ClinVar Miner

List of variants in gene GYS2 reported by GeneDx

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_021957.4(GYS2):c.496-55G>T rs7963756 0.96353
NM_021957.4(GYS2):c.303+155A>C rs2126887 0.96309
NM_021957.4(GYS2):c.121+134T>C rs153944 0.95835
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.1063-222T>C rs2126884 0.74377
NM_021957.4(GYS2):c.1169+170G>T rs1871141 0.73936
NM_021957.4(GYS2):c.941+64A>G rs1473423 0.72183
NM_021957.4(GYS2):c.942-83T>G rs1473422 0.72181
NM_021957.4(GYS2):c.1062+51T>C rs1473421 0.72180
NM_021957.4(GYS2):c.823+166G>A rs2306179 0.69915
NM_021957.4(GYS2):c.824-221C>A rs10770833 0.69785
NM_021957.4(GYS2):c.1423-104A>G rs1904121 0.51132
NM_021957.4(GYS2):c.*152C>T rs936 0.46898
NM_021957.4(GYS2):c.*6A>T rs10431213 0.30676
NM_021957.4(GYS2):c.1890+234G>A rs10492118 0.23979
NM_021957.4(GYS2):c.1549+162A>G rs3765091 0.22597
NM_021957.4(GYS2):c.1809+100A>T rs1871128 0.22480
NM_021957.4(GYS2):c.1809+101T>A rs1871129 0.22477
NM_021957.4(GYS2):c.1423-87G>C rs3765089 0.19556
NM_021957.4(GYS2):c.1550-59T>C rs3741841 0.19524
NM_021957.4(GYS2):c.942-17G>A rs8192697 0.18537
NM_021957.4(GYS2):c.1890+179G>T rs67723454 0.14735
NM_021957.4(GYS2):c.304-105T>C rs16924043 0.02806
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.1550-99T>C rs73236799 0.02313
NM_021957.4(GYS2):c.679-71G>A rs3816655 0.02249
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.1423-191C>T rs73238712 0.01796
NM_021957.4(GYS2):c.496-54C>T rs116790126 0.01696
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
NC_000012.12:g.21604858T>C rs189075080 0.00491
NM_021957.4(GYS2):c.1646-146A>G rs115171392 0.00486
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.495+3A>G rs368280374 0.00022
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.630G>A (p.Gly210=) rs201503558 0.00012
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln) rs121918420 0.00009
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419 0.00009
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.547C>T (p.Gln183Ter) rs201157731 0.00005
NM_021957.4(GYS2):c.-17G>A rs181144954 0.00004
NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro) rs121918421 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.942-18G>T rs772703582 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.1081del (p.Thr361fs) rs771205749 0.00001
NM_021957.4(GYS2):c.1157G>A (p.Arg386Gln) rs751135925 0.00001
NM_021957.4(GYS2):c.1230-5T>G rs777032042 0.00001
NM_021957.4(GYS2):c.1475A>T (p.Asp492Val) rs1064793142 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
NC_000012.12:g.21604880C>T rs153943
NM_021957.4(GYS2):c.1062+215_1062+219del rs60049724
NM_021957.4(GYS2):c.1063-103C>A rs143144129
NM_021957.4(GYS2):c.1170-99_1170-85del rs60340580
NM_021957.4(GYS2):c.121+20del rs780527297
NM_021957.4(GYS2):c.122-28A>T rs111797912
NM_021957.4(GYS2):c.122-8_186delinsATCAGA rs2136913413
NM_021957.4(GYS2):c.1427T>A (p.Ile476Asn) rs863224039
NM_021957.4(GYS2):c.1522T>G (p.Tyr508Asp) rs1064793143
NM_021957.4(GYS2):c.1554A>G (p.Glu518=) rs1057522938
NM_021957.4(GYS2):c.1646-130del rs201636818
NM_021957.4(GYS2):c.1789G>A (p.Asp597Asn) rs750238325
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.299G>A (p.Cys100Tyr) rs144077289
NM_021957.4(GYS2):c.303+19C>T rs1057522225
NM_021957.4(GYS2):c.304-74C>A rs11046126
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter) rs150382575
NM_021957.4(GYS2):c.734A>G (p.Glu245Gly) rs1418749030
NM_021957.4(GYS2):c.942-42_974del rs1555156695

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