ClinVar Miner

List of variants in gene KCNQ2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 257
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HGVS dbSNP
GRCh37/hg19 20q13.33(chr20:62075098-62119121)x4
NM_004518.5(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.2(KCNQ2):c.1229delC (p.Pro410Argfs) rs886041339
NM_172107.2(KCNQ2):c.1539delC (p.Gly514Glufs) rs1064794686
NM_172107.2(KCNQ2):c.2085delC (p.Thr696Argfs) rs1131691658
NM_172107.2(KCNQ2):c.2401delT (p.Ser801Profs) rs1064793852
NM_172107.2(KCNQ2):c.2555delC (p.Pro852Argfs) rs1064793317
NM_172107.2(KCNQ2):c.297delG (p.Phe100Serfs) rs886041611
NM_172107.2(KCNQ2):c.303_305delCCT (p.Leu102del) rs1064795435
NM_172107.2(KCNQ2):c.329_332delCTGT (p.Ser110Cysfs) rs1064796151
NM_172107.2(KCNQ2):c.624delG (p.Met208Ilefs) rs886039485
NM_172107.2(KCNQ2):c.992delA (p.Lys331Argfs) rs886042010
NM_172107.3(KCNQ2):c.1004C>T (p.Pro335Leu) rs796052641
NM_172107.3(KCNQ2):c.1009G>A (p.Ala337Thr) rs796052642
NM_172107.3(KCNQ2):c.1010C>G (p.Ala337Gly) rs796052643
NM_172107.3(KCNQ2):c.1020C>G (p.Ile340Met) rs752073942
NM_172107.3(KCNQ2):c.102del (p.Thr35Profs)
NM_172107.3(KCNQ2):c.1049A>T (p.Asn350Ile) rs772800738
NM_172107.3(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_172107.3(KCNQ2):c.1058G>A (p.Arg353His) rs796052645
NM_172107.3(KCNQ2):c.1065C>G (p.Asp355Glu) rs200395340
NM_172107.3(KCNQ2):c.1067T>C (p.Leu356Pro) rs1057518772
NM_172107.3(KCNQ2):c.1075A>G (p.Thr359Ala) rs1064793334
NM_172107.3(KCNQ2):c.1088A>G (p.Tyr363Cys) rs794727935
NM_172107.3(KCNQ2):c.1093C>T (p.Arg365Ter) rs1085307463
NM_172107.3(KCNQ2):c.1136A>T (p.Tyr379Phe) rs752773828
NM_172107.3(KCNQ2):c.1149-3C>T rs1555860723
NM_172107.3(KCNQ2):c.1154T>A (p.Ile385Asn) rs1057519123
NM_172107.3(KCNQ2):c.1160del (p.Pro387Argfs) rs796052657
NM_172107.3(KCNQ2):c.1172T>C (p.Leu391Pro) rs796052646
NM_172107.3(KCNQ2):c.1178del (p.Leu393Argfs) rs1555860693
NM_172107.3(KCNQ2):c.1198A>G (p.Lys400Glu) rs796052647
NM_172107.3(KCNQ2):c.1204G>T (p.Gly402Ter) rs1064794001
NM_172107.3(KCNQ2):c.1209C>T (p.Leu403=) rs752280961
NM_172107.3(KCNQ2):c.1216A>G (p.Arg406Gly) rs1240338507
NM_172107.3(KCNQ2):c.1218-18T>G rs908502131
NM_172107.3(KCNQ2):c.1229dup (p.Pro411Alafs) rs886041339
NM_172107.3(KCNQ2):c.1241C>G (p.Ser414Cys) rs1555859111
NM_172107.3(KCNQ2):c.1259C>G (p.Pro420Arg) rs139164500
NM_172107.3(KCNQ2):c.1259C>T (p.Pro420Leu) rs139164500
NM_172107.3(KCNQ2):c.1270C>T (p.Pro424Ser) rs748120886
NM_172107.3(KCNQ2):c.128C>T (p.Ala43Val) rs749554385
NM_172107.3(KCNQ2):c.1301+7C>T rs374877247
NM_172107.3(KCNQ2):c.1301+8G>T rs532111320
NM_172107.3(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_172107.3(KCNQ2):c.1347C>T (p.Gly449=) rs771845478
NM_172107.3(KCNQ2):c.1357_1373del17 (p.Lys453Alafs) rs1555854643
NM_172107.3(KCNQ2):c.1405G>A (p.Ala469Thr) rs781778855
