ClinVar Miner

List of variants in gene KCNQ2 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 328
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter) rs118192236 0.00001
NM_172107.4(KCNQ2):c.485A>G (p.Lys162Arg) rs754250122 0.00001
NC_000020.10:g.(?_61952107)_62044936del
NC_000020.10:g.(?_62001629)_(62038624_?)del
NC_000020.10:g.(?_62033334)_(62046267_?)del
NC_000020.10:g.(?_62037977)_(62051045_?)del
NC_000020.10:g.(?_62037997)_(62046489_?)del
NC_000020.10:g.(?_62037997)_(62051045_?)del
NC_000020.10:g.(?_62037997)_(62059808_?)del
NC_000020.10:g.(?_62038508)_(62044760_?)del
NC_000020.10:g.(?_62044566)_(62046452_?)del
NC_000020.10:g.(?_62044783)_(62065276_?)del
NC_000020.10:g.(?_62044793)_(62044944_?)del
NC_000020.10:g.(?_62046246)_(62055569_?)del
NC_000020.10:g.(?_62050952)_(62065276_?)del
NC_000020.10:g.(?_62055510)_(62078210_?)del
NC_000020.10:g.(?_62059700)_(62071081_?)del
NC_000020.10:g.(?_62059700)_(62078210_?)del
NC_000020.10:g.(?_62062702)_(62068213_?)del
NC_000020.10:g.(?_62065142)_(62076737_?)del
NC_000020.10:g.(?_62069968)_(62078200_?)del
NC_000020.10:g.(?_62070931)_(62076207_?)del
NC_000020.10:g.(?_62070931)_(62076737_?)del
NC_000020.10:g.(?_62073739)_(62073904_?)del
NC_000020.10:g.(?_62073739)_(62078210_?)del
NC_000020.10:g.(?_62075992)_(62078210_?)del
NC_000020.10:g.(?_62076571)_(62078210_?)del
NC_000020.10:g.(?_62078080)_(62078210_?)del
NC_000020.10:g.(?_62081939)_62119720del
NC_000020.11:g.(?_63419599)_(63439728_?)del
NC_000020.11:g.(?_63428347)_(63433923_?)del
NC_000020.11:g.(?_63431320)_(63433923_?)del
NC_000020.11:g.(?_63433725)_(63433923_?)del
NC_000020.11:g.(?_63438605)_(63446857_?)del
NM_172107.4(KCNQ2):c.1003C>G (p.Pro335Ala) rs1555869700
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu) rs796052641
NM_172107.4(KCNQ2):c.1006_1009dup (p.Ala337fs) rs2145712063
NM_172107.4(KCNQ2):c.1021C>T (p.Gln341Ter)
NM_172107.4(KCNQ2):c.1023G>C (p.Gln341His) rs2081071680
NM_172107.4(KCNQ2):c.1024-1G>A
NM_172107.4(KCNQ2):c.1027G>A (p.Ala343Thr)
NM_172107.4(KCNQ2):c.102del (p.Thr35fs) rs1568986619
NM_172107.4(KCNQ2):c.1041C>G (p.Tyr347Ter) rs770904422
NM_172107.4(KCNQ2):c.1042G>A (p.Ala348Thr) rs2080906700
NM_172107.4(KCNQ2):c.1042_1043del (p.Ala348fs)
NM_172107.4(KCNQ2):c.1043C>T (p.Ala348Val) rs1568916986
NM_172107.4(KCNQ2):c.1048_1050del (p.Asn350del)
NM_172107.4(KCNQ2):c.1049dup (p.Asn350fs)
NM_172107.4(KCNQ2):c.1051C>T (p.Leu351Phe) rs1057516106
NM_172107.4(KCNQ2):c.1054_1055del (p.Ser352fs)
NM_172107.4(KCNQ2):c.1056_1057delinsCG (p.Arg353Gly) rs2145680059
NM_172107.4(KCNQ2):c.1057C>G (p.Arg353Gly) rs118192218
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_172107.4(KCNQ2):c.1058G>A (p.Arg353His) rs796052645
