ClinVar Miner

List of variants in gene KCNJ2 reported as uncertain significance for Andersen-Tawil syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 254
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HGVS dbSNP gnomAD frequency
NM_000891.3(KCNJ2):c.*2753T>C rs1391769255 0.03695
NM_000891.3(KCNJ2):c.*2759T>C rs906331617 0.03578
NM_000891.3(KCNJ2):c.*2754T>C rs9915769 0.02225
NM_000891.3(KCNJ2):c.*2483G>A rs559751598 0.00158
NM_000891.3(KCNJ2):c.*2277C>T rs185701493 0.00071
NM_000891.3(KCNJ2):c.*1794C>A rs55864879 0.00067
NM_000891.3(KCNJ2):c.*3536C>T rs529969829 0.00022
NM_000891.3(KCNJ2):c.*3618A>G rs530574251 0.00022
NM_000891.3(KCNJ2):c.-228C>T rs765064661 0.00022
NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys) rs375330016 0.00015
NM_000891.3(KCNJ2):c.*1128dup rs777658732 0.00014
NM_000891.3(KCNJ2):c.*213G>A rs886053326 0.00014
NM_000891.3(KCNJ2):c.*879C>T rs969533203 0.00014
NM_000891.3(KCNJ2):c.*2887T>G rs770284843 0.00013
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu) rs373799322 0.00013
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser) rs141035459 0.00011
NM_000891.3(KCNJ2):c.*2875_*2876del rs561353262 0.00010
NM_000891.3(KCNJ2):c.*3409A>G rs551384883 0.00010
NM_000891.3(KCNJ2):c.-195C>G rs544342049 0.00009
NM_000891.3(KCNJ2):c.*2616A>G rs542407766 0.00007
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys) rs202067116 0.00007
NM_000891.3(KCNJ2):c.*2065A>G rs778894111 0.00006
NM_000891.3(KCNJ2):c.*3353C>T rs886053346 0.00006
NM_000891.3(KCNJ2):c.*709A>G rs950748341 0.00005
NM_000891.3(KCNJ2):c.1222C>G (p.Leu408Val) rs753757610 0.00005
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser) rs375605948 0.00005
NM_000891.3(KCNJ2):c.*1320C>T rs923732685 0.00004
NM_000891.3(KCNJ2):c.*1440A>T rs886053332 0.00004
NM_000891.3(KCNJ2):c.*2508G>A rs913851832 0.00004
NM_000891.3(KCNJ2):c.*2812T>C rs886053344 0.00004
NM_000891.3(KCNJ2):c.-88C>T rs886053322 0.00004
NM_000891.3(KCNJ2):c.1199C>T (p.Thr400Met) rs144022753 0.00004
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln) rs766143485 0.00004
NM_000891.3(KCNJ2):c.511A>G (p.Ile171Val) rs150326473 0.00004
NM_000891.3(KCNJ2):c.*122G>A rs886053324 0.00003
NM_000891.3(KCNJ2):c.*124G>A rs886053325 0.00003
NM_000891.3(KCNJ2):c.*2698T>C rs368668294 0.00003
NM_000891.3(KCNJ2):c.*3032A>G rs548485707 0.00003
NM_000891.3(KCNJ2):c.1205C>T (p.Thr402Met) rs759070406 0.00003
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu) rs749707062 0.00003
NM_000891.3(KCNJ2):c.23G>A (p.Arg8His) rs140090605 0.00003
NM_000891.3(KCNJ2):c.359A>C (p.Lys120Thr) rs375646186 0.00003
NM_000891.3(KCNJ2):c.*1367T>C rs565257870 0.00002
