ClinVar Miner

List of variants in gene KCNQ2 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 636
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974 0.00220
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=) rs369438374 0.00046
NM_172107.4(KCNQ2):c.795G>A (p.Ala265=) rs148654588 0.00037
NM_172107.4(KCNQ2):c.1814C>G (p.Thr605Ser) rs751334184 0.00013
NM_172107.4(KCNQ2):c.1301+7C>T rs374877247 0.00011
NM_172107.4(KCNQ2):c.2252C>T (p.Ser751Leu) rs774002673 0.00011
NM_172107.4(KCNQ2):c.1294C>T (p.Arg432Cys) rs368720575 0.00010
NM_172107.4(KCNQ2):c.2081G>C (p.Ser694Thr) rs769558746 0.00007
NM_172107.4(KCNQ2):c.2119G>A (p.Ala707Thr) rs543477138 0.00007
NM_172107.4(KCNQ2):c.2572G>A (p.Gly858Ser) rs756609768 0.00006
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=) rs770187706 0.00006
NM_172107.4(KCNQ2):c.2087C>T (p.Thr696Met) rs570139975 0.00005
NM_172107.4(KCNQ2):c.1259C>T (p.Pro420Leu) rs139164500 0.00004
NM_172107.4(KCNQ2):c.1301+5C>T rs200872349 0.00004
NM_172107.4(KCNQ2):c.1347C>T (p.Gly449=) rs771845478 0.00004
NM_172107.4(KCNQ2):c.1887+5G>A rs777916008 0.00004
NM_172107.4(KCNQ2):c.1888-3C>T rs772971971 0.00004
NM_172107.4(KCNQ2):c.190G>T (p.Ala64Ser) rs780110473 0.00004
NM_172107.4(KCNQ2):c.1940G>A (p.Arg647Gln) rs765583552 0.00004
NM_172107.4(KCNQ2):c.2025C>G (p.Asp675Glu) rs553337046 0.00004
NM_172107.4(KCNQ2):c.2056A>G (p.Ile686Val) rs558926802 0.00004
NM_172107.4(KCNQ2):c.2122C>G (p.Pro708Ala) rs767485841 0.00004
NM_172107.4(KCNQ2):c.2173C>T (p.Arg725Cys) rs768284828 0.00004
NM_172107.4(KCNQ2):c.2281G>T (p.Ala761Ser) rs587780366 0.00004
NM_172107.4(KCNQ2):c.2315C>T (p.Pro772Leu) rs774206764 0.00004
NM_172107.4(KCNQ2):c.1301+6G>A rs377304987 0.00003
NM_172107.4(KCNQ2):c.1405G>A (p.Ala469Thr) rs781778855 0.00003
NM_172107.4(KCNQ2):c.1483G>C (p.Ala495Pro) rs200251507 0.00003
NM_172107.4(KCNQ2):c.2072G>A (p.Arg691His) rs773194884 0.00003
NM_172107.4(KCNQ2):c.2171C>T (p.Pro724Leu) rs761544880 0.00003
NM_172107.4(KCNQ2):c.2260G>A (p.Ala754Thr) rs773822234 0.00003
NM_172107.4(KCNQ2):c.691-5C>T rs886056921 0.00003
NM_172107.4(KCNQ2):c.1121C>T (p.Ser374Leu) rs777940990 0.00002
NM_172107.4(KCNQ2):c.1352C>T (p.Ala451Val) rs774027338 0.00002
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val) rs375264483 0.00002
NM_172107.4(KCNQ2):c.1526A>C (p.Glu509Ala) rs959219090 0.00002
NM_172107.4(KCNQ2):c.1764-8C>A rs776972460 0.00002
NM_172107.4(KCNQ2):c.1811G>A (p.Arg604His) rs1203495492 0.00002
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=) rs552807375 0.00002
NM_172107.4(KCNQ2):c.2299C>T (p.Arg767Trp) rs755823361 0.00002
NM_172107.4(KCNQ2):c.2312C>T (p.Thr771Ile) rs759258191 0.00002
NM_172107.4(KCNQ2):c.2316G>A (p.Pro772=) rs587780367 0.00002
NM_172107.4(KCNQ2):c.2543C>T (p.Pro848Leu) rs377633507 0.00002
NM_172107.4(KCNQ2):c.2546G>T (p.Cys849Phe) rs768731672 0.00002
NM_172107.4(KCNQ2):c.290C>T (p.Ala97Val) rs1131691879 0.00002
NM_172107.4(KCNQ2):c.1024-3C>T rs2080907472 0.00001
NM_172107.4(KCNQ2):c.1024-5C>T rs762121418 0.00001
NM_172107.4(KCNQ2):c.104C>G (p.Thr35Ser) rs984632499 0.00001
NM_172107.4(KCNQ2):c.1099G>A (p.Val367Ile) rs149523683 0.00001
NM_172107.4(KCNQ2):c.1103C>A (p.Thr368Asn) rs900170305 0.00001
NM_172107.4(KCNQ2):c.1111A>G (p.Met371Val) rs1038643289 0.00001
NM_172107.4(KCNQ2):c.1118+5C>T rs903746022 0.00001
NM_172107.4(KCNQ2):c.1138G>A (p.Gly380Arg) rs764614789 0.00001
NM_172107.4(KCNQ2):c.1209C>T (p.Leu403=) rs752280961 0.00001
NM_172107.4(KCNQ2):c.1210G>A (p.Ala404Thr) rs767250354 0.00001
NM_172107.4(KCNQ2):c.1216A>G (p.Arg406Gly) rs1240338507 0.00001
NM_172107.4(KCNQ2):c.1218-18T>G rs908502131 0.00001
NM_172107.4(KCNQ2):c.1223A>T (p.Asp408Val) rs1202656129 0.00001
NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu) rs752579642 0.00001
NM_172107.4(KCNQ2):c.1232C>T (p.Pro411Leu) rs754682495 0.00001
NM_172107.4(KCNQ2):c.1270C>T (p.Pro424Ser) rs748120886 0.00001
NM_172107.4(KCNQ2):c.1291G>A (p.Gly431Arg) rs746853951 0.00001
NM_172107.4(KCNQ2):c.1295G>A (p.Arg432His) rs758074713 0.00001
NM_172107.4(KCNQ2):c.1324C>T (p.Arg442Cys) rs1354411692 0.00001
NM_172107.4(KCNQ2):c.1368G>A (p.Gly456=) rs748785128 0.00001
NM_172107.4(KCNQ2):c.1373C>T (p.Pro458Leu) rs1206195455 0.00001