NM_172107.4(KCNQ2):c.1064A>G (p.Asp355Gly) rs2080905274
NM_172107.4(KCNQ2):c.1065C>G (p.Asp355Glu) rs200395340
NM_172107.4(KCNQ2):c.1067T>A (p.Leu356Gln) rs1057518772
NM_172107.4(KCNQ2):c.106del (p.Arg36fs) rs1600886270
NM_172107.4(KCNQ2):c.1076C>A (p.Thr359Lys) rs118192219
NM_172107.4(KCNQ2):c.1079G>A (p.Trp360Ter) rs796052644
NM_172107.4(KCNQ2):c.1086C>G (p.Tyr362Ter) rs747376305
NM_172107.4(KCNQ2):c.1089C>G (p.Tyr363Ter) rs1185859533
NM_172107.4(KCNQ2):c.1089del (p.Tyr362_Tyr363insTer)
NM_172107.4(KCNQ2):c.1093C>T (p.Arg365Ter)
NM_172107.4(KCNQ2):c.1113del (p.Met371fs) rs2145679115
NM_172107.4(KCNQ2):c.1114dup (p.Tyr372fs) rs2145679099
NM_172107.4(KCNQ2):c.1117dup (p.Ser373fs) rs1600731888
NM_172107.4(KCNQ2):c.1118+2T>C rs886042605
NM_172107.4(KCNQ2):c.1118+2T>G rs886042605
NM_172107.4(KCNQ2):c.1140_1141del (p.Ala381fs)
NM_172107.4(KCNQ2):c.1141del (p.Ala381fs)
NM_172107.4(KCNQ2):c.1149-1G>T rs1600714727
NM_172107.4(KCNQ2):c.1149-2A>G rs2080696874
NM_172107.4(KCNQ2):c.1154del (p.Ile385fs) rs2145637609
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs) rs796052657
NM_172107.4(KCNQ2):c.1168C>T (p.Gln390Ter) rs2145637412
NM_172107.4(KCNQ2):c.1192_1193del (p.Lys398fs) rs118192222
NM_172107.4(KCNQ2):c.119_120del (p.Leu40fs) rs2145921876
NM_172107.4(KCNQ2):c.1217+1G>T rs2080693649
NM_172107.4(KCNQ2):c.1217+2_1217+3delinsAG rs2145636962
NM_172107.4(KCNQ2):c.1229del (p.Pro410fs) rs886041339
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1273_1274del (p.Leu425fs)
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_172107.4(KCNQ2):c.1342del (p.Arg448fs) rs2145557228
NM_172107.4(KCNQ2):c.1356dup (p.Lys453fs) rs2080245264
NM_172107.4(KCNQ2):c.135del (p.Glu46fs)
NM_172107.4(KCNQ2):c.1375C>T (p.Gln459Ter) rs2145556764
NM_172107.4(KCNQ2):c.1381C>T (p.Gln461Ter) rs267606051
NM_172107.4(KCNQ2):c.1388_1389del (p.Val463fs) rs878855236
NM_172107.4(KCNQ2):c.1403dup (p.Ser468fs)
NM_172107.4(KCNQ2):c.1411C>T (p.Gln471Ter)
NM_172107.4(KCNQ2):c.1424_1433del (p.Asp475fs) rs1601573302
NM_172107.4(KCNQ2):c.1444A>T (p.Lys482Ter) rs2080240053
NM_172107.4(KCNQ2):c.144del (p.Lys49fs) rs1555881809
NM_172107.4(KCNQ2):c.144dup (p.Lys49fs) rs1555881809
NM_172107.4(KCNQ2):c.1452G>A (p.Trp484Ter) rs2080239750
NM_172107.4(KCNQ2):c.1452dup (p.Ser485fs) rs2080239833
NM_172107.4(KCNQ2):c.1480C>T (p.Gln494Ter) rs2145555670
NM_172107.4(KCNQ2):c.1520C>A (p.Ser507Ter)
NM_172107.4(KCNQ2):c.1525+1G>A rs118192228
NM_172107.4(KCNQ2):c.1525+2T>C
NM_172107.4(KCNQ2):c.1528del (p.Ala510fs) rs2080213813
NM_172107.4(KCNQ2):c.1532dup (p.Ser511fs)
NM_172107.4(KCNQ2):c.1534del (p.Leu512fs)
NM_172107.4(KCNQ2):c.1540G>T (p.Gly514Ter) rs772669887
NM_172107.4(KCNQ2):c.1558_1561dup (p.Lys521fs) rs2145548219