NM_000891.3(KCNJ2):c.*1702CT[3] rs1555604187 0.00002
NM_000891.3(KCNJ2):c.*2001A>G rs886053336 0.00002
NM_000891.3(KCNJ2):c.1165G>A (p.Asp389Asn) rs140053197 0.00002
NM_000891.3(KCNJ2):c.128G>A (p.Cys43Tyr) rs774424161 0.00002
NM_000891.3(KCNJ2):c.236T>C (p.Ile79Thr) rs786205813 0.00002
NM_000891.3(KCNJ2):c.*1030C>T rs1310873825 0.00001
NM_000891.3(KCNJ2):c.*1361C>A rs1191660760 0.00001
NM_000891.3(KCNJ2):c.*1412G>A rs886053331 0.00001
NM_000891.3(KCNJ2):c.*3025G>A rs536788614 0.00001
NM_000891.3(KCNJ2):c.*3352T>A rs886053345 0.00001
NM_000891.3(KCNJ2):c.*39C>T rs1196218333 0.00001
NM_000891.3(KCNJ2):c.*687A>C rs886053329 0.00001
NM_000891.3(KCNJ2):c.102G>C (p.Lys34Asn) rs1476737505 0.00001
NM_000891.3(KCNJ2):c.1115A>G (p.Asn372Ser) rs1279418065 0.00001
NM_000891.3(KCNJ2):c.1207C>A (p.Pro403Thr) rs752406680 0.00001
NM_000891.3(KCNJ2):c.1211C>G (p.Pro404Arg) rs760459401 0.00001
NM_000891.3(KCNJ2):c.1268G>A (p.Arg423Gln) rs745372216 0.00001
NM_000891.3(KCNJ2):c.14G>A (p.Arg5Gln) rs764311511 0.00001
NM_000891.3(KCNJ2):c.179A>G (p.Asn60Ser) rs1484750176 0.00001
NM_000891.3(KCNJ2):c.22C>T (p.Arg8Cys) rs529080615 0.00001
NM_000891.3(KCNJ2):c.302G>T (p.Cys101Phe) rs750630010 0.00001
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=) rs376921497 0.00001
NM_000891.3(KCNJ2):c.322C>G (p.Leu108Val) rs371331394 0.00001
NM_000891.3(KCNJ2):c.389C>T (p.Thr130Met) rs151168735 0.00001
NM_000891.3(KCNJ2):c.466A>G (p.Ile156Val) rs767934529 0.00001
NM_000891.3(KCNJ2):c.476T>C (p.Phe159Ser) rs1236228202 0.00001
NM_000891.3(KCNJ2):c.499G>A (p.Val167Met) rs140147979 0.00001
NM_000891.3(KCNJ2):c.532G>A (p.Ala178Thr) rs771965504 0.00001
NM_000891.3(KCNJ2):c.5_6insAAGTGTGCGAACCAACCGCTA (p.Val4_Ser10dup) rs2074383942 0.00001
NM_000891.3(KCNJ2):c.604G>A (p.Ala202Thr) rs759793133 0.00001
NM_000891.3(KCNJ2):c.694C>T (p.Leu232Phe) rs779856198 0.00001
NM_000891.3(KCNJ2):c.752A>G (p.Asn251Ser) rs1261477163 0.00001
NM_000891.3(KCNJ2):c.781A>G (p.Ile261Val) rs774461588 0.00001
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp) rs758092571 0.00001
NM_000891.3(KCNJ2):c.859A>C (p.Ile287Leu) rs758054840 0.00001
NM_000891.3(KCNJ2):c.868G>A (p.Ala290Thr) rs895505794 0.00001
NM_000891.3(KCNJ2):c.883G>A (p.Val295Met) rs2074389817 0.00001
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052 0.00001
NM_000891.3(KCNJ2):c.974G>A (p.Arg325His) rs1555604000 0.00001
NC_000017.10:g.(?_68171181)_(68172464_?)del
NC_000017.10:g.(?_68171181)_(68172464_?)dup
NM_000891.3(KCNJ2):c.*1226C>G rs749246339
NM_000891.3(KCNJ2):c.*1345G>A rs141156477
NM_000891.3(KCNJ2):c.*1449C>T rs2074403807
NM_000891.3(KCNJ2):c.*1631C>G rs886053333
NM_000891.3(KCNJ2):c.*1646T>C rs2074404964