NM_172107.3(KCNQ2):c.144delC (p.Lys49Serfs) rs1555881809
NM_172107.3(KCNQ2):c.1477C>T (p.Arg493Cys) rs759338332
NM_172107.3(KCNQ2):c.149G>A (p.Arg50His) rs1064797286
NM_172107.3(KCNQ2):c.1503C>T (p.Ala501=) rs1801545
NM_172107.3(KCNQ2):c.1505C>T (p.Ala502Val) rs375264483
NM_172107.3(KCNQ2):c.1508C>G (p.Ser503Ter) rs1131691734
NM_172107.3(KCNQ2):c.1539C>T (p.Pro513=) rs376713245
NM_172107.3(KCNQ2):c.1540G>A (p.Gly514Arg) rs772669887
NM_172107.3(KCNQ2):c.1541G>A (p.Gly514Glu) rs1358495877
NM_172107.3(KCNQ2):c.1545G>T (p.Glu515Asp) rs117067974
NM_172107.3(KCNQ2):c.1573T>A (p.Cys525Ser) rs371162714
NM_172107.3(KCNQ2):c.1604dup (p.Leu536Profs) rs886041608
NM_172107.3(KCNQ2):c.1625C>T (p.Ala542Val) rs796052648
NM_172107.3(KCNQ2):c.1627G>A (p.Val543Met) rs794727134
NM_172107.3(KCNQ2):c.1631+1G>A rs1057516121
NM_172107.3(KCNQ2):c.1631+5G>A rs1178354607
NM_172107.3(KCNQ2):c.1631G>A (p.Cys544Tyr) rs1057518492
NM_172107.3(KCNQ2):c.1632-1G>A rs118192233
NM_172107.3(KCNQ2):c.1633G>A (p.Val545Ile) rs757608181
NM_172107.3(KCNQ2):c.1637T>C (p.Met546Thr) rs886041860
NM_172107.3(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.3(KCNQ2):c.1640G>A (p.Arg547Gln) rs760984494
NM_172107.3(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.3(KCNQ2):c.1658G>A (p.Arg553Gln) rs118192234
NM_172107.3(KCNQ2):c.1658G>T (p.Arg553Leu) rs118192234
NM_172107.3(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.3(KCNQ2):c.1679G>A (p.Arg560Gln) rs1057517919
NM_172107.3(KCNQ2):c.1682C>T (p.Pro561Leu) rs796052652
NM_172107.3(KCNQ2):c.1686C>A (p.Tyr562Ter) rs1057520773
NM_172107.3(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.3(KCNQ2):c.1687G>T (p.Asp563Tyr) rs796052653
NM_172107.3(KCNQ2):c.1689C>T (p.Asp563=) rs35450031
NM_172107.3(KCNQ2):c.1700T>A (p.Val567Asp) rs1131691518
NM_172107.3(KCNQ2):c.1709del (p.Gln570Argfs) rs1555853549
NM_172107.3(KCNQ2):c.1732A>G (p.Met578Val) rs1057516123
NM_172107.3(KCNQ2):c.1733T>C (p.Met578Thr) rs1555853524
NM_172107.3(KCNQ2):c.1734G>C (p.Met578Ile) rs796052655
NM_172107.3(KCNQ2):c.1734_1735delGCinsAA (p.Met578_Leu579delinsIleMet) rs796052665
NM_172107.3(KCNQ2):c.1741C>G (p.Arg581Gly) rs118192236
NM_172107.3(KCNQ2):c.1741C>T (p.Arg581Ter) rs118192236
NM_172107.3(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.3(KCNQ2):c.1742G>T (p.Arg581Leu) rs118192235
NM_172107.3(KCNQ2):c.1757A>C (p.Gln586Pro) rs796052656
NM_172107.3(KCNQ2):c.1764-1G>C rs796052649
NM_172107.3(KCNQ2):c.1793C>T (p.Ala598Val) rs746079131
NM_172107.3(KCNQ2):c.17G>C (p.Arg6Pro) rs866843916
NM_172107.3(KCNQ2):c.1800G>A (p.Thr600=) rs587780368
NM_172107.3(KCNQ2):c.1810C>T (p.Arg604Cys) rs780942181
NM_172107.3(KCNQ2):c.1814C>G (p.Thr605Ser) rs751334184
NM_172107.3(KCNQ2):c.1816A>T (p.Lys606Ter) rs1555851516
NM_172107.3(KCNQ2):c.1820delG (p.Gly607Alafs) rs1555851513
NM_172107.3(KCNQ2):c.1827C>T (p.Ala609=) rs369438374
NM_172107.3(KCNQ2):c.1842C>T (p.Pro614=) rs552807375