NM_172107.4(KCNQ2):c.1601del (p.Pro534fs)
NM_172107.4(KCNQ2):c.1621A>G (p.Arg541Gly) rs1555853971
NM_172107.4(KCNQ2):c.1631+2T>C rs2145547234
NM_172107.4(KCNQ2):c.1632-1G>A rs118192233
NM_172107.4(KCNQ2):c.1632-1G>T rs118192233
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.1658G>A (p.Arg553Gln) rs118192234
NM_172107.4(KCNQ2):c.1663T>C (p.Phe555Leu)
NM_172107.4(KCNQ2):c.1665C>G (p.Phe555Leu)
NM_172107.4(KCNQ2):c.1666A>G (p.Lys556Glu) rs1555853593
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.1679G>A (p.Arg560Gln) rs1057517919
NM_172107.4(KCNQ2):c.1680dup (p.Pro561fs) rs1601566621
NM_172107.4(KCNQ2):c.1682C>T (p.Pro561Leu) rs796052652
NM_172107.4(KCNQ2):c.1684T>A (p.Tyr562Asn)
NM_172107.4(KCNQ2):c.1686C>G (p.Tyr562Ter) rs1057520773
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.4(KCNQ2):c.1688A>G (p.Asp563Gly) rs2080189052
NM_172107.4(KCNQ2):c.1689C>A (p.Asp563Glu)
NM_172107.4(KCNQ2):c.1692_1700del (p.Met565_Val567del)
NM_172107.4(KCNQ2):c.1708C>T (p.Gln570Ter) rs2080188103
NM_172107.4(KCNQ2):c.1720G>A (p.Gly574Ser) rs2080187424
NM_172107.4(KCNQ2):c.1720_1726dup (p.Leu576fs)
NM_172107.4(KCNQ2):c.1727_1731dup (p.Met578fs)
NM_172107.4(KCNQ2):c.1734G>A (p.Met578Ile) rs796052655
NM_172107.4(KCNQ2):c.1741C>G (p.Arg581Gly) rs118192236
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro) rs796052656
NM_172107.4(KCNQ2):c.1764-6C>A rs118192239
NM_172107.4(KCNQ2):c.1771C>T (p.Gln591Ter)
NM_172107.4(KCNQ2):c.1865G>C (p.Arg622Pro)
NM_172107.4(KCNQ2):c.1872del (p.Lys625fs) rs1568864658
NM_172107.4(KCNQ2):c.1873A>T (p.Lys625Ter)
NM_172107.4(KCNQ2):c.1887+1G>T rs796052670
NM_172107.4(KCNQ2):c.1903AAG[1] (p.Lys636del) rs2079980257
NM_172107.4(KCNQ2):c.1918del (p.Leu640fs)
NM_172107.4(KCNQ2):c.1935dup (p.Gln646fs)
NM_172107.4(KCNQ2):c.1955del (p.Pro652fs)
NM_172107.4(KCNQ2):c.1955dup (p.Thr653fs)
NM_172107.4(KCNQ2):c.1956del (p.Thr653fs) rs118192242
NM_172107.4(KCNQ2):c.195_196del (p.Lys66fs) rs2145921462
NM_172107.4(KCNQ2):c.1966del (p.Glu656fs) rs2145488506
NM_172107.4(KCNQ2):c.1999_2377del (p.Ala667fs)
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.4(KCNQ2):c.1A>T (p.Met1Leu)
NM_172107.4(KCNQ2):c.2032del (p.Glu678fs) rs2145487908
NM_172107.4(KCNQ2):c.2036_2052del (p.His679fs)
NM_172107.4(KCNQ2):c.2045_2046insT (p.Arg682fs)
NM_172107.4(KCNQ2):c.204del (p.Lys69fs) rs118192188
NM_172107.4(KCNQ2):c.204dup (p.Lys69fs) rs118192188
NM_172107.4(KCNQ2):c.2068del (p.Val690fs) rs2079972258
NM_172107.4(KCNQ2):c.2077del (p.Ser693fs)
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs) rs1555850842
NM_172107.4(KCNQ2):c.2127del (p.Val710fs) rs118192244
NM_172107.4(KCNQ2):c.2154G>A (p.Trp718Ter)
NM_172107.4(KCNQ2):c.216dup (p.Phe73fs) rs2145921332
