ClinVar Miner

List of variants in gene KCNJ2 studied for Andersen Tawil syndrome

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Total variants: 167
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HGVS dbSNP gnomAD frequency
NM_000891.3(KCNJ2):c.*1267A>G rs236514 0.52229
NM_000891.3(KCNJ2):c.1146C>T (p.Leu382=) rs173135 0.12771
NM_000891.3(KCNJ2):c.*1069C>T rs45603434 0.09819
NM_000891.3(KCNJ2):c.*624G>A rs9302915 0.07098
NM_000891.3(KCNJ2):c.*558C>T rs9302914 0.06842
NM_000891.3(KCNJ2):c.*136G>A rs73998781 0.06798
NM_000891.3(KCNJ2):c.660C>T (p.Ser220=) rs7221086 0.06793
NM_000891.3(KCNJ2):c.*1198A>G rs9895478 0.06787
NM_000891.3(KCNJ2):c.*1251C>T rs9894661 0.06785
NM_000891.3(KCNJ2):c.*1266C>T rs9894677 0.06783
NM_000891.3(KCNJ2):c.*832G>A rs10083831 0.06743
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.*1596A>C rs117409545 0.02347
NM_000891.3(KCNJ2):c.*2754T>C rs9915769 0.02225
NM_000891.3(KCNJ2):c.*3496T>C rs3815307 0.01760
NM_000891.3(KCNJ2):c.*211T>C rs56194813 0.00513
NM_000891.3(KCNJ2):c.*1350G>A rs116077770 0.00360
NM_000891.3(KCNJ2):c.*79C>T rs55970278 0.00327
NM_000891.3(KCNJ2):c.*2262C>T rs575383136 0.00279
NM_000891.3(KCNJ2):c.*3163T>A rs149224363 0.00248
NM_000891.3(KCNJ2):c.*3208A>G rs188533495 0.00233
NM_000891.3(KCNJ2):c.*2893C>T rs137870461 0.00231
NM_000891.3(KCNJ2):c.*2483G>A rs559751598 0.00158
NM_000891.3(KCNJ2):c.*732T>G rs150985434 0.00145
NM_000891.3(KCNJ2):c.*210A>T rs146282466 0.00140
NM_000891.3(KCNJ2):c.-314T>C rs566186294 0.00140
NM_000891.3(KCNJ2):c.*766C>T rs186842823 0.00130
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.1229A>G (p.Asn410Ser) rs141069645 0.00042
NM_000891.3(KCNJ2):c.*996C>T rs77958248 0.00035
NM_000891.3(KCNJ2):c.*1125G>A rs191729421 0.00033
NM_000891.3(KCNJ2):c.*35A>C rs72552029 0.00033
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.*1465A>G rs183514608 0.00018
NM_000891.3(KCNJ2):c.*108G>A rs188588568 0.00017
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.-2C>T rs144760658 0.00013
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.867C>T (p.Asn289=) rs201909993 0.00010
NM_000891.3(KCNJ2):c.-195C>G rs544342049 0.00009
NM_000891.3(KCNJ2):c.*1815G>A rs552577704 0.00008
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.*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.*2698T>C rs368668294 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.119G>A (p.Arg40Gln) rs766143485 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.*3032A>G rs548485707 0.00003
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu) rs749707062 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.531C>T (p.Gly177=) rs544384907 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.*572G>T rs566129544 0.00001
NM_000891.3(KCNJ2):c.*687A>C rs886053329 0.00001
NM_000891.3(KCNJ2):c.1211C>G (p.Pro404Arg) rs760459401 0.00001
NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=) rs555386610 0.00001
NM_000891.3(KCNJ2):c.22C>T (p.Arg8Cys) rs529080615 0.00001
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=) rs376921497 0.00001
NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser) rs199473378 0.00001
NM_000891.3(KCNJ2):c.637C>T (p.Arg213Ter) rs764523123 0.00001
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp) rs758092571 0.00001
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052 0.00001
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.*1678dup rs145779709
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.*640GTT[4] rs397705636
NM_000891.3(KCNJ2):c.-162delinsTCAGAGTAGT rs376713253
NM_000891.3(KCNJ2):c.-258C>T rs886053321
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.1169G>T (p.Ser390Ile)
NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter) rs1598211614
NM_000891.3(KCNJ2):c.1196G>C (p.Ser399Thr) rs1598211624
NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=) rs748445140
NM_000891.3(KCNJ2):c.161G>T (p.Cys54Phe) rs199473650
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln) rs199473368
NM_000891.3(KCNJ2):c.203A>G (p.Tyr68Cys) rs2144376588
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His) rs199473369
NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val) rs104894575
NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg) rs104894585
NM_000891.3(KCNJ2):c.233A>G (p.Asp78Gly) rs199473371
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp) rs199473373
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.3(KCNJ2):c.269T>G (p.Leu90Arg)
NM_000891.3(KCNJ2):c.271_282del (p.Ala91_Leu94del) rs797044841
NM_000891.3(KCNJ2):c.285_296del (p.Trp96_Phe99del) rs2144376746
NM_000891.3(KCNJ2):c.299G>A (p.Gly100Asp)
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.376G>C (p.Val126Leu)
NM_000891.3(KCNJ2):c.388A>G (p.Thr130Ala) rs1555603936
NM_000891.3(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe) rs864622292
NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr) rs199473380
NM_000891.3(KCNJ2):c.557C>T (p.Pro186Leu) rs104894581
NM_000891.3(KCNJ2):c.574A>G (p.Thr192Ala) rs199473382
NM_000891.3(KCNJ2):c.578T>C (p.Leu193Pro) rs1555603955
NM_000891.3(KCNJ2):c.598G>A (p.Val200Met)
NM_000891.3(KCNJ2):c.646A>C (p.Asn216His) rs104894583
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_000891.3(KCNJ2):c.665T>C (p.Leu222Ser) rs1555603968
NM_000891.3(KCNJ2):c.794C>T (p.Ser265Phe) rs1598211406
NM_000891.3(KCNJ2):c.839A>G (p.Tyr280Cys)
NM_000891.3(KCNJ2):c.842del (p.Asp281fs)
NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp) rs104894579
NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val) rs104894579
NM_000891.3(KCNJ2):c.904G>A (p.Val302Met) rs104894582
NM_000891.3(KCNJ2):c.913A>C (p.Thr305Pro) rs199473387
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala) rs199473387
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys) rs199473389
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His) rs786205820
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del) rs2074390325
NM_000891.3(KCNJ2):c.966G>C (p.Trp322Cys) rs797044842

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