NM_172107.4(KCNQ2):c.1382A>C (p.Gln461Pro) rs1057516116 0.00001
NM_172107.4(KCNQ2):c.1394G>A (p.Arg465Gln) rs1459078042 0.00001
NM_172107.4(KCNQ2):c.1408G>A (p.Asp470Asn) rs751907059 0.00001
NM_172107.4(KCNQ2):c.1477C>T (p.Arg493Cys) rs759338332 0.00001
NM_172107.4(KCNQ2):c.1486T>A (p.Phe496Ile) rs762518963 0.00001
NM_172107.4(KCNQ2):c.1489C>T (p.Arg497Cys) rs540461827 0.00001
NM_172107.4(KCNQ2):c.149G>A (p.Arg50His) rs1064797286 0.00001
NM_172107.4(KCNQ2):c.1504G>A (p.Ala502Thr) rs540103798 0.00001
NM_172107.4(KCNQ2):c.1511G>A (p.Arg504Gln) rs758575791 0.00001
NM_172107.4(KCNQ2):c.1526-2dup rs1386754191 0.00001
NM_172107.4(KCNQ2):c.1526-3C>T rs568408012 0.00001
NM_172107.4(KCNQ2):c.1540G>A (p.Gly514Arg) rs772669887 0.00001
NM_172107.4(KCNQ2):c.1573T>A (p.Cys525Ser) rs371162714 0.00001
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys) rs897976020 0.00001
NM_172107.4(KCNQ2):c.158T>C (p.Ile53Thr) rs1038663676 0.00001
NM_172107.4(KCNQ2):c.1612G>A (p.Val538Ile) rs1186571905 0.00001
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NM_172107.4(KCNQ2):c.1631+5G>A rs1178354607 0.00001
NM_172107.4(KCNQ2):c.1633G>A (p.Val545Ile) rs757608181 0.00001
NM_172107.4(KCNQ2):c.1640G>A (p.Arg547Gln) rs760984494 0.00001
NM_172107.4(KCNQ2):c.169C>T (p.Pro57Ser) rs1276943039 0.00001
NM_172107.4(KCNQ2):c.1777G>A (p.Val593Met) rs372976131 0.00001
NM_172107.4(KCNQ2):c.1793C>T (p.Ala598Val) rs746079131 0.00001
NM_172107.4(KCNQ2):c.1799C>T (p.Thr600Met) rs1203090297 0.00001
NM_172107.4(KCNQ2):c.1800G>A (p.Thr600=) rs587780368 0.00001
NM_172107.4(KCNQ2):c.1810C>T (p.Arg604Cys) rs780942181 0.00001
NM_172107.4(KCNQ2):c.1823C>T (p.Pro608Leu) rs140217688 0.00001
NM_172107.4(KCNQ2):c.1864C>T (p.Arg622Trp) rs772405187 0.00001
NM_172107.4(KCNQ2):c.1870G>A (p.Gly624Arg) rs771211103 0.00001
NM_172107.4(KCNQ2):c.1898T>C (p.Met633Thr) rs777332271 0.00001
NM_172107.4(KCNQ2):c.1937A>G (p.Gln646Arg) rs766755499 0.00001
NM_172107.4(KCNQ2):c.1939C>T (p.Arg647Trp) rs773450069 0.00001
NM_172107.4(KCNQ2):c.1966G>A (p.Glu656Lys) rs545544936 0.00001
NM_172107.4(KCNQ2):c.1969G>A (p.Ala657Thr) rs780679486 0.00001
NM_172107.4(KCNQ2):c.1991C>T (p.Pro664Leu) rs765493484 0.00001
NM_172107.4(KCNQ2):c.2000C>T (p.Ala667Val) rs563291132 0.00001
NM_172107.4(KCNQ2):c.2019G>A (p.Pro673=) rs769646940 0.00001
NM_172107.4(KCNQ2):c.2029C>T (p.Arg677Trp) rs371851085 0.00001
NM_172107.4(KCNQ2):c.2052C>T (p.Gly684=) rs764444302 0.00001
NM_172107.4(KCNQ2):c.2068G>A (p.Val690Met) rs373902907 0.00001
NM_172107.4(KCNQ2):c.2071C>T (p.Arg691Cys) rs1223286018 0.00001
NM_172107.4(KCNQ2):c.2089G>A (p.Gly697Ser) rs1319597206 0.00001
NM_172107.4(KCNQ2):c.2105C>T (p.Ser702Leu) rs1555850884 0.00001
NM_172107.4(KCNQ2):c.2108C>T (p.Ala703Val) rs779430808 0.00001
NM_172107.4(KCNQ2):c.2114C>T (p.Pro705Leu) rs779609892 0.00001
NM_172107.4(KCNQ2):c.2117C>A (p.Ala706Asp) rs980128101 0.00001
NM_172107.4(KCNQ2):c.2120C>T (p.Ala707Val) rs753033741 0.00001
NM_172107.4(KCNQ2):c.2179G>A (p.Gly727Ser) rs368549458 0.00001
NM_172107.4(KCNQ2):c.2188A>G (p.Thr730Ala) rs1441250745 0.00001
NM_172107.4(KCNQ2):c.2194C>T (p.Pro732Ser) rs749597397 0.00001
NM_172107.4(KCNQ2):c.2209G>A (p.Gly737Ser) rs755013341 0.00001
NM_172107.4(KCNQ2):c.2228C>T (p.Pro743Leu) rs757187432 0.00001
NM_172107.4(KCNQ2):c.2234C>T (p.Pro745Leu) rs1057518569 0.00001
NM_172107.4(KCNQ2):c.2240C>T (p.Ala747Val) rs1244838198 0.00001
NM_172107.4(KCNQ2):c.2278C>T (p.Arg760Cys) rs1449467609 0.00001
NM_172107.4(KCNQ2):c.2279G>A (p.Arg760His) rs758530960 0.00001
NM_172107.4(KCNQ2):c.2280C>T (p.Arg760=) rs753696924 0.00001
NM_172107.4(KCNQ2):c.22G>A (p.Gly8Ser) rs769045070 0.00001
NM_172107.4(KCNQ2):c.2300G>A (p.Arg767Gln) rs752551225 0.00001
NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser) rs748400155 0.00001
NM_172107.4(KCNQ2):c.2332G>A (p.Glu778Lys) rs1264858438 0.00001
NM_172107.4(KCNQ2):c.2344C>T (p.Arg782Trp) rs745990385 0.00001
NM_172107.4(KCNQ2):c.2345G>A (p.Arg782Gln) rs756083804 0.00001
NM_172107.4(KCNQ2):c.2358G>A (p.Thr786=) rs559610397 0.00001
NM_172107.4(KCNQ2):c.2445T>G (p.Asp815Glu) rs371844101 0.00001
NM_172107.4(KCNQ2):c.2464G>A (p.Ala822Thr) rs751425807 0.00001
