thr589=) rs147417298
NM_021957.4(GYS2):c.1872A>G (p.Glu624=) rs142883971
NM_021957.4(GYS2):c.1889C>T (p.Thr630Met) rs140646346
NM_021957.4(GYS2):c.1965G>C (p.Gln655His) rs117639846
NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn) rs142656537
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773
NM_021957.4(GYS2):c.2067C>T (p.His689=) rs7954038
NM_021957.4(GYS2):c.280G>A (p.Ala94Thr) rs34225615
NM_021957.4(GYS2):c.421G>A (p.Gly141Ser) rs149533049
NM_021957.4(GYS2):c.577G>A (p.Ala193Thr) rs16924038
NM_021957.4(GYS2):c.615C>T (p.His205=) rs569279347
NM_021957.4(GYS2):c.942-17G>A rs8192697

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