NM_172107.4(KCNQ2):c.2196del (p.Val733fs)
NM_172107.4(KCNQ2):c.2204del (p.Asp735fs) rs2145486022
NM_172107.4(KCNQ2):c.223del (p.Arg75fs) rs2145921283
NM_172107.4(KCNQ2):c.2242del (p.His748fs)
NM_172107.4(KCNQ2):c.2245G>T (p.Glu749Ter) rs796052658
NM_172107.4(KCNQ2):c.2276dup (p.Asn759fs) rs2079962041
NM_172107.4(KCNQ2):c.2278del (p.Arg760fs) rs1555850590
NM_172107.4(KCNQ2):c.227dup (p.Leu77fs)
NM_172107.4(KCNQ2):c.2305G>T (p.Glu769Ter) rs2145484794
NM_172107.4(KCNQ2):c.2315del (p.Pro772fs) rs2079959227
NM_172107.4(KCNQ2):c.2326_2327delinsA (p.Pro776fs) rs1601542702
NM_172107.4(KCNQ2):c.232C>T (p.Gln78Ter) rs867848081
NM_172107.4(KCNQ2):c.2339del (p.Asn780fs) rs2145484269
NM_172107.4(KCNQ2):c.2361_2364del (p.Ile788fs)
NM_172107.4(KCNQ2):c.2361dup (p.Ile788fs) rs1601542417
NM_172107.4(KCNQ2):c.2399del (p.Arg800fs)
NM_172107.4(KCNQ2):c.2418del (p.Ser806fs) rs2145483403
NM_172107.4(KCNQ2):c.2486_2487del (p.Lys829fs) rs2079949302
NM_172107.4(KCNQ2):c.2533del (p.Leu845fs) rs2145482327
NM_172107.4(KCNQ2):c.2568_2574del (p.Thr857fs) rs2145481803
NM_172107.4(KCNQ2):c.2599_2603dup (p.Arg871fs) rs1555850151
NM_172107.4(KCNQ2):c.2607del (p.Arg871fs)
NM_172107.4(KCNQ2):c.272G>A (p.Trp91Ter)
NM_172107.4(KCNQ2):c.273G>A (p.Trp91Ter) rs2082233410
NM_172107.4(KCNQ2):c.285C>A (p.Tyr95Ter) rs1555881741
NM_172107.4(KCNQ2):c.2T>A (p.Met1Lys) rs118192186
NM_172107.4(KCNQ2):c.2T>C (p.Met1Thr) rs118192186
NM_172107.4(KCNQ2):c.308T>A (p.Val103Asp) rs2145789820
NM_172107.4(KCNQ2):c.315del (p.Cys106fs)
NM_172107.4(KCNQ2):c.319C>T (p.Leu107Phe) rs864321712
NM_172107.4(KCNQ2):c.329_332del (p.Ser110fs) rs1064796151
NM_172107.4(KCNQ2):c.330del (p.Val111fs)
NM_172107.4(KCNQ2):c.330dup (p.Val111fs)
NM_172107.4(KCNQ2):c.333_334del (p.Ser113fs) rs796052663
NM_172107.4(KCNQ2):c.33C>A (p.Tyr11Ter) rs2082240394
NM_172107.4(KCNQ2):c.340A>G (p.Thr114Ala) rs1057516076
NM_172107.4(KCNQ2):c.354T>G (p.Tyr118Ter) rs2145789339
NM_172107.4(KCNQ2):c.363_372del (p.Ser121fs) rs2145789182
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.387+5G>A rs2081437856
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met) rs1600789325
NM_172107.4(KCNQ2):c.3G>A (p.Met1Ile) rs866273848
NM_172107.4(KCNQ2):c.418_421del (p.Glu140fs)
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.432del (p.Ile145fs) rs2145779418
NM_172107.4(KCNQ2):c.437G>A (p.Trp146Ter) rs2145779397
NM_172107.4(KCNQ2):c.439del (p.Ala147fs) rs1555873981
NM_172107.4(KCNQ2):c.446_459del (p.Gly149fs)
NM_172107.4(KCNQ2):c.459del (p.Tyr154fs) rs2145779218
NM_172107.4(KCNQ2):c.471G>A (p.Trp157Ter) rs1057516079
NM_172107.4(KCNQ2):c.477del (p.Arg160fs) rs2081378550
NM_172107.4(KCNQ2):c.493dup (p.Arg165fs) rs2145778884
