ClinVar Miner

List of variants in gene GYS2 studied for not specified

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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_021957.4(GYS2):c.1169+12A>T rs4639981 0.76485
NM_021957.4(GYS2):c.1229+11G>A rs1871137 0.75356
NM_021957.4(GYS2):c.1087A>G (p.Met363Val) rs2306180 0.74398
NM_021957.4(GYS2):c.1229+40T>C rs1871136 0.74383
NM_021957.4(GYS2):c.*6A>T rs10431213 0.30676
NM_021957.4(GYS2):c.942-17G>A rs8192697 0.18537
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.1965G>C (p.Gln655His) rs117639846 0.02061
NM_021957.4(GYS2):c.1636A>G (p.Thr546Ala) rs61733199 0.01511
NM_021957.4(GYS2):c.1423-21A>G rs73238708 0.01308
NM_021957.4(GYS2):c.280G>A (p.Ala94Thr) rs34225615 0.00845
NM_021957.4(GYS2):c.1872A>G (p.Glu624=) rs142883971 0.00562
NM_021957.4(GYS2):c.577G>A (p.Ala193Thr) rs16924038 0.00462
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773 0.00404
NM_021957.4(GYS2):c.421G>A (p.Gly141Ser) rs149533049 0.00192
NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn) rs142656537 0.00146
NM_021957.4(GYS2):c.1701G>A (p.Leu567=) rs78337075 0.00092
NM_021957.4(GYS2):c.304-17T>C rs3765094 0.00067
NM_021957.4(GYS2):c.1710T>C (p.Phe570=) rs149907949 0.00056
NM_021957.4(GYS2):c.1251C>T (p.Asn417=) rs139882761 0.00031
NM_021957.4(GYS2):c.1644C>T (p.Tyr548=) rs146660038 0.00029
NM_021957.4(GYS2):c.1063-15C>G rs150691568 0.00016
NM_021957.4(GYS2):c.1890+12A>G rs192853475 0.00013
NM_021957.4(GYS2):c.1549+19G>A rs369697631 0.00012
NM_021957.4(GYS2):c.556A>T (p.Ile186Phe) rs376889935 0.00008
NM_021957.4(GYS2):c.1645+7G>T rs199505368 0.00006
NM_021957.4(GYS2):c.2007T>C (p.Asp669=) rs753403962 0.00006
NM_021957.4(GYS2):c.-17G>A rs181144954 0.00004
NM_021957.4(GYS2):c.1128C>T (p.Asn376=) rs139043251 0.00004
NM_021957.4(GYS2):c.831T>C (p.Val277=) rs756223943 0.00004
NM_021957.4(GYS2):c.1657G>A (p.Val553Ile) rs186184722 0.00003
NM_021957.4(GYS2):c.395G>A (p.Gly132Asp) rs541099681 0.00003
NM_021957.4(GYS2):c.627T>A (p.Leu209=) rs767838400 0.00003
NM_021957.4(GYS2):c.1716T>C (p.Tyr572=) rs747594126 0.00002
NM_021957.4(GYS2):c.1230-5T>G rs777032042 0.00001
NM_021957.4(GYS2):c.1899A>G (p.Gly633=) rs776375923 0.00001
NM_021957.4(GYS2):c.520T>C (p.Tyr174His) rs937397555 0.00001
NM_021957.4(GYS2):c.942-7del rs537907545 0.00001
NM_021957.4(GYS2):c.121+20del rs780527297
NM_021957.4(GYS2):c.1554A>G (p.Glu518=) rs1057522938
NM_021957.4(GYS2):c.1791T>C (p.Asp597=) rs1057520488
NM_021957.4(GYS2):c.1890+25del rs36023861
NM_021957.4(GYS2):c.279C>G (p.Asp93Glu) rs779704436
NM_021957.4(GYS2):c.303+19C>T rs1057522225
NM_021957.4(GYS2):c.789A>G (p.Ala263=) rs886038665

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