ClinVar Miner

List of variants studied for Glycogen storage disease due to hepatic glycogen synthase deficiency by Invitae

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Total variants: 40
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HGVS dbSNP
NM_021957.4(GYS2):c.1062+1G>T rs781511110
NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter) rs146195866
NM_021957.4(GYS2):c.122-8_141del rs746120293
NM_021957.4(GYS2):c.1229+1G>A rs764539267
NM_021957.4(GYS2):c.1230-14dup rs0
NM_021957.4(GYS2):c.1245C>G (p.Asp415Glu) rs16924002
NM_021957.4(GYS2):c.1334C>T (p.Thr445Met) rs0
NM_021957.4(GYS2):c.1389T>C (p.Ile463=) rs146434233
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln) rs121918420
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.1638T>A (p.Thr546=) rs0
NM_021957.4(GYS2):c.1672C>T (p.Arg558Cys) rs148617918
NM_021957.4(GYS2):c.1745G>A (p.Arg582Lys) rs369069984
NM_021957.4(GYS2):c.1767T>C (p.Thr589=) rs147417298
NM_021957.4(GYS2):c.1774C>G (p.Leu592Val) rs202136674
NM_021957.4(GYS2):c.1829A>G (p.His610Arg) rs0
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.1906T>C (p.Tyr636His) rs143798221
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.427C>T (p.Pro143Ser) rs0
NM_021957.4(GYS2):c.465del (p.Phe155fs) rs0
NM_021957.4(GYS2):c.495+1G>T rs372079212
NM_021957.4(GYS2):c.50A>G (p.Gln17Arg) rs376935348
NM_021957.4(GYS2):c.526G>A (p.Val176Ile) rs752277622
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) rs201157731
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.627T>A (p.Leu209=) rs767838400
NM_021957.4(GYS2):c.653T>C (p.Ile218Thr) rs0
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419
NM_021957.4(GYS2):c.750T>C (p.His250=) rs200713752
NM_021957.4(GYS2):c.925C>T (p.Arg309Ter) rs267603422
NM_021957.4(GYS2):c.941+1G>C rs587776831

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