NM_000891.3(KCNJ2):c.*1702_*1704dup rs1555604193
NM_000891.3(KCNJ2):c.*1702dup rs886053334
NM_000891.3(KCNJ2):c.*1719_*1721dup rs35753731
NM_000891.3(KCNJ2):c.*1720_*1721dup rs35753731
NM_000891.3(KCNJ2):c.*1721dup rs35753731
NM_000891.3(KCNJ2):c.*2270G>T rs545863243
NM_000891.3(KCNJ2):c.*2328T>G rs1233305858
NM_000891.3(KCNJ2):c.*2339G>C rs1273347996
NM_000891.3(KCNJ2):c.*2343C>T rs536283660
NM_000891.3(KCNJ2):c.*2370C>T rs2074409675
NM_000891.3(KCNJ2):c.*2526A>G rs886053337
NM_000891.3(KCNJ2):c.*2663T>C rs886053338
NM_000891.3(KCNJ2):c.*2748T>C rs9915768
NM_000891.3(KCNJ2):c.*2770_*2775del rs35656864
NM_000891.3(KCNJ2):c.*2771_*2775del rs35656864
NM_000891.3(KCNJ2):c.*2772_*2775del rs35656864
NM_000891.3(KCNJ2):c.*2774_*2775del rs35656864
NM_000891.3(KCNJ2):c.*2775dup rs35656864
NM_000891.3(KCNJ2):c.*2776del rs886053343
NM_000891.3(KCNJ2):c.*308C>T rs2074395230
NM_000891.3(KCNJ2):c.*3173C>A rs1467380962
NM_000891.3(KCNJ2):c.*324del rs570173316
NM_000891.3(KCNJ2):c.*3391_*3392dup rs552636156
NM_000891.3(KCNJ2):c.*3463del rs3841509
NM_000891.3(KCNJ2):c.*596T>A rs886053328
NM_000891.3(KCNJ2):c.-162delinsTCAGAGTAGT rs376713253
NM_000891.3(KCNJ2):c.-258C>T rs886053321
NM_000891.3(KCNJ2):c.1007A>G (p.Tyr336Cys)
NM_000891.3(KCNJ2):c.1010A>G (p.Tyr337Cys)
NM_000891.3(KCNJ2):c.1015G>C (p.Val339Leu)
NM_000891.3(KCNJ2):c.101A>G (p.Lys34Arg) rs772815957
NM_000891.3(KCNJ2):c.102G>T (p.Lys34Asn) rs1476737505
NM_000891.3(KCNJ2):c.1043A>G (p.Tyr348Cys) rs2144377812
NM_000891.3(KCNJ2):c.1063C>T (p.Leu355Phe) rs1411366891
NM_000891.3(KCNJ2):c.1067G>T (p.Cys356Phe) rs368406938
NM_000891.3(KCNJ2):c.106A>G (p.Lys36Glu)
NM_000891.3(KCNJ2):c.1085C>A (p.Ala362Glu)
NM_000891.3(KCNJ2):c.1088A>T (p.Glu363Val) rs2074391294
NM_000891.3(KCNJ2):c.1091A>G (p.Lys364Arg) rs1060500054
NM_000891.3(KCNJ2):c.1096T>A (p.Tyr366Asn) rs2144377919
NM_000891.3(KCNJ2):c.1103T>A (p.Leu368His) rs2144377937
NM_000891.3(KCNJ2):c.1109A>G (p.Asn370Ser) rs2144377959
NM_000891.3(KCNJ2):c.1112C>A (p.Ala371Glu) rs780233256
NM_000891.3(KCNJ2):c.1116T>G (p.Asn372Lys) rs2144377969
NM_000891.3(KCNJ2):c.1148C>G (p.Thr383Arg)
NM_000891.3(KCNJ2):c.1151G>A (p.Ser384Asn)
NM_000891.3(KCNJ2):c.1169G>T (p.Ser390Ile)
NM_000891.3(KCNJ2):c.1181T>C (p.Val394Ala)
NM_000891.3(KCNJ2):c.1190G>A (p.Ser397Asn) rs1567823283
NM_000891.3(KCNJ2):c.1193C>A (p.Thr398Asn)
NM_000891.3(KCNJ2):c.1196G>A (p.Ser399Asn) rs1598211624
NM_000891.3(KCNJ2):c.1196G>C (p.Ser399Thr) rs1598211624
NM_000891.3(KCNJ2):c.1198A>G (p.Thr400Ala)
NM_000891.3(KCNJ2):c.119G>C (p.Arg40Pro) rs766143485
NM_000891.3(KCNJ2):c.119G>T (p.Arg40Leu)
NM_000891.3(KCNJ2):c.1202A>G (p.Asp401Gly)
NM_000891.3(KCNJ2):c.1212del (p.Asp405fs) rs2074392185