NM_172107.4(KCNQ2):c.2465C>T (p.Ala822Val) rs796052661 0.00001
NM_172107.4(KCNQ2):c.2504C>T (p.Ala835Val) rs754310883 0.00001
NM_172107.4(KCNQ2):c.2536T>C (p.Cys846Arg) rs2079947062 0.00001
NM_172107.4(KCNQ2):c.2548G>A (p.Gly850Arg) rs779986547 0.00001
NM_172107.4(KCNQ2):c.2555C>T (p.Pro852Leu) rs745508762 0.00001
NM_172107.4(KCNQ2):c.2564C>T (p.Ser855Leu) rs12481082 0.00001
NM_172107.4(KCNQ2):c.2611A>G (p.Arg871Gly) rs1006613253 0.00001
NM_172107.4(KCNQ2):c.322G>A (p.Val108Met) rs749164961 0.00001
NM_172107.4(KCNQ2):c.351G>T (p.Glu117Asp) rs1215026765 0.00001
NM_172107.4(KCNQ2):c.415G>A (p.Val139Met) rs773083197 0.00001
NM_172107.4(KCNQ2):c.485A>G (p.Lys162Arg) rs754250122 0.00001
NM_172107.4(KCNQ2):c.529A>G (p.Ile177Val) rs542553752 0.00001
NM_172107.4(KCNQ2):c.58C>G (p.Leu20Val) rs868492349 0.00001
NM_172107.4(KCNQ2):c.712A>G (p.Ile238Val) rs747050726 0.00001
NM_172107.4(KCNQ2):c.77G>A (p.Gly26Glu) rs1447528231 0.00001
NM_172107.4(KCNQ2):c.7C>G (p.Gln3Glu) rs868642147 0.00001
NM_172107.4(KCNQ2):c.88G>A (p.Gly30Ser) rs915805727 0.00001
NM_172107.4(KCNQ2):c.921G>A (p.Leu307=) rs539406802 0.00001
NC_000020.10:g.(?_62037637)_(62038459_?)del
NC_000020.10:g.(?_62044783)_(62103816_?)dup
NC_000020.10:g.(?_62050952)_(62051045_?)del
NC_000020.10:g.(?_62050962)_(62078200_?)dup
NC_000020.10:g.(?_62059700)_(62078210_?)dup
NC_000020.10:g.(?_62070931)_(62073904_?)dup
NC_000020.11:g.(?_63424157)_(63446857_?)dup
NM_172107.4(KCNQ2):c.1016T>C (p.Leu339Pro)
NM_172107.4(KCNQ2):c.1022A>G (p.Gln341Arg) rs2081071796
NM_172107.4(KCNQ2):c.1023+2dup
NM_172107.4(KCNQ2):c.1023+6T>C
NM_172107.4(KCNQ2):c.1034G>T (p.Arg345Ile)
NM_172107.4(KCNQ2):c.1043C>T (p.Ala348Val) rs1568916986
NM_172107.4(KCNQ2):c.1046C>A (p.Thr349Asn) rs2080906453
NM_172107.4(KCNQ2):c.1049A>G (p.Asn350Ser) rs772800738
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_172107.4(KCNQ2):c.1063G>T (p.Asp355Tyr) rs2080905348
NM_172107.4(KCNQ2):c.1065C>G (p.Asp355Glu) rs200395340
NM_172107.4(KCNQ2):c.1067T>C (p.Leu356Pro) rs1057518772
NM_172107.4(KCNQ2):c.1070A>G (p.His357Arg) rs926865634
NM_172107.4(KCNQ2):c.1072T>C (p.Ser358Pro) rs2080904614
NM_172107.4(KCNQ2):c.1075A>G (p.Thr359Ala) rs1064793334
NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met) rs118192219
NM_172107.4(KCNQ2):c.1078T>C (p.Trp360Arg) rs2080904141
NM_172107.4(KCNQ2):c.1088A>G (p.Tyr363Cys) rs794727935
NM_172107.4(KCNQ2):c.1099G>C (p.Val367Leu)
NM_172107.4(KCNQ2):c.1103C>G (p.Thr368Ser) rs900170305
NM_172107.4(KCNQ2):c.1108C>A (p.Pro370Thr) rs2080902130
NM_172107.4(KCNQ2):c.1109C>G (p.Pro370Arg) rs765394232
NM_172107.4(KCNQ2):c.1111A>C (p.Met371Leu) rs1038643289
NM_172107.4(KCNQ2):c.1113G>A (p.Met371Ile)
NM_172107.4(KCNQ2):c.1114T>C (p.Tyr372His) rs2145679082
NM_172107.4(KCNQ2):c.1118+18C>T rs2080900462
NM_172107.4(KCNQ2):c.1118+3A>G rs1057516112
NM_172107.4(KCNQ2):c.1118+4C>T rs2080901190
NM_172107.4(KCNQ2):c.1118+6G>A
NM_172107.4(KCNQ2):c.1118G>T (p.Ser373Ile) rs2145678974
NM_172107.4(KCNQ2):c.1119-8C>G rs1057523550
NM_172107.4(KCNQ2):c.1131A>C (p.Gln377His)
NM_172107.4(KCNQ2):c.1133C>G (p.Thr378Ser) rs1260593444
NM_172107.4(KCNQ2):c.1136A>T (p.Tyr379Phe) rs752773828
NM_172107.4(KCNQ2):c.113G>C (p.Gly38Ala)
NM_172107.4(KCNQ2):c.1142C>A (p.Ala381Asp) rs2145655065
NM_172107.4(KCNQ2):c.1148G>A (p.Arg383Lys)
NM_172107.4(KCNQ2):c.1149-3C>T rs1555860723
NM_172107.4(KCNQ2):c.1149-6_1149-5dup rs992228422
NM_172107.4(KCNQ2):c.1154T>A (p.Ile385Asn) rs1057519123
NM_172107.4(KCNQ2):c.1159C>G (p.Pro387Ala) rs747158839
NM_172107.4(KCNQ2):c.1160C>A (p.Pro387Gln)
NM_172107.4(KCNQ2):c.1168C>G (p.Gln390Glu)
NM_172107.4(KCNQ2):c.1172T>C (p.Leu391Pro) rs796052646
NM_172107.4(KCNQ2):c.1181T>C (p.Leu394Pro) rs2080695319
NM_172107.4(KCNQ2):c.1187A>G (p.Asn396Ser)
NM_172107.4(KCNQ2):c.1195A>G (p.Ser399Gly)
NM_172107.4(KCNQ2):c.1198A>G (p.Lys400Glu) rs796052647
NM_172107.4(KCNQ2):c.119T>C (p.Leu40Pro) rs2082237607
NM_172107.4(KCNQ2):c.1200A>G (p.Lys400=)
NM_172107.4(KCNQ2):c.1204G>A (p.Gly402Arg)
NM_172107.4(KCNQ2):c.1205G>A (p.Gly402Glu)
NM_172107.4(KCNQ2):c.1207C>G (p.Leu403Val) rs1166282198
NM_172107.4(KCNQ2):c.1211C>A (p.Ala404Asp) rs1060500601
NM_172107.4(KCNQ2):c.1217+3C>T
