ClinVar Miner

List of variants studied for Glycogen storage disease due to hepatic glycogen synthase deficiency by Illumina Clinical Services Laboratory,Illumina

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Total variants: 79
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HGVS dbSNP
NM_021957.4(GYS2):c.*152C>T rs936
NM_021957.4(GYS2):c.*237T>C rs886049154
NM_021957.4(GYS2):c.*259T>A rs140445396
NM_021957.4(GYS2):c.*290G>T rs0
NM_021957.4(GYS2):c.*359C>T rs542459418
NM_021957.4(GYS2):c.*406T>G rs0
NM_021957.4(GYS2):c.*408A>G rs0
NM_021957.4(GYS2):c.*437dup rs60154469
NM_021957.4(GYS2):c.*458A>T rs0
NM_021957.4(GYS2):c.*468T>C rs0
NM_021957.4(GYS2):c.*520A>G rs886049153
NM_021957.4(GYS2):c.*545G>A rs0
NM_021957.4(GYS2):c.*567del rs886049152
NM_021957.4(GYS2):c.*631del rs576845625
NM_021957.4(GYS2):c.*654G>A rs0
NM_021957.4(GYS2):c.*684C>T rs746414953
NM_021957.4(GYS2):c.*6A>T rs10431213
NM_021957.4(GYS2):c.*735_*738TAAA[1] rs886049151
NM_021957.4(GYS2):c.-109G>A rs0
NM_021957.4(GYS2):c.-219T>G rs184607089
NM_021957.4(GYS2):c.-240A>G rs548363075
NM_021957.4(GYS2):c.1063-15C>G rs150691568
NM_021957.4(GYS2):c.1087A>G (p.Met363Val) rs2306180
NM_021957.4(GYS2):c.1128C>T (p.Asn376=) rs139043251
NM_021957.4(GYS2):c.1129G>A (p.Val377Met) rs0
NM_021957.4(GYS2):c.1169+12A>T rs4639981
NM_021957.4(GYS2):c.1170-4A>G rs886049157
NM_021957.4(GYS2):c.1171G>T (p.Asp391Tyr) rs0
NM_021957.4(GYS2):c.1229+11G>A rs1871137
NM_021957.4(GYS2):c.1230-5T>G rs777032042
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.1362C>T (p.Asp454=) rs0
NM_021957.4(GYS2):c.1389T>C (p.Ile463=) rs146434233
NM_021957.4(GYS2):c.1418T>G (p.Val473Gly) rs886049156
NM_021957.4(GYS2):c.1423-1G>A rs202043849
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.1472T>G (p.Met491Arg) rs121918422
NM_021957.4(GYS2):c.1549G>C (p.Ala517Pro) rs199936257
NM_021957.4(GYS2):c.154G>A (p.Ala52Thr) rs886049162
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.1713C>T (p.Leu571=) rs139122418
NM_021957.4(GYS2):c.1767T>C (p.Thr589=) rs147417298
NM_021957.4(GYS2):c.1790A>G (p.Asp597Gly) rs767441371
NM_021957.4(GYS2):c.1810-3T>C rs0
NM_021957.4(GYS2):c.1820A>G (p.His607Arg) rs886049155
NM_021957.4(GYS2):c.1872A>G (p.Glu624=) rs142883971
NM_021957.4(GYS2):c.1880C>T (p.Ser627Leu) rs182582633
NM_021957.4(GYS2):c.1889C>T (p.Thr630Met) rs140646346
NM_021957.4(GYS2):c.1890+12A>G rs192853475
NM_021957.4(GYS2):c.1965G>C (p.Gln655His) rs117639846
NM_021957.4(GYS2):c.1974dup (p.Val659fs) rs1181756742
NM_021957.4(GYS2):c.2004C>T (p.Tyr668=) rs571493564
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.2055T>C (p.Phe685=) rs201063818
NM_021957.4(GYS2):c.2067C>T (p.His689=) rs7954038
NM_021957.4(GYS2):c.215A>G (p.His72Arg) rs0
NM_021957.4(GYS2):c.279C>T (p.Asp93=) rs779704436
NM_021957.4(GYS2):c.280G>A (p.Ala94Thr) rs34225615
NM_021957.4(GYS2):c.289A>G (p.Lys97Glu) rs886049161
NM_021957.4(GYS2):c.421G>A (p.Gly141Ser) rs149533049
NM_021957.4(GYS2):c.525C>T (p.Val175=) rs77486019
NM_021957.4(GYS2):c.534A>G (p.Gln178=) rs750100480
NM_021957.4(GYS2):c.577G>A (p.Ala193Thr) rs16924038
NM_021957.4(GYS2):c.612C>A (p.Thr204=) rs758427436
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.630G>A (p.Gly210=) rs201503558
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419
NM_021957.4(GYS2):c.755C>G (p.Ala252Gly) rs886049160
NM_021957.4(GYS2):c.756T>C (p.Ala252=) rs886049159
NM_021957.4(GYS2):c.799G>A (p.Glu267Lys) rs0
NM_021957.4(GYS2):c.942-12G>A rs367916210
NM_021957.4(GYS2):c.942-6T>C rs886049158
NM_021957.4(GYS2):c.942-7del rs537907545
NM_021957.4(GYS2):c.948C>T (p.Leu316=) rs374841625

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