NM_172107.4(KCNQ2):c.523G>T (p.Val175Leu)
NM_172107.4(KCNQ2):c.545T>C (p.Val182Ala)
NM_172107.4(KCNQ2):c.550del (p.Ala184fs)
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.562del (p.Gln188fs)
NM_172107.4(KCNQ2):c.578C>T (p.Ala193Val) rs796052619
NM_172107.4(KCNQ2):c.583T>C (p.Ser195Pro) rs796052620
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val) rs118192199
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.4(KCNQ2):c.605dup (p.Leu203fs)
NM_172107.4(KCNQ2):c.610del (p.Gln204fs) rs2145775420
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln) rs118192200
NM_172107.4(KCNQ2):c.622A>G (p.Met208Val) rs118192201
NM_172107.4(KCNQ2):c.626T>C (p.Ile209Thr) rs1600785769
NM_172107.4(KCNQ2):c.626T>G (p.Ile209Ser) rs1600785769
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys) rs796052626
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172107.4(KCNQ2):c.635A>C (p.Asp212Ala) rs118192202
NM_172107.4(KCNQ2):c.635A>G (p.Asp212Gly) rs118192202
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.4(KCNQ2):c.641G>A (p.Arg214Gln) rs1057518555
NM_172107.4(KCNQ2):c.644del (p.Gly215fs) rs2145774901
NM_172107.4(KCNQ2):c.649A>G (p.Thr217Ala) rs1057516089
NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)
NM_172107.4(KCNQ2):c.652T>C (p.Trp218Arg)
NM_172107.4(KCNQ2):c.653G>A (p.Trp218Ter) rs2145774742
NM_172107.4(KCNQ2):c.654dup (p.Lys219fs)
NM_172107.4(KCNQ2):c.658C>A (p.Leu220Met)
NM_172107.4(KCNQ2):c.667T>C (p.Ser223Pro) rs2081358991
NM_172107.4(KCNQ2):c.668C>T (p.Ser223Phe) rs2145774638
NM_172107.4(KCNQ2):c.684C>A (p.His228Gln) rs118192204
NM_172107.4(KCNQ2):c.686G>T (p.Ser229Ile) rs2145774465
NM_172107.4(KCNQ2):c.687del (p.Ser229fs) rs1555873656
NM_172107.4(KCNQ2):c.699_709del (p.Thr234fs) rs2145736578
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
NM_172107.4(KCNQ2):c.718T>G (p.Phe240Val)
NM_172107.4(KCNQ2):c.721_724del (p.Leu241fs) rs2081191595
NM_172107.4(KCNQ2):c.722T>C (p.Leu241Pro) rs2145736444
NM_172107.4(KCNQ2):c.727C>G (p.Leu243Val) rs118192205
NM_172107.4(KCNQ2):c.727C>T (p.Leu243Phe) rs118192205
NM_172107.4(KCNQ2):c.734T>C (p.Leu245Pro) rs2145736248
NM_172107.4(KCNQ2):c.737_748del (p.Ala246_Leu249del)
NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp) rs74315392
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.4(KCNQ2):c.743_751del (p.Phe248_Val250del)
NM_172107.4(KCNQ2):c.746T>C (p.Leu249Pro) rs2081190512
NM_172107.4(KCNQ2):c.748G>T (p.Val250Leu) rs2081190344
NM_172107.4(KCNQ2):c.749T>C (p.Val250Ala) rs118192206
NM_172107.4(KCNQ2):c.753C>G (p.Tyr251Ter) rs2145735982
NM_172107.4(KCNQ2):c.767G>T (p.Gly256Val) rs1371722284
NM_172107.4(KCNQ2):c.774C>G (p.Asn258Lys) rs770187706
NM_172107.4(KCNQ2):c.778C>T (p.His260Tyr) rs1555871832