NM_172107.4(KCNQ2):c.1218-21_1218-18del
NM_172107.4(KCNQ2):c.1222G>C (p.Asp408His) rs2080560881
NM_172107.4(KCNQ2):c.122dup (p.Ile42fs) rs2082237543
NM_172107.4(KCNQ2):c.1232C>A (p.Pro411Gln) rs754682495
NM_172107.4(KCNQ2):c.1232C>G (p.Pro411Arg) rs754682495
NM_172107.4(KCNQ2):c.1238C>G (p.Pro413Arg) rs1270343938
NM_172107.4(KCNQ2):c.1241C>G (p.Ser414Cys) rs1555859111
NM_172107.4(KCNQ2):c.1242_1244del (p.Pro415del) rs2145615490
NM_172107.4(KCNQ2):c.1244C>A (p.Pro415Gln)
NM_172107.4(KCNQ2):c.1246A>G (p.Ser416Gly)
NM_172107.4(KCNQ2):c.1247+5G>A
NM_172107.4(KCNQ2):c.1247+6T>A
NM_172107.4(KCNQ2):c.1248T>C (p.Ser416=)
NM_172107.4(KCNQ2):c.1249A>C (p.Lys417Gln)
NM_172107.4(KCNQ2):c.1249A>G (p.Lys417Glu) rs2145588263
NM_172107.4(KCNQ2):c.1258C>T (p.Pro420Ser) rs2080406431
NM_172107.4(KCNQ2):c.1259C>A (p.Pro420Gln) rs139164500
NM_172107.4(KCNQ2):c.1259C>G (p.Pro420Arg) rs139164500
NM_172107.4(KCNQ2):c.1265G>A (p.Arg422Lys)
NM_172107.4(KCNQ2):c.1280G>A (p.Gly427Glu) rs1601590796
NM_172107.4(KCNQ2):c.1286G>A (p.Cys429Tyr) rs1601590761
NM_172107.4(KCNQ2):c.1286G>T (p.Cys429Phe) rs1601590761
NM_172107.4(KCNQ2):c.128C>T (p.Ala43Val) rs749554385
NM_172107.4(KCNQ2):c.129C>A (p.Ala43=) rs1317748215
NM_172107.4(KCNQ2):c.12G>C (p.Lys4Asn) rs776223064
NM_172107.4(KCNQ2):c.1301+3A>G
NM_172107.4(KCNQ2):c.1301+6G>T rs377304987
NM_172107.4(KCNQ2):c.1301+8G>T rs532111320
NM_172107.4(KCNQ2):c.1301G>A (p.Ser434Asn) rs2145587725
NM_172107.4(KCNQ2):c.1302-1G>C rs118192225
NM_172107.4(KCNQ2):c.1302-6G>C
NM_172107.4(KCNQ2):c.1321G>A (p.Asp441Asn)
NM_172107.4(KCNQ2):c.1322A>G (p.Asp441Gly)
NM_172107.4(KCNQ2):c.1325G>A (p.Arg442His)
NM_172107.4(KCNQ2):c.1333T>C (p.Ser445Pro) rs2080246296
NM_172107.4(KCNQ2):c.1343G>A (p.Arg448Gln) rs763968845
NM_172107.4(KCNQ2):c.1354G>A (p.Ala452Thr) rs2080245324
NM_172107.4(KCNQ2):c.1356C>T (p.Ala452=)
NM_172107.4(KCNQ2):c.1364A>G (p.Lys455Arg)
NM_172107.4(KCNQ2):c.1367G>A (p.Gly456Glu)
NM_172107.4(KCNQ2):c.136G>A (p.Glu46Lys)
NM_172107.4(KCNQ2):c.136G>C (p.Glu46Gln)
NM_172107.4(KCNQ2):c.1378G>A (p.Ala460Thr) rs1284566908
NM_172107.4(KCNQ2):c.1383G>T (p.Gln461His) rs1349137821
NM_172107.4(KCNQ2):c.1393C>T (p.Arg465Trp)
NM_172107.4(KCNQ2):c.1408G>C (p.Asp470His) rs751907059
NM_172107.4(KCNQ2):c.1409A>G (p.Asp470Gly)
NM_172107.4(KCNQ2):c.1410C>G (p.Asp470Glu)
NM_172107.4(KCNQ2):c.1414A>G (p.Ser472Gly)
NM_172107.4(KCNQ2):c.1420G>A (p.Glu474Lys)
NM_172107.4(KCNQ2):c.1423G>T (p.Asp475Tyr)
NM_172107.4(KCNQ2):c.1425C>A (p.Asp475Glu)
NM_172107.4(KCNQ2):c.1445A>G (p.Lys482Arg)
NM_172107.4(KCNQ2):c.1459G>C (p.Gly487Arg)
NM_172107.4(KCNQ2):c.1464C>G (p.Asp488Glu)
NM_172107.4(KCNQ2):c.1465C>G (p.Arg489Gly) rs775387876
NM_172107.4(KCNQ2):c.1466G>A (p.Arg489His)
NM_172107.4(KCNQ2):c.1471C>T (p.Arg491Trp) rs1251584590
NM_172107.4(KCNQ2):c.1474G>A (p.Ala492Thr)
NM_172107.4(KCNQ2):c.1490G>A (p.Arg497His) rs769414365
NM_172107.4(KCNQ2):c.1490G>T (p.Arg497Leu)
NM_172107.4(KCNQ2):c.1492A>G (p.Ile498Val) rs1601572937
NM_172107.4(KCNQ2):c.1498G>A (p.Gly500Ser) rs2080237946
NM_172107.4(KCNQ2):c.1499G>A (p.Gly500Asp)
NM_172107.4(KCNQ2):c.1502C>T (p.Ala501Val) rs1465109197
NM_172107.4(KCNQ2):c.1502_1503delinsTG (p.Ala501Val) rs2080237716
NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.1504G>T (p.Ala502Ser) rs540103798
NM_172107.4(KCNQ2):c.151G>A (p.Gly51Ser)
NM_172107.4(KCNQ2):c.151G>C (p.Gly51Arg)
NM_172107.4(KCNQ2):c.1525+4G>A
NM_172107.4(KCNQ2):c.1526-3C>A rs568408012
NM_172107.4(KCNQ2):c.1534C>T (p.Leu512Phe)
NM_172107.4(KCNQ2):c.1541G>A (p.Gly514Glu) rs1358495877
NM_172107.4(KCNQ2):c.1543G>C (p.Glu515Gln)
NM_172107.4(KCNQ2):c.1545G>T (p.Glu515Asp) rs117067974
NM_172107.4(KCNQ2):c.1559A>G (p.Asp520Gly)
NM_172107.4(KCNQ2):c.1566C>G (p.Ser522Arg) rs2145548165
NM_172107.4(KCNQ2):c.1575C>T (p.Cys525=)
NM_172107.4(KCNQ2):c.1579T>A (p.Phe527Ile)
NM_172107.4(KCNQ2):c.1592A>T (p.Asp531Val) rs1555854018
NM_172107.4(KCNQ2):c.1598C>A (p.Thr533Asn)
NM_172107.4(KCNQ2):c.1600C>T (p.Pro534Ser)
NM_172107.4(KCNQ2):c.1603G>A (p.Gly535Ser)
NM_172107.4(KCNQ2):c.1611A>T (p.Lys537Asn)
NM_172107.4(KCNQ2):c.1616G>A (p.Ser539Asn)
NM_172107.4(KCNQ2):c.1622G>A (p.Arg541Lys)
NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr) rs1555853970
