ClinVar Miner

List of variants in gene KCNQ2 reported as pathogenic for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 454
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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.(?_62027832)_(62045449_?)del
NC_000020.10:g.(?_62027833)_(62045450_?)del
NC_000020.10:g.(?_62030796)_(62038482_?)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.(?_62037997)_(62071081_?)del
NC_000020.10:g.(?_62038255)_(62077133_?)del
NC_000020.10:g.(?_62038508)_(62044760_?)del
NC_000020.10:g.(?_62044566)_(62046452_?)del
NC_000020.10:g.(?_62044783)_(62045566_?)del
NC_000020.10:g.(?_62044783)_(62065276_?)del
NC_000020.10:g.(?_62044783)_(62078210_?)del
NC_000020.10:g.(?_62044793)_(62044944_?)del
NC_000020.10:g.(?_62045421)_(62103816_?)del
NC_000020.10:g.(?_62046246)_(62055569_?)del
NC_000020.10:g.(?_62050952)_(62059808_?)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.(?_62062673)_(62078210_?)del
NC_000020.10:g.(?_62062673)_(62103816_?)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.(?_63413450)_(63415126_?)del
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_172107.2(KCNQ2):c.1119-?_*382del
NM_172107.2(KCNQ2):c.297-?_1247+?del
NM_172107.2(KCNQ2):c.388-682_1118+?del
NM_172107.2(KCNQ2):c.388-?_1301+?del
NM_172107.2:c.1-?c.993+?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.1022A>G (p.Gln341Arg) rs2081071796
NM_172107.4(KCNQ2):c.1023G>C (p.Gln341His) rs2081071680
NM_172107.4(KCNQ2):c.1024-1G>A
NM_172107.4(KCNQ2):c.1024-2A>C rs1057516104
NM_172107.4(KCNQ2):c.1027G>A (p.Ala343Thr)
NM_172107.4(KCNQ2):c.102del (p.Thr35fs) rs1568986619
NM_172107.4(KCNQ2):c.1030T>A (p.Trp344Arg)
NM_172107.4(KCNQ2):c.1040A>G (p.Tyr347Cys)
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.1046C>T (p.Thr349Ile) rs2080906453
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.1076C>T (p.Thr359Met) rs118192219
NM_172107.4(KCNQ2):c.1079G>A (p.Trp360Ter) rs796052644
NM_172107.4(KCNQ2):c.1080G>A (p.Trp360Ter) rs1600732174
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.1136_1137delinsGA (p.Tyr379Ter)
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.1160dup (p.Leu388fs) 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.1197del (p.Ser399fs) rs587780365
NM_172107.4(KCNQ2):c.1197dup (p.Lys400Ter)
NM_172107.4(KCNQ2):c.119_120del (p.Leu40fs) rs2145921876
NM_172107.4(KCNQ2):c.1204G>T (p.Gly402Ter) rs1064794001
NM_172107.4(KCNQ2):c.1217+1G>T rs2080693649
NM_172107.4(KCNQ2):c.1217+2_1217+3delinsAG rs2145636962
NM_172107.4(KCNQ2):c.1228CCG[1] (p.Pro411del) rs1060499544
NM_172107.4(KCNQ2):c.1229del (p.Pro410fs) rs886041339
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1247+1G>A rs1057516115
NM_172107.4(KCNQ2):c.1273_1274del (p.Leu425fs)
NM_172107.4(KCNQ2):c.1302-1G>C rs118192225
NM_172107.4(KCNQ2):c.1302-1G>T
NM_172107.4(KCNQ2):c.1311_1312insT (p.Ser438Ter)
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.1420G>T (p.Glu474Ter) rs368130496
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.1531del (p.Ser511fs)
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.1547del (p.Asp516fs)
NM_172107.4(KCNQ2):c.1558_1561dup (p.Lys521fs) rs2145548219
NM_172107.4(KCNQ2):c.1601del (p.Pro534fs)
NM_172107.4(KCNQ2):c.1610_1615del (p.Lys537_Val538del) rs1555853977
NM_172107.4(KCNQ2):c.1621A>G (p.Arg541Gly) rs1555853971
NM_172107.4(KCNQ2):c.1631+1G>A rs1057516121
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.1636A>G (p.Met546Val) rs397515420
NM_172107.4(KCNQ2):c.1638G>A (p.Met546Ile) rs2080191127
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.1662G>T (p.Lys554Asn) rs267607198