NM_172107.3(KCNQ2):c.1864C>T (p.Arg622Trp) rs772405187
NM_172107.3(KCNQ2):c.1887+1G>T rs796052670
NM_172107.3(KCNQ2):c.1887+5G>A rs777916008
NM_172107.3(KCNQ2):c.1888-3C>T rs772971971
NM_172107.3(KCNQ2):c.1888del (p.Val630Serfs) rs796052668
NM_172107.3(KCNQ2):c.1930dup (p.Tyr644Leufs) rs796052666
NM_172107.3(KCNQ2):c.1937A>G (p.Gln646Arg) rs766755499
NM_172107.3(KCNQ2):c.1940G>A (p.Arg647Gln) rs765583552
NM_172107.3(KCNQ2):c.1955C>G (p.Pro652Arg) rs770730662
NM_172107.3(KCNQ2):c.1955C>T (p.Pro652Leu) rs770730662
NM_172107.3(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.3(KCNQ2):c.204dup (p.Lys69Glnfs) rs118192188
NM_172107.3(KCNQ2):c.2050G>A (p.Gly684Ser) rs577281854
NM_172107.3(KCNQ2):c.2052C>T (p.Gly684=) rs764444302
NM_172107.3(KCNQ2):c.2068G>A (p.Val690Met) rs373902907
NM_172107.3(KCNQ2):c.2087C>T (p.Thr696Met) rs570139975
NM_172107.3(KCNQ2):c.2126_2127del (p.Pro709Argfs) rs796052667
NM_172107.3(KCNQ2):c.2126dup (p.Val710Cysfs) rs1555850842
NM_172107.3(KCNQ2):c.2127del (p.Val710Serfs) rs118192244
NM_172107.3(KCNQ2):c.2172G>A (p.Pro724=)
NM_172107.3(KCNQ2):c.2209G>A (p.Gly737Ser) rs755013341
NM_172107.3(KCNQ2):c.2219T>C (p.Val740Ala) rs1064797020
NM_172107.3(KCNQ2):c.222C>G (p.Tyr74Ter) rs796052613
NM_172107.3(KCNQ2):c.2245G>T (p.Glu749Ter) rs796052658
NM_172107.3(KCNQ2):c.2280C>T (p.Arg760=) rs753696924
NM_172107.3(KCNQ2):c.2281G>A (p.Ala761Thr) rs587780366
NM_172107.3(KCNQ2):c.2299C>T (p.Arg767Trp) rs755823361
NM_172107.3(KCNQ2):c.22G>T (p.Gly8Cys) rs769045070
NM_172107.3(KCNQ2):c.2316G>A (p.Pro772=) rs587780367
NM_172107.3(KCNQ2):c.2321G>T (p.Cys774Phe) rs762596565
NM_172107.3(KCNQ2):c.2355C>A (p.Asp785Glu) rs781121496
NM_172107.3(KCNQ2):c.2358G>A (p.Thr786=) rs559610397
NM_172107.3(KCNQ2):c.2377G>T (p.Val793Leu) rs377227909
NM_172107.3(KCNQ2):c.2404T>C (p.Phe802Leu) rs796052659
NM_172107.3(KCNQ2):c.2446G>A (p.Ala816Thr) rs796052660
NM_172107.3(KCNQ2):c.2465C>T (p.Ala822Val) rs796052661
NM_172107.3(KCNQ2):c.2500A>G (p.Ile834Val) rs1555850289
NM_172107.3(KCNQ2):c.2543C>T (p.Pro848Leu) rs377633507
NM_172107.3(KCNQ2):c.2553C>T (p.Pro851=)
NM_172107.3(KCNQ2):c.2555C>T (p.Pro852Leu) rs745508762
NM_172107.3(KCNQ2):c.2572G>A (p.Gly858Ser) rs756609768
NM_172107.3(KCNQ2):c.2584T>C (p.Phe862Leu) rs796052662
NM_172107.3(KCNQ2):c.2602G>C (p.Ala868Pro) rs774595024
NM_172107.3(KCNQ2):c.274dup (p.Ala92Glyfs) rs886041890
NM_172107.3(KCNQ2):c.285C>A (p.Tyr95Ter) rs1555881741
NM_172107.3(KCNQ2):c.286dup (p.His96Profs) rs1085307905
NM_172107.3(KCNQ2):c.287A>C (p.His96Pro) rs868055567
NM_172107.3(KCNQ2):c.290C>T (p.Ala97Val) rs1131691879
NM_172107.3(KCNQ2):c.294C>G (p.Tyr98Ter) rs796052614
NM_172107.3(KCNQ2):c.297-2A>G rs796052615
NM_172107.3(KCNQ2):c.2T>A (p.Met1Lys) rs118192186
NM_172107.3(KCNQ2):c.307G>A (p.Val103Ile) rs1555874588
NM_172107.3(KCNQ2):c.311T>C (p.Phe104Ser) rs1064796940