NM_172107.4(KCNQ2):c.1624G>A (p.Ala542Thr)
NM_172107.4(KCNQ2):c.1625C>T (p.Ala542Val) rs796052648
NM_172107.4(KCNQ2):c.162_167dup (p.Ser55_Lys56insAsnSer)
NM_172107.4(KCNQ2):c.1630T>C (p.Cys544Arg) rs118192232
NM_172107.4(KCNQ2):c.1631G>C (p.Cys544Ser) rs1057518492
NM_172107.4(KCNQ2):c.1632-3C>A rs765708117
NM_172107.4(KCNQ2):c.1632-5T>A
NM_172107.4(KCNQ2):c.1632-6C>G rs570940951
NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr) rs886041860
NM_172107.4(KCNQ2):c.1638G>A (p.Met546Ile) rs2080191127
NM_172107.4(KCNQ2):c.1646T>C (p.Leu549Pro)
NM_172107.4(KCNQ2):c.1648G>C (p.Val550Leu) rs1375676594
NM_172107.4(KCNQ2):c.1651T>C (p.Ser551Pro) rs2080190604
NM_172107.4(KCNQ2):c.1655A>G (p.Lys552Arg) rs1555853613
NM_172107.4(KCNQ2):c.1673G>A (p.Ser558Asn) rs1601566660
NM_172107.4(KCNQ2):c.1676T>C (p.Leu559Pro)
NM_172107.4(KCNQ2):c.1679G>T (p.Arg560Leu)
NM_172107.4(KCNQ2):c.1682C>G (p.Pro561Arg) rs796052652
NM_172107.4(KCNQ2):c.1688_1689delinsCA (p.Asp563Ala)
NM_172107.4(KCNQ2):c.1690G>A (p.Val564Met)
NM_172107.4(KCNQ2):c.1695G>A (p.Met565Ile) rs2080188612
NM_172107.4(KCNQ2):c.1699G>A (p.Val567Ile) rs748571840
NM_172107.4(KCNQ2):c.16C>G (p.Arg6Gly)
NM_172107.4(KCNQ2):c.1704C>G (p.Ile568Met) rs144909985
NM_172107.4(KCNQ2):c.1729_1734dup (p.Asp577_Met578dup) rs1601566366
NM_172107.4(KCNQ2):c.173GCGCGGGCG[3] (p.Gly61_Gly63dup) rs1362316126
NM_172107.4(KCNQ2):c.1742G>C (p.Arg581Pro) rs118192235
NM_172107.4(KCNQ2):c.1754T>C (p.Leu585Pro) rs2080185796
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro) rs796052656
NM_172107.4(KCNQ2):c.1761C>T (p.Ser587=)
NM_172107.4(KCNQ2):c.1763+1576T>G rs62208003
NM_172107.4(KCNQ2):c.1763+2C>G
NM_172107.4(KCNQ2):c.1763+3A>G rs1601566237
NM_172107.4(KCNQ2):c.1763+4A>G rs2145541064
NM_172107.4(KCNQ2):c.1764-5G>A
NM_172107.4(KCNQ2):c.1769A>C (p.Asp590Ala) rs2145497758
NM_172107.4(KCNQ2):c.176C>T (p.Ala59Val)
NM_172107.4(KCNQ2):c.1777G>C (p.Val593Leu)
NM_172107.4(KCNQ2):c.1783C>T (p.Arg595Trp) rs1555851550
NM_172107.4(KCNQ2):c.1787G>C (p.Gly596Ala) rs2145497630
NM_172107.4(KCNQ2):c.1789C>G (p.Pro597Ala)
NM_172107.4(KCNQ2):c.179G>A (p.Gly60Asp)
NM_172107.4(KCNQ2):c.17G>C (p.Arg6Pro) rs866843916
NM_172107.4(KCNQ2):c.1814C>T (p.Thr605Ile) rs751334184
NM_172107.4(KCNQ2):c.1819G>T (p.Gly607Cys)
NM_172107.4(KCNQ2):c.1823C>A (p.Pro608Gln) rs140217688
NM_172107.4(KCNQ2):c.1828G>A (p.Glu610Lys) rs1350422852
NM_172107.4(KCNQ2):c.1828G>C (p.Glu610Gln) rs1350422852
NM_172107.4(KCNQ2):c.1830G>C (p.Glu610Asp) rs2145497049
NM_172107.4(KCNQ2):c.1834G>A (p.Glu612Lys) rs1180808546
NM_172107.4(KCNQ2):c.1843G>A (p.Glu615Lys) rs1489723565
NM_172107.4(KCNQ2):c.1849C>T (p.Pro617Ser)
NM_172107.4(KCNQ2):c.1862G>T (p.Gly621Val) rs2145496805
NM_172107.4(KCNQ2):c.1868T>C (p.Leu623Pro) rs2145496730
NM_172107.4(KCNQ2):c.1870G>C (p.Gly624Arg) rs771211103
NM_172107.4(KCNQ2):c.1870G>T (p.Gly624Trp) rs771211103
NM_172107.4(KCNQ2):c.1887G>A (p.Gln629=) rs2145496561
NM_172107.4(KCNQ2):c.1888-1G>A rs2079980924
NM_172107.4(KCNQ2):c.188G>T (p.Gly63Val)
NM_172107.4(KCNQ2):c.1919T>C (p.Leu640Pro) rs1568862485
NM_172107.4(KCNQ2):c.1927A>C (p.Ile643Leu) rs1021032210
NM_172107.4(KCNQ2):c.1946G>A (p.Gly649Asp) rs200124638
NM_172107.4(KCNQ2):c.1951C>T (p.Pro651Ser)
NM_172107.4(KCNQ2):c.1952C>G (p.Pro651Arg)
NM_172107.4(KCNQ2):c.1955C>G (p.Pro652Arg) rs770730662
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu) rs770730662
NM_172107.4(KCNQ2):c.1957A>C (p.Thr653Pro)
NM_172107.4(KCNQ2):c.1958C>G (p.Thr653Arg)
NM_172107.4(KCNQ2):c.195G>T (p.Gly65=) rs2082235561
NM_172107.4(KCNQ2):c.1961A>T (p.Glu654Val)
NM_172107.4(KCNQ2):c.1963A>G (p.Thr655Ala)
NM_172107.4(KCNQ2):c.1964C>A (p.Thr655Asn) rs1459962137
NM_172107.4(KCNQ2):c.1968G>C (p.Glu656Asp) rs1245262343
NM_172107.4(KCNQ2):c.1988A>G (p.Glu663Gly) rs758747437
NM_172107.4(KCNQ2):c.1997C>A (p.Pro666Gln)
NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu) rs762130930
NM_172107.4(KCNQ2):c.199C>G (p.Pro67Ala) rs972841085
NM_172107.4(KCNQ2):c.199C>T (p.Pro67Ser) rs972841085
NM_172107.4(KCNQ2):c.2006C>T (p.Pro669Leu) rs774306858
NM_172107.4(KCNQ2):c.2020G>C (p.Glu674Gln)
NM_172107.4(KCNQ2):c.2023G>A (p.Asp675Asn)
NM_172107.4(KCNQ2):c.2030G>C (p.Arg677Pro) rs1326189284