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.1680_1684dup (p.Tyr562fs) rs118192231
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.171_172delinsAA (p.Arg58Ser) rs2145921606
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.1734_1735delinsAA (p.Met578_Leu579delinsIleMet) rs796052665
NM_172107.4(KCNQ2):c.1741C>G (p.Arg581Gly) rs118192236
NM_172107.4(KCNQ2):c.1741_1747delinsAGGCAAGAGCCCCGCCTGCCTGTCCAGCAGGGGACAAGAACGGGGTGGGCTTCTGGGAC (p.Ile582fs)
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.4(KCNQ2):c.1756C>T (p.Gln586Ter)
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro) rs796052656
NM_172107.4(KCNQ2):c.1763+5G>C
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.1930del (p.Tyr644fs) rs118192241
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.1956dup (p.Thr653fs) rs1601545088
NM_172107.4(KCNQ2):c.195_196del (p.Lys66fs) rs2145921462
NM_172107.4(KCNQ2):c.195_198del (p.Lys66fs)
NM_172107.4(KCNQ2):c.1966del (p.Glu656fs) rs2145488506
NM_172107.4(KCNQ2):c.196A>T (p.Lys66Ter)
NM_172107.4(KCNQ2):c.197del (p.Lys66fs) rs2082235501
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.2007dup (p.Tyr670fs)
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.2048_2049del (p.His683fs)
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.2118del (p.Ala707fs)
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs) rs1555850842
NM_172107.4(KCNQ2):c.2127del (p.Val710fs) rs118192244
NM_172107.4(KCNQ2):c.2147C>T (p.Thr716Ile) rs864321711
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.2296del (p.Leu766fs) rs1057518668
NM_172107.4(KCNQ2):c.2305G>T (p.Glu769Ter) rs2145484794
NM_172107.4(KCNQ2):c.2315del (p.Pro772fs) rs2079959227
NM_172107.4(KCNQ2):c.2318dup (p.Cys774fs) rs1555850512
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.2330_2331dup (p.Glu778fs)
NM_172107.4(KCNQ2):c.2331dup (p.Glu778fs)
NM_172107.4(KCNQ2):c.2333del (p.Glu778fs)
NM_172107.4(KCNQ2):c.2339del (p.Asn780fs) rs2145484269
NM_172107.4(KCNQ2):c.2341dup (p.Leu781fs) rs529943494
NM_172107.4(KCNQ2):c.2361_2364del (p.Ile788fs)
NM_172107.4(KCNQ2):c.2361dup (p.Ile788fs) rs1601542417
NM_172107.4(KCNQ2):c.2378_2391del (p.Val793fs) rs1555850403
NM_172107.4(KCNQ2):c.2399del (p.Arg800fs)
NM_172107.4(KCNQ2):c.2418del (p.Ser806fs) rs2145483403
NM_172107.4(KCNQ2):c.2425C>T (p.Gln809Ter)
NM_172107.4(KCNQ2):c.2425del (p.Gln809fs) rs1057518662
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.2605_2609dup (p.Arg871fs) rs118192246
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.286C>A (p.His96Asn) rs2082232988
NM_172107.4(KCNQ2):c.297-1G>C rs2081442293
NM_172107.4(KCNQ2):c.297-3C>G
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+1G>A
NM_172107.4(KCNQ2):c.387+5G>A rs2081437856
NM_172107.4(KCNQ2):c.388G>A (p.Glu130Lys) rs864321710
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.423C>G (p.Tyr141Ter)
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.438G>A (p.Trp146Ter)
NM_172107.4(KCNQ2):c.439del (p.Ala147fs) rs1555873981
NM_172107.4(KCNQ2):c.446_459del (p.Gly149fs)
NM_172107.4(KCNQ2):c.457C>A (p.Arg153=)
NM_172107.4(KCNQ2):c.459del (p.Tyr154fs) rs2145779218
NM_172107.4(KCNQ2):c.471G>A (p.Trp157Ter) rs1057516079
NM_172107.4(KCNQ2):c.475G>A (p.Gly159Arg) rs1057516080
NM_172107.4(KCNQ2):c.476G>T (p.Gly159Val) rs1057516081
NM_172107.4(KCNQ2):c.477del (p.Arg160fs) rs2081378550
NM_172107.4(KCNQ2):c.493dup (p.Arg165fs) rs2145778884
NM_172107.4(KCNQ2):c.498dup (p.Pro167fs)
NM_172107.4(KCNQ2):c.507_514+10del rs2081377258
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.553G>T (p.Ala185Ser) rs1600786349