NM_000891.3(KCNJ2):c.1215C>A (p.Asp405Glu) rs863224374
NM_000891.3(KCNJ2):c.1222C>T (p.Leu408Phe) rs753757610
NM_000891.3(KCNJ2):c.1235C>T (p.Ala412Val)
NM_000891.3(KCNJ2):c.1237A>T (p.Ser413Cys) rs910587867
NM_000891.3(KCNJ2):c.1238G>T (p.Ser413Ile) rs779960704
NM_000891.3(KCNJ2):c.1244C>A (p.Pro415His)
NM_000891.3(KCNJ2):c.1264C>T (p.Arg422Trp) rs1478741381
NM_000891.3(KCNJ2):c.1265G>A (p.Arg422Gln)
NM_000891.3(KCNJ2):c.1265G>T (p.Arg422Leu) rs199473390
NM_000891.3(KCNJ2):c.1284A>G (p.Ter428Trp)
NM_000891.3(KCNJ2):c.131G>A (p.Arg44Lys) rs2144376473
NM_000891.3(KCNJ2):c.136C>G (p.Arg46Gly) rs2074385043
NM_000891.3(KCNJ2):c.136C>T (p.Arg46Cys) rs2074385043
NM_000891.3(KCNJ2):c.13C>G (p.Arg5Gly)
NM_000891.3(KCNJ2):c.13C>T (p.Arg5Ter) rs1042485
NM_000891.3(KCNJ2):c.142G>A (p.Val48Met)
NM_000891.3(KCNJ2):c.149A>G (p.Lys50Arg) rs2144376499
NM_000891.3(KCNJ2):c.158A>G (p.His53Arg) rs1598211051
NM_000891.3(KCNJ2):c.160T>G (p.Cys54Gly) rs2144376507
NM_000891.3(KCNJ2):c.191A>G (p.Lys64Arg) rs2144376559
NM_000891.3(KCNJ2):c.203A>G (p.Tyr68Cys) rs2144376588
NM_000891.3(KCNJ2):c.205C>T (p.Leu69Phe)
NM_000891.3(KCNJ2):c.208G>A (p.Ala70Thr) rs375605948
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His) rs199473369
NM_000891.3(KCNJ2):c.214A>G (p.Ile72Val)
NM_000891.3(KCNJ2):c.224C>A (p.Thr75Lys)
NM_000891.3(KCNJ2):c.226T>G (p.Cys76Gly) rs786205812
NM_000891.3(KCNJ2):c.232G>C (p.Asp78His) rs199473372
NM_000891.3(KCNJ2):c.238C>T (p.Arg80Cys) rs2074385891
NM_000891.3(KCNJ2):c.239G>A (p.Arg80His) rs2144376668
NM_000891.3(KCNJ2):c.251T>C (p.Met84Thr)
NM_000891.3(KCNJ2):c.252G>A (p.Met84Ile)
NM_000891.3(KCNJ2):c.259A>G (p.Ile87Val) rs748958117
NM_000891.3(KCNJ2):c.261C>G (p.Ile87Met)
NM_000891.3(KCNJ2):c.265T>C (p.Cys89Arg)
NM_000891.3(KCNJ2):c.271G>A (p.Ala91Thr) rs2144376712
NM_000891.3(KCNJ2):c.272C>T (p.Ala91Val)
NM_000891.3(KCNJ2):c.290T>C (p.Leu97Pro) rs2144376751
NM_000891.3(KCNJ2):c.291_293del (p.Phe99del) rs2074386225
NM_000891.3(KCNJ2):c.299G>T (p.Gly100Val) rs1598211153
NM_000891.3(KCNJ2):c.317T>C (p.Ile106Thr)
NM_000891.3(KCNJ2):c.31A>G (p.Ile11Val)
NM_000891.3(KCNJ2):c.326T>A (p.Leu109His)
NM_000891.3(KCNJ2):c.326T>C (p.Leu109Pro) rs1567822991
NM_000891.3(KCNJ2):c.334G>T (p.Asp112Tyr)
NM_000891.3(KCNJ2):c.341A>G (p.Asp114Gly) rs2074386589
NM_000891.3(KCNJ2):c.344C>T (p.Ala115Val) rs886053323
NM_000891.3(KCNJ2):c.371C>G (p.Ser124Cys) rs2144376873
NM_000891.3(KCNJ2):c.373G>A (p.Glu125Lys) rs2074386756
NM_000891.3(KCNJ2):c.388A>G (p.Thr130Ala) rs1555603936
NM_000891.3(KCNJ2):c.394G>A (p.Ala132Thr) rs2074386902
NM_000891.3(KCNJ2):c.410T>A (p.Ile137Asn) rs772055408
NM_000891.3(KCNJ2):c.410T>C (p.Ile137Thr)