NM_172107.4(KCNQ2):c.2032G>A (p.Glu678Lys) rs2079974270
NM_172107.4(KCNQ2):c.2036A>G (p.His679Arg)
NM_172107.4(KCNQ2):c.2037T>G (p.His679Gln)
NM_172107.4(KCNQ2):c.2041G>A (p.Asp681Asn) rs1380546879
NM_172107.4(KCNQ2):c.2050G>A (p.Gly684Ser) rs577281854
NM_172107.4(KCNQ2):c.2079C>G (p.Ser693Arg) rs2079971597
NM_172107.4(KCNQ2):c.2082C>G (p.Ser694Arg)
NM_172107.4(KCNQ2):c.2090G>A (p.Gly697Asp) rs1398433237
NM_172107.4(KCNQ2):c.2090G>T (p.Gly697Val)
NM_172107.4(KCNQ2):c.2094GAA[1] (p.Lys699del) rs777593960
NM_172107.4(KCNQ2):c.2095A>G (p.Lys699Glu) rs1426709866
NM_172107.4(KCNQ2):c.2100C>A (p.Asn700Lys)
NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del) rs758334927
NM_172107.4(KCNQ2):c.2103C>G (p.Phe701Leu) rs554863606
NM_172107.4(KCNQ2):c.2110C>T (p.Pro704Ser) rs1242898915
NM_172107.4(KCNQ2):c.2111C>T (p.Pro704Leu)
NM_172107.4(KCNQ2):c.2123C>A (p.Pro708His) rs1360560623
NM_172107.4(KCNQ2):c.2126C>T (p.Pro709Leu) rs2079968880
NM_172107.4(KCNQ2):c.2132A>C (p.Gln711Pro) rs2145486666
NM_172107.4(KCNQ2):c.2138C>T (p.Pro713Leu) rs750333438
NM_172107.4(KCNQ2):c.2162A>G (p.Gln721Arg)
NM_172107.4(KCNQ2):c.2165G>A (p.Ser722Asn) rs980574000
NM_172107.4(KCNQ2):c.2174G>A (p.Arg725His) rs775271635
NM_172107.4(KCNQ2):c.2174G>T (p.Arg725Leu)
NM_172107.4(KCNQ2):c.2185G>A (p.Gly729Ser)
NM_172107.4(KCNQ2):c.2197G>A (p.Val733Met) rs756563523
NM_172107.4(KCNQ2):c.2198T>C (p.Val733Ala)
NM_172107.4(KCNQ2):c.219C>A (p.Phe73Leu)
NM_172107.4(KCNQ2):c.2200G>A (p.Gly734Arg)
NM_172107.4(KCNQ2):c.2203G>A (p.Asp735Asn) rs1333247951
NM_172107.4(KCNQ2):c.2203G>T (p.Asp735Tyr)
NM_172107.4(KCNQ2):c.2204A>G (p.Asp735Gly)
NM_172107.4(KCNQ2):c.2210G>A (p.Gly737Asp) rs751657917
NM_172107.4(KCNQ2):c.2216T>A (p.Leu739Gln) rs2079965385
NM_172107.4(KCNQ2):c.2219T>C (p.Val740Ala) rs1064797020
NM_172107.4(KCNQ2):c.2221C>T (p.Arg741Cys) rs2079965070
NM_172107.4(KCNQ2):c.2231C>T (p.Pro744Leu)
NM_172107.4(KCNQ2):c.2243A>C (p.His748Pro)
NM_172107.4(KCNQ2):c.2244C>G (p.His748Gln)
NM_172107.4(KCNQ2):c.2245G>A (p.Glu749Lys) rs796052658
NM_172107.4(KCNQ2):c.2248C>T (p.Arg750Trp) rs759060719
NM_172107.4(KCNQ2):c.225C>T (p.Arg75=)
NM_172107.4(KCNQ2):c.2272_2286del (p.Gly758_Ser762del) rs2079961255
NM_172107.4(KCNQ2):c.2281G>A (p.Ala761Thr) rs587780366
NM_172107.4(KCNQ2):c.2285G>A (p.Ser762Asn)
NM_172107.4(KCNQ2):c.2285_2287dup (p.Ser762dup) rs2079961029
NM_172107.4(KCNQ2):c.22G>T (p.Gly8Cys) rs769045070
NM_172107.4(KCNQ2):c.2314_2315inv (p.Pro772Gly)
NM_172107.4(KCNQ2):c.2321G>T (p.Cys774Phe) rs762596565
NM_172107.4(KCNQ2):c.2321_2322delinsAT (p.Cys774Tyr) rs2079958591
NM_172107.4(KCNQ2):c.2323A>G (p.Arg775Gly)
NM_172107.4(KCNQ2):c.2326C>T (p.Pro776Ser)
NM_172107.4(KCNQ2):c.2330C>T (p.Pro777Leu)
NM_172107.4(KCNQ2):c.2348A>G (p.Asp783Gly)
NM_172107.4(KCNQ2):c.2355C>A (p.Asp785Glu) rs781121496
NM_172107.4(KCNQ2):c.2357C>T (p.Thr786Met) rs754872408
NM_172107.4(KCNQ2):c.2363T>C (p.Ile788Thr) rs2145483961
NM_172107.4(KCNQ2):c.2369T>C (p.Ile790Thr) rs2145483858
NM_172107.4(KCNQ2):c.2377G>A (p.Val793Met) rs377227909
NM_172107.4(KCNQ2):c.2399G>T (p.Arg800Leu)
NM_172107.4(KCNQ2):c.239T>C (p.Phe80Ser) rs2082234077
NM_172107.4(KCNQ2):c.2404T>C (p.Phe802Leu) rs796052659
NM_172107.4(KCNQ2):c.2419A>C (p.Ile807Leu) rs1202025157
NM_172107.4(KCNQ2):c.2435A>C (p.Glu812Ala)
NM_172107.4(KCNQ2):c.2439C>A (p.Asn813Lys)
NM_172107.4(KCNQ2):c.2446G>A (p.Ala816Thr) rs796052660
NM_172107.4(KCNQ2):c.2446G>T (p.Ala816Ser) rs796052660
NM_172107.4(KCNQ2):c.244T>A (p.Tyr82Asn) rs1600885336
NM_172107.4(KCNQ2):c.2470G>A (p.Val824Met) rs750108040
NM_172107.4(KCNQ2):c.2474C>G (p.Ala825Gly) rs1568858969
NM_172107.4(KCNQ2):c.2477C>G (p.Pro826Arg) rs2145482883
NM_172107.4(KCNQ2):c.2479T>C (p.Cys827Arg) rs2145482847
NM_172107.4(KCNQ2):c.2480G>T (p.Cys827Phe) rs2145482824
NM_172107.4(KCNQ2):c.2483C>T (p.Ala828Val)
NM_172107.4(KCNQ2):c.2500A>G (p.Ile834Val) rs1555850289
NM_172107.4(KCNQ2):c.2506G>C (p.Glu836Gln)
NM_172107.4(KCNQ2):c.2512G>C (p.Glu838Gln)
NM_172107.4(KCNQ2):c.2514dup (p.Ser839fs)
NM_172107.4(KCNQ2):c.2516C>A (p.Ser839Ter) rs2079948012
NM_172107.4(KCNQ2):c.2524G>C (p.Asp842His)
NM_172107.4(KCNQ2):c.2531A>G (p.Asp844Gly)
NM_172107.4(KCNQ2):c.2536T>G (p.Cys846Gly) rs2079947062