NM_172107.4(KCNQ2):c.780_781dup (p.Phe261fs) rs1568932480
NM_172107.4(KCNQ2):c.783_787dup (p.Thr263fs) rs1600766500
NM_172107.4(KCNQ2):c.788C>T (p.Thr263Ile) rs1568932462
NM_172107.4(KCNQ2):c.792C>A (p.Tyr264Ter) rs143399744
NM_172107.4(KCNQ2):c.792C>G (p.Tyr264Ter) rs143399744
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.794_795insATCC (p.Asp266fs) rs2081187965
NM_172107.4(KCNQ2):c.796G>C (p.Asp266His)
NM_172107.4(KCNQ2):c.797A>G (p.Asp266Gly) rs2081187692
NM_172107.4(KCNQ2):c.7del (p.Gln3fs)
NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe) rs1057516094
NM_172107.4(KCNQ2):c.807G>A (p.Trp269Ter) rs118192208
NM_172107.4(KCNQ2):c.817-10G>A rs375363057
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.4(KCNQ2):c.827C>A (p.Thr276Asn) rs1057516095
NM_172107.4(KCNQ2):c.829A>C (p.Thr277Pro) rs1555870554
NM_172107.4(KCNQ2):c.830C>G (p.Thr277Ser)
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728
NM_172107.4(KCNQ2):c.838T>C (p.Tyr280His) rs2081102604
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) rs794727813
NM_172107.4(KCNQ2):c.841G>C (p.Gly281Arg) rs794727813
NM_172107.4(KCNQ2):c.845del (p.Asp282fs) rs1568927747
NM_172107.4(KCNQ2):c.846C>A (p.Asp282Glu)
NM_172107.4(KCNQ2):c.848del (p.Lys283fs) rs1555870506
NM_172107.4(KCNQ2):c.850T>C (p.Tyr284His)
NM_172107.4(KCNQ2):c.853C>T (p.Pro285Ser) rs2081101244
NM_172107.4(KCNQ2):c.856del (p.Gln286fs) rs1555870470
NM_172107.4(KCNQ2):c.856dup (p.Gln286fs) rs1555870470
NM_172107.4(KCNQ2):c.868G>A (p.Gly290Ser) rs1057516098
NM_172107.4(KCNQ2):c.880dup (p.Ala294fs)
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_172107.4(KCNQ2):c.883del (p.Ala295fs) rs2145718887
NM_172107.4(KCNQ2):c.89_99del (p.Gly30fs)
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
NM_172107.4(KCNQ2):c.908C>G (p.Ser303Cys) rs2081098548
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_172107.4(KCNQ2):c.915C>G (p.Phe305Leu) rs775918190
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr) rs74315390
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172107.4(KCNQ2):c.920T>C (p.Leu307Pro)
NM_172107.4(KCNQ2):c.923C>T (p.Pro308Leu)
NM_172107.4(KCNQ2):c.926C>T (p.Ala309Val)
NM_172107.4(KCNQ2):c.927+1G>C rs1555870346
NM_172107.4(KCNQ2):c.927+1G>T rs1555870346
NM_172107.4(KCNQ2):c.927+2T>C rs2081097112
NM_172107.4(KCNQ2):c.928-7_933del
NM_172107.4(KCNQ2):c.937G>A (p.Gly313Arg)
NM_172107.4(KCNQ2):c.943G>A (p.Gly315Arg)
NM_172107.4(KCNQ2):c.967del (p.Gln323fs) rs2145712498
NM_172107.4(KCNQ2):c.987del (p.Phe329fs)
NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp) rs118192215
NM_172107.4(KCNQ2):c.998G>A (p.Arg333Gln) rs118192216

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