NM_172107.4(KCNQ2):c.560C>T (p.Ser187Phe) rs2081363375
NM_172107.4(KCNQ2):c.562del (p.Gln188fs)
NM_172107.4(KCNQ2):c.569A>G (p.Asn190Ser)
NM_172107.4(KCNQ2):c.572T>C (p.Val191Ala)
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.584_593delinsA (p.Ser195_Arg198delinsTer) rs118192197
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>G (p.Arg201Gly)
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.608T>C (p.Leu203Pro) rs1057516086
NM_172107.4(KCNQ2):c.610del (p.Gln204fs) rs2145775420
NM_172107.4(KCNQ2):c.613A>G (p.Ile205Val) rs1057516087
NM_172107.4(KCNQ2):c.617T>G (p.Leu206Arg) rs1339542565
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.629G>C (p.Arg210Pro) 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.638G>T (p.Arg213Leu) rs397514581
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>A (p.Trp218Arg) rs892572733
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.668_669del (p.Ser223fs)
NM_172107.4(KCNQ2):c.673G>T (p.Val225Phe)
NM_172107.4(KCNQ2):c.682del (p.His228fs)
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.689A>G (p.Lys230Arg)
NM_172107.4(KCNQ2):c.698_699insACC (p.Val233_Thr234insPro) rs794729197
NM_172107.4(KCNQ2):c.699_709del (p.Thr234fs) rs2145736578
NM_172107.4(KCNQ2):c.700A>G (p.Thr234Ala) rs1057516091
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.725G>T (p.Cys242Phe)
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.749T>G (p.Val250Gly) rs118192206
NM_172107.4(KCNQ2):c.753C>G (p.Tyr251Ter) rs2145735982
NM_172107.4(KCNQ2):c.757G>T (p.Ala253Ser) rs1057516093
NM_172107.4(KCNQ2):c.761A>C (p.Glu254Ala) rs794727739
NM_172107.4(KCNQ2):c.766G>T (p.Gly256Trp)
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.775G>T (p.Asp259Tyr) rs777257591
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.803T>C (p.Leu268Pro) rs864321708
NM_172107.4(KCNQ2):c.807G>A (p.Trp269Ter) rs118192208
NM_172107.4(KCNQ2):c.807G>T (p.Trp269Cys) rs118192208
NM_172107.4(KCNQ2):c.811G>A (p.Gly271Ser) rs1064797284
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.829A>G (p.Thr277Ala)
NM_172107.4(KCNQ2):c.830C>G (p.Thr277Ser)
NM_172107.4(KCNQ2):c.832_845dup (p.Asp282fs)
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728
NM_172107.4(KCNQ2):c.835G>A (p.Gly279Ser)
NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp) rs2145719551
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.841G>T (p.Gly281Trp) rs794727813
NM_172107.4(KCNQ2):c.842G>A (p.Gly281Glu) rs1064795489
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.850T>G (p.Tyr284Asp) rs864321706
NM_172107.4(KCNQ2):c.851A>G (p.Tyr284Cys) rs28939683
NM_172107.4(KCNQ2):c.853C>A (p.Pro285Thr)
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.868G>T (p.Gly290Cys)
NM_172107.4(KCNQ2):c.869G>A (p.Gly290Asp) rs397514582
NM_172107.4(KCNQ2):c.878T>C (p.Leu293Pro) rs2145718961
NM_172107.4(KCNQ2):c.880dup (p.Ala294fs)
NM_172107.4(KCNQ2):c.881C>A (p.Ala294Glu)
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.902G>A (p.Gly301Asp) rs1131691936
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.916G>C (p.Ala306Pro) 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>A rs1555870346
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.928G>A (p.Gly310Ser) rs1568925719
NM_172107.4(KCNQ2):c.937G>A (p.Gly313Arg)
NM_172107.4(KCNQ2):c.943G>A (p.Gly315Arg)
NM_172107.4(KCNQ2):c.943G>C (p.Gly315Arg) rs864321709
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr) rs1600751236
NM_172107.4(KCNQ2):c.958_993dup (p.Val320_Lys331dup) rs1568925507
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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