NM_172107.4(KCNQ2):c.2536_2565del (p.Cys846_Ser855del) rs2079945316
NM_172107.4(KCNQ2):c.254T>A (p.Leu85Gln)
NM_172107.4(KCNQ2):c.254T>C (p.Leu85Pro) rs2082233689
NM_172107.4(KCNQ2):c.2553C>T (p.Pro851=) rs1568858578
NM_172107.4(KCNQ2):c.2555dup (p.Pro853fs)
NM_172107.4(KCNQ2):c.2561G>A (p.Arg854His)
NM_172107.4(KCNQ2):c.2561G>T (p.Arg854Leu) rs1238249590
NM_172107.4(KCNQ2):c.2566G>C (p.Ala856Pro)
NM_172107.4(KCNQ2):c.2566G>T (p.Ala856Ser) rs1280612355
NM_172107.4(KCNQ2):c.2570C>T (p.Thr857Ile)
NM_172107.4(KCNQ2):c.2572G>C (p.Gly858Arg)
NM_172107.4(KCNQ2):c.2575G>A (p.Glu859Lys)
NM_172107.4(KCNQ2):c.2578G>C (p.Gly860Arg)
NM_172107.4(KCNQ2):c.2584T>C (p.Phe862Leu) rs796052662
NM_172107.4(KCNQ2):c.258_259delinsAA (p.Glu86_Arg87=) rs2145921082
NM_172107.4(KCNQ2):c.2593G>A (p.Val865Met)
NM_172107.4(KCNQ2):c.2594T>G (p.Val865Gly)
NM_172107.4(KCNQ2):c.2599T>C (p.Trp867Arg)
NM_172107.4(KCNQ2):c.25G>A (p.Gly9Ser)
NM_172107.4(KCNQ2):c.2602G>C (p.Ala868Pro) rs774595024
NM_172107.4(KCNQ2):c.2605G>A (p.Gly869Arg)
NM_172107.4(KCNQ2):c.2608C>T (p.Pro870Ser)
NM_172107.4(KCNQ2):c.2612G>A (p.Arg871Lys) rs2079942562
NM_172107.4(KCNQ2):c.2616G>C (p.Lys872Asn)
NM_172107.4(KCNQ2):c.263C>A (p.Pro88Gln) rs2145921050
NM_172107.4(KCNQ2):c.266G>C (p.Arg89Pro)
NM_172107.4(KCNQ2):c.266G>T (p.Arg89Leu)
NM_172107.4(KCNQ2):c.271T>G (p.Trp91Gly)
NM_172107.4(KCNQ2):c.280A>G (p.Ile94Val)
NM_172107.4(KCNQ2):c.286C>T (p.His96Tyr) rs2082232988
NM_172107.4(KCNQ2):c.296+3G>A
NM_172107.4(KCNQ2):c.296+5G>A rs2145920846
NM_172107.4(KCNQ2):c.296+5G>C
NM_172107.4(KCNQ2):c.307G>A (p.Val103Ile) rs1555874588
NM_172107.4(KCNQ2):c.31T>C (p.Tyr11His) rs1270851643
NM_172107.4(KCNQ2):c.320T>C (p.Leu107Pro) rs1555874569
NM_172107.4(KCNQ2):c.329_334del (p.Ser110_Val111del)
NM_172107.4(KCNQ2):c.336T>G (p.Phe112Leu) rs2081440418
NM_172107.4(KCNQ2):c.338C>T (p.Ser113Phe) rs796052616
NM_172107.4(KCNQ2):c.341C>G (p.Thr114Ser) rs1057516077
NM_172107.4(KCNQ2):c.346_348del (p.Lys116del) rs118192192
NM_172107.4(KCNQ2):c.347A>G (p.Lys116Arg)
NM_172107.4(KCNQ2):c.359A>G (p.Lys120Arg)
NM_172107.4(KCNQ2):c.375C>T (p.Ala125=) rs1568944870
NM_172107.4(KCNQ2):c.385C>G (p.Leu129Val) rs1381622639
NM_172107.4(KCNQ2):c.388-3C>T rs1555874020
NM_172107.4(KCNQ2):c.388-4G>T
NM_172107.4(KCNQ2):c.388-9C>G rs371784719
NM_172107.4(KCNQ2):c.392T>C (p.Ile131Thr) rs2145779784
NM_172107.4(KCNQ2):c.394G>T (p.Val132Leu) rs1600789325
NM_172107.4(KCNQ2):c.397A>G (p.Thr133Ala)
NM_172107.4(KCNQ2):c.400A>G (p.Ile134Val) rs2081381281
NM_172107.4(KCNQ2):c.403G>T (p.Val135Leu) rs775649577
NM_172107.4(KCNQ2):c.403GTG[1] (p.Val136del)
NM_172107.4(KCNQ2):c.409T>G (p.Phe137Val)
NM_172107.4(KCNQ2):c.415G>C (p.Val139Leu)
NM_172107.4(KCNQ2):c.427G>A (p.Val143Met) rs768237205
NM_172107.4(KCNQ2):c.427G>T (p.Val143Leu) rs768237205
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.436T>A (p.Trp146Arg) rs1555873982
NM_172107.4(KCNQ2):c.439G>C (p.Ala147Pro) rs1568941739
NM_172107.4(KCNQ2):c.442G>A (p.Ala148Thr) rs2081379814
NM_172107.4(KCNQ2):c.443C>A (p.Ala148Glu) rs2145779347
NM_172107.4(KCNQ2):c.448T>C (p.Cys150Arg)
NM_172107.4(KCNQ2):c.449G>A (p.Cys150Tyr)
NM_172107.4(KCNQ2):c.457C>A (p.Arg153=)
NM_172107.4(KCNQ2):c.457C>T (p.Arg153Trp)
NM_172107.4(KCNQ2):c.45C>A (p.Ser15Arg)
NM_172107.4(KCNQ2):c.463C>G (p.Arg155Gly)
NM_172107.4(KCNQ2):c.463C>T (p.Arg155Cys) rs886042698
NM_172107.4(KCNQ2):c.464G>A (p.Arg155His) rs779076192
NM_172107.4(KCNQ2):c.466G>A (p.Gly156Ser) rs2145779171
NM_172107.4(KCNQ2):c.466G>C (p.Gly156Arg)
NM_172107.4(KCNQ2):c.46G>T (p.Gly16Trp) rs776118228
NM_172107.4(KCNQ2):c.473G>A (p.Arg158Lys) rs2145779118
NM_172107.4(KCNQ2):c.479G>C (p.Arg160Pro) rs1057518323
NM_172107.4(KCNQ2):c.479G>T (p.Arg160Leu)
NM_172107.4(KCNQ2):c.482T>C (p.Leu161Pro) rs2145778948
NM_172107.4(KCNQ2):c.493C>T (p.Arg165Trp)
NM_172107.4(KCNQ2):c.494G>A (p.Arg165Gln)
NM_172107.4(KCNQ2):c.508G>C (p.Val170Leu) rs2145778732
NM_172107.4(KCNQ2):c.514+4A>T rs1555873930
NM_172107.4(KCNQ2):c.514+5G>A rs2081377457
NM_172107.4(KCNQ2):c.514G>A (p.Asp172Asn)
NM_172107.4(KCNQ2):c.51G>T (p.Glu17Asp) rs2082239531
NM_172107.4(KCNQ2):c.528_548dup (p.Leu183_Ala184insIleAlaSerIleAlaValLeu)