NM_000891.3(KCNJ2):c.416C>T (p.Thr139Ile) rs1060500052
NM_000891.3(KCNJ2):c.431G>T (p.Gly144Val)
NM_000891.3(KCNJ2):c.437G>A (p.Gly146Asp) rs199473379
NM_000891.3(KCNJ2):c.452C>T (p.Thr151Met)
NM_000891.3(KCNJ2):c.459A>C (p.Glu153Asp)
NM_000891.3(KCNJ2):c.460T>G (p.Cys154Gly) rs2144376982
NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr) rs199473380
NM_000891.3(KCNJ2):c.478A>G (p.Met160Val)
NM_000891.3(KCNJ2):c.481G>A (p.Val161Met) rs2074387480
NM_000891.3(KCNJ2):c.499G>T (p.Val167Leu) rs140147979
NM_000891.3(KCNJ2):c.4G>C (p.Gly2Arg)
NM_000891.3(KCNJ2):c.500_514dup (p.Val167_Ile171dup) rs2144377032
NM_000891.3(KCNJ2):c.517G>T (p.Ala173Ser) rs778699148
NM_000891.3(KCNJ2):c.523A>C (p.Ile175Leu) rs761209037
NM_000891.3(KCNJ2):c.52G>A (p.Gly18Ser) rs947488726
NM_000891.3(KCNJ2):c.52G>C (p.Gly18Arg)
NM_000891.3(KCNJ2):c.553A>G (p.Lys185Glu)
NM_000891.3(KCNJ2):c.566G>C (p.Arg189Thr) rs199473381
NM_000891.3(KCNJ2):c.569A>T (p.Asn190Ile) rs1598211282
NM_000891.3(KCNJ2):c.578T>A (p.Leu193His) rs1555603955
NM_000891.3(KCNJ2):c.578T>G (p.Leu193Arg)
NM_000891.3(KCNJ2):c.580G>T (p.Val194Phe)
NM_000891.3(KCNJ2):c.586A>C (p.Ser196Arg)
NM_000891.3(KCNJ2):c.617G>A (p.Gly206Asp)
NM_000891.3(KCNJ2):c.633G>A (p.Met211Ile)
NM_000891.3(KCNJ2):c.636G>A (p.Trp212Ter) rs2144377213
NM_000891.3(KCNJ2):c.638G>A (p.Arg213Gln)
NM_000891.3(KCNJ2):c.643G>T (p.Gly215Cys)
NM_000891.3(KCNJ2):c.647A>T (p.Asn216Ile) rs2074388429
NM_000891.3(KCNJ2):c.653G>T (p.Arg218Leu) rs199473384
NM_000891.3(KCNJ2):c.659G>A (p.Ser220Asn) rs2074388522
NM_000891.3(KCNJ2):c.668T>G (p.Val223Gly) rs1555603969
NM_000891.3(KCNJ2):c.683G>A (p.Arg228Gln) rs1234083049
NM_000891.3(KCNJ2):c.706A>C (p.Ile236Leu)
NM_000891.3(KCNJ2):c.70A>G (p.Met24Val)
NM_000891.3(KCNJ2):c.721G>A (p.Glu241Lys)
NM_000891.3(KCNJ2):c.743T>C (p.Ile248Thr)
NM_000891.3(KCNJ2):c.744A>G (p.Ile248Met)
NM_000891.3(KCNJ2):c.763G>C (p.Asp255His)
NM_000891.3(KCNJ2):c.784T>G (p.Phe262Val) rs2074389312
NM_000891.3(KCNJ2):c.794C>T (p.Ser265Phe) rs1598211406
NM_000891.3(KCNJ2):c.839A>G (p.Tyr280Cys)
NM_000891.3(KCNJ2):c.877G>C (p.Glu293Gln) rs2144377579
NM_000891.3(KCNJ2):c.884T>C (p.Val295Ala) rs201162707
NM_000891.3(KCNJ2):c.89T>C (p.Phe30Ser)
NM_000891.3(KCNJ2):c.901A>C (p.Met301Leu) rs786205818
NM_000891.3(KCNJ2):c.901A>G (p.Met301Val) rs786205818
NM_000891.3(KCNJ2):c.922A>T (p.Thr308Ser) rs2144377666
NM_000891.3(KCNJ2):c.923C>T (p.Thr308Met)
NM_000891.3(KCNJ2):c.929A>G (p.Gln310Arg) rs1598211487
NM_000891.3(KCNJ2):c.954T>G (p.Asn318Lys)
NM_000891.3(KCNJ2):c.96C>G (p.Asn32Lys)
NM_000891.3(KCNJ2):c.979G>A (p.Glu327Lys)
NM_000891.3(KCNJ2):c.97G>C (p.Gly33Arg) rs375727662

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