NM_172107.3(KCNQ2):c.320T>C (p.Leu107Pro) rs1555874569
NM_172107.3(KCNQ2):c.322G>A (p.Val108Met) rs749164961
NM_172107.3(KCNQ2):c.333_334del (p.Ser113Hisfs) rs796052663
NM_172107.3(KCNQ2):c.338C>T (p.Ser113Phe) rs796052616
NM_172107.3(KCNQ2):c.338_339delCCinsAT (p.Ser113Tyr) rs1555874555
NM_172107.3(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.3(KCNQ2):c.375C>T (p.Ala125=)
NM_172107.3(KCNQ2):c.380A>G (p.Tyr127Cys) rs796052617
NM_172107.3(KCNQ2):c.415G>A (p.Val139Met) rs773083197
NM_172107.3(KCNQ2):c.430C>T (p.Arg144Trp) rs1555873985
NM_172107.3(KCNQ2):c.463C>T (p.Arg155Cys) rs886042698
NM_172107.3(KCNQ2):c.485A>G (p.Lys162Arg) rs754250122
NM_172107.3(KCNQ2):c.505T>C (p.Cys169Arg) rs1555873939
NM_172107.3(KCNQ2):c.506G>T (p.Cys169Phe) rs1064793392
NM_172107.3(KCNQ2):c.518dup (p.Met174Hisfs) rs1555873813
NM_172107.3(KCNQ2):c.523G>C (p.Val175Leu) rs1057516082
NM_172107.3(KCNQ2):c.532G>A (p.Ala178Thr) rs1555873790
NM_172107.3(KCNQ2):c.544G>A (p.Val182Met) rs1085307920
NM_172107.3(KCNQ2):c.554C>T (p.Ala185Val) rs1131691529
NM_172107.3(KCNQ2):c.563A>C (p.Gln188Pro) rs1064797285
NM_172107.3(KCNQ2):c.578C>A (p.Ala193Asp) rs796052619
NM_172107.3(KCNQ2):c.583T>C (p.Ser195Pro) rs796052620
NM_172107.3(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.3(KCNQ2):c.599T>C (p.Leu200Pro) rs796052622
NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.3(KCNQ2):c.611A>G (p.Gln204Arg) rs796052624
NM_172107.3(KCNQ2):c.612G>C (p.Gln204His) rs796052625
NM_172107.3(KCNQ2):c.612G>T (p.Gln204His) rs796052625
NM_172107.3(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.3(KCNQ2):c.620G>A (p.Arg207Gln) rs118192200
NM_172107.3(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172107.3(KCNQ2):c.629G>C (p.Arg210Pro) rs886041262
NM_172107.3(KCNQ2):c.631A>G (p.Met211Val) rs1057524599
NM_172107.3(KCNQ2):c.635A>T (p.Asp212Val) rs118192202
NM_172107.3(KCNQ2):c.636C>A (p.Asp212Glu) rs796052627
NM_172107.3(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.3(KCNQ2):c.638G>A (p.Arg213Gln) rs397514581
NM_172107.3(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.3(KCNQ2):c.641G>C (p.Arg214Pro) rs1057518555
NM_172107.3(KCNQ2):c.654G>A (p.Trp218Ter) rs1555873683
NM_172107.3(KCNQ2):c.657G>C (p.Lys219Asn) rs770290221
NM_172107.3(KCNQ2):c.682C>T (p.His228Tyr) rs1555873665
NM_172107.3(KCNQ2):c.691-13G>A rs547887704
NM_172107.3(KCNQ2):c.691G>C (p.Glu231Gln) rs1064794063
NM_172107.3(KCNQ2):c.692A>G (p.Glu231Gly) rs796052629
NM_172107.3(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
NM_172107.3(KCNQ2):c.712A>C (p.Ile238Leu) rs747050726
NM_172107.3(KCNQ2):c.716G>T (p.Gly239Val) rs796052630
NM_172107.3(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.3(KCNQ2):c.743T>C (p.Phe248Ser) rs1057518068
NM_172107.3(KCNQ2):c.761A>G (p.Glu254Gly) rs794727739
NM_172107.3(KCNQ2):c.764A>G (p.Lys255Arg) rs1555871862