NM_172107.4(KCNQ2):c.531C>G (p.Ile177Met)
NM_172107.4(KCNQ2):c.532G>A (p.Ala178Thr) rs1555873790
NM_172107.4(KCNQ2):c.543G>A (p.Ala181=) rs1447421194
NM_172107.4(KCNQ2):c.545T>C (p.Val182Ala)
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.553G>T (p.Ala185Ser) rs1600786349
NM_172107.4(KCNQ2):c.554C>T (p.Ala185Val) rs1131691529
NM_172107.4(KCNQ2):c.556G>A (p.Gly186Ser) rs2081363570
NM_172107.4(KCNQ2):c.557G>T (p.Gly186Val)
NM_172107.4(KCNQ2):c.55A>C (p.Lys19Gln)
NM_172107.4(KCNQ2):c.560C>T (p.Ser187Phe) rs2081363375
NM_172107.4(KCNQ2):c.563A>C (p.Gln188Pro) rs1064797285
NM_172107.4(KCNQ2):c.569A>T (p.Asn190Ile) rs2145775795
NM_172107.4(KCNQ2):c.570C>A (p.Asn190Lys) rs116087798
NM_172107.4(KCNQ2):c.571G>A (p.Val191Ile) rs745564113
NM_172107.4(KCNQ2):c.597C>A (p.Ser199Arg)
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.4(KCNQ2):c.611_619del (p.Gln204_Leu206del)
NM_172107.4(KCNQ2):c.615T>G (p.Ile205Met) rs971211988
NM_172107.4(KCNQ2):c.61A>G (p.Lys21Glu) rs2145922229
NM_172107.4(KCNQ2):c.629G>T (p.Arg210Leu)
NM_172107.4(KCNQ2):c.64G>A (p.Val22Met) rs2082239153
NM_172107.4(KCNQ2):c.655A>G (p.Lys219Glu)
NM_172107.4(KCNQ2):c.665G>A (p.Gly222Asp) rs2145774681
NM_172107.4(KCNQ2):c.673G>T (p.Val225Phe)
NM_172107.4(KCNQ2):c.691-3C>G rs768834593
NM_172107.4(KCNQ2):c.691G>A (p.Glu231Lys)
NM_172107.4(KCNQ2):c.697G>C (p.Val233Leu)
NM_172107.4(KCNQ2):c.698T>A (p.Val233Asp)
NM_172107.4(KCNQ2):c.69C>T (p.Gly23=)
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
NM_172107.4(KCNQ2):c.703G>A (p.Ala235Thr) rs2081192615
NM_172107.4(KCNQ2):c.712A>C (p.Ile238Leu) rs747050726
NM_172107.4(KCNQ2):c.714C>G (p.Ile238Met)
NM_172107.4(KCNQ2):c.715G>A (p.Gly239Ser)
NM_172107.4(KCNQ2):c.716G>T (p.Gly239Val) rs796052630
NM_172107.4(KCNQ2):c.725G>C (p.Cys242Ser)
NM_172107.4(KCNQ2):c.725G>T (p.Cys242Phe)
NM_172107.4(KCNQ2):c.737C>T (p.Ala246Val)
NM_172107.4(KCNQ2):c.756G>T (p.Leu252Phe) rs2081190032
NM_172107.4(KCNQ2):c.761A>G (p.Glu254Gly) rs794727739
NM_172107.4(KCNQ2):c.765G>T (p.Lys255Asn)
NM_172107.4(KCNQ2):c.766G>C (p.Gly256Arg) rs1057518500
NM_172107.4(KCNQ2):c.769G>C (p.Glu257Gln)
NM_172107.4(KCNQ2):c.773A>T (p.Asn258Ile)
NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn) rs777257591
NM_172107.4(KCNQ2):c.777C>A (p.Asp259Glu) rs2081188808
NM_172107.4(KCNQ2):c.782T>C (p.Phe261Ser) rs796052631
NM_172107.4(KCNQ2):c.787A>T (p.Thr263Ser)
NM_172107.4(KCNQ2):c.791A>T (p.Tyr264Phe)
NM_172107.4(KCNQ2):c.799G>A (p.Ala267Thr) rs2145735332
NM_172107.4(KCNQ2):c.799G>T (p.Ala267Ser)
NM_172107.4(KCNQ2):c.800C>T (p.Ala267Val) rs2081187554
NM_172107.4(KCNQ2):c.814C>A (p.Leu272Met) rs2145735086
NM_172107.4(KCNQ2):c.815T>C (p.Leu272Pro) rs1057519227
NM_172107.4(KCNQ2):c.816+5G>A rs2145735039
NM_172107.4(KCNQ2):c.817-3C>T rs2081103894
NM_172107.4(KCNQ2):c.832A>G (p.Ile278Val)
NM_172107.4(KCNQ2):c.835G>T (p.Gly279Cys) rs1057516096
NM_172107.4(KCNQ2):c.83A>T (p.Asp28Val)
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) rs794727813
NM_172107.4(KCNQ2):c.856C>G (p.Gln286Glu)
NM_172107.4(KCNQ2):c.857A>C (p.Gln286Pro)
NM_172107.4(KCNQ2):c.85C>A (p.Pro29Thr)
NM_172107.4(KCNQ2):c.860C>T (p.Thr287Ile) rs727503973
NM_172107.4(KCNQ2):c.864G>C (p.Trp288Cys) rs2081100544
NM_172107.4(KCNQ2):c.873G>C (p.Arg291Ser) rs1057519535
NM_172107.4(KCNQ2):c.877C>T (p.Leu293Phe) rs2081099943
NM_172107.4(KCNQ2):c.887C>A (p.Thr296Asn) rs2081099327
NM_172107.4(KCNQ2):c.891C>G (p.Phe297Leu)
NM_172107.4(KCNQ2):c.895C>G (p.Leu299Val) rs2145718755
NM_172107.4(KCNQ2):c.911T>A (p.Phe304Tyr)
NM_172107.4(KCNQ2):c.91G>T (p.Ala31Ser)
NM_172107.4(KCNQ2):c.920T>G (p.Leu307Arg)
NM_172107.4(KCNQ2):c.927+5G>A
NM_172107.4(KCNQ2):c.928-10T>A
NM_172107.4(KCNQ2):c.928-6T>C
NM_172107.4(KCNQ2):c.928-8A>T
NM_172107.4(KCNQ2):c.937G>T (p.Gly313Trp) rs796052639
NM_172107.4(KCNQ2):c.946T>C (p.Phe316Leu) rs2145712640
NM_172107.4(KCNQ2):c.94C>G (p.Pro32Ala)
NM_172107.4(KCNQ2):c.958G>T (p.Val320Phe) rs2145712541
NM_172107.4(KCNQ2):c.981G>T (p.Lys327Asn) rs2145712415
NM_172107.4(KCNQ2):c.982C>A (p.His328Asn) rs1555869803
NM_172107.4(KCNQ2):c.983A>G (p.His328Arg)
NM_172107.4(KCNQ2):c.995G>A (p.Arg332Lys) rs796052640

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