NM_172107.3(KCNQ2):c.769G>T (p.Glu257Ter) rs1555871853
NM_172107.3(KCNQ2):c.774C>T (p.Asn258=) rs770187706
NM_172107.3(KCNQ2):c.776A>G (p.Asp259Gly) rs1057518489
NM_172107.3(KCNQ2):c.782T>C (p.Phe261Ser) rs796052631
NM_172107.3(KCNQ2):c.790T>A (p.Tyr264Asn) rs796052632
NM_172107.3(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.3(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.3(KCNQ2):c.795G>A (p.Ala265=) rs148654588
NM_172107.3(KCNQ2):c.806G>T (p.Trp269Leu) rs796052633
NM_172107.3(KCNQ2):c.807G>A (p.Trp269Ter) rs118192208
NM_172107.3(KCNQ2):c.809G>A (p.Trp270Ter) rs796052634
NM_172107.3(KCNQ2):c.811G>C (p.Gly271Arg) rs1064797284
NM_172107.3(KCNQ2):c.815T>C (p.Leu272Pro) rs1057519227
NM_172107.3(KCNQ2):c.816+1G>A rs1057519124
NM_172107.3(KCNQ2):c.818T>A (p.Ile273Asn) rs796052635
NM_172107.3(KCNQ2):c.819C>G (p.Ile273Met) rs771282785
NM_172107.3(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.3(KCNQ2):c.827C>T (p.Thr276Ile) rs1057516095
NM_172107.3(KCNQ2):c.833T>A (p.Ile278Asn) rs1057523728
NM_172107.3(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728
NM_172107.3(KCNQ2):c.841G>A (p.Gly281Arg) rs794727813
NM_172107.3(KCNQ2):c.841G>T (p.Gly281Trp) rs794727813
NM_172107.3(KCNQ2):c.842G>A (p.Gly281Glu) rs1064795489
NM_172107.3(KCNQ2):c.844G>A (p.Asp282Asn) rs796052636
NM_172107.3(KCNQ2):c.844G>C (p.Asp282His) rs796052636
NM_172107.3(KCNQ2):c.848A>G (p.Lys283Arg) rs796052637
NM_172107.3(KCNQ2):c.856dup (p.Gln286Profs) rs1555870470
NM_172107.3(KCNQ2):c.860C>T (p.Thr287Ile) rs727503973
NM_172107.3(KCNQ2):c.868G>A (p.Gly290Ser) rs1057516098
NM_172107.3(KCNQ2):c.869G>A (p.Gly290Asp) rs397514582
NM_172107.3(KCNQ2):c.875_876delTCinsCCT (p.Leu292Profs) rs796052664
NM_172107.3(KCNQ2):c.881C>T (p.Ala294Val) rs118192211
NM_172107.3(KCNQ2):c.902G>T (p.Gly301Val) rs1131691936
NM_172107.3(KCNQ2):c.913_915del (p.Phe305del) rs118192212
NM_172107.3(KCNQ2):c.915C>A (p.Phe305Leu) rs775918190
NM_172107.3(KCNQ2):c.916G>C (p.Ala306Pro) rs74315390
NM_172107.3(KCNQ2):c.921G>A (p.Leu307=)
NM_172107.3(KCNQ2):c.927+1G>A rs1555870346
NM_172107.3(KCNQ2):c.932T>A (p.Ile311Asn) rs1131691356
NM_172107.3(KCNQ2):c.935T>C (p.Leu312Ser) rs1057518619
NM_172107.3(KCNQ2):c.937G>T (p.Gly313Trp) rs796052639
NM_172107.3(KCNQ2):c.940T>C (p.Ser314Pro) rs1064795058
NM_172107.3(KCNQ2):c.956A>G (p.Lys319Arg) rs1057524860
NM_172107.3(KCNQ2):c.981_985delGCACTinsCCCGGCAGCAGG (p.Lys327Asnfs) rs1555869796
NM_172107.3(KCNQ2):c.982C>A (p.His328Asn) rs1555869803
NM_172107.3(KCNQ2):c.986T>C (p.Phe329Ser) rs1064796535
NM_172107.3(KCNQ2):c.992A>C (p.Lys331Thr)
NM_172107.3(KCNQ2):c.995G>A (p.Arg332Lys) rs796052640
NM_172107.3(KCNQ2):c.997C>T (p.Arg333Trp) rs118192215
NM_172107.3(KCNQ2):c.998G>A (p.Arg333Gln) rs118192216
NM_172109.2(KCNQ2):c.1120T>C (p.Tyr374His) rs886042605

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