ClinVar Miner

List of variants studied for Seizures, benign familial neonatal, 1

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Total variants: 188
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr) rs1801475 0.59301
NM_172107.4(KCNQ2):c.388-26G>T rs6062939 0.21189
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=) rs1801471 0.07011
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974 0.00220
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser) rs587780369 0.00008
NM_172107.4(KCNQ2):c.1887+5G>A rs777916008 0.00004
NM_172107.4(KCNQ2):c.1218-18T>G rs908502131 0.00001
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.2564C>T (p.Ser855Leu) rs12481082 0.00001
NM_172107.4(KCNQ2):c.740C>A (p.Ser247Ter) rs74315392 0.00001
NC_000020.11:g.(?_63413450)_(63415126_?)del
NM_152296.5(ATP1A3):c.1115del (p.Thr372fs) rs2145972429
NM_172107.2(KCNQ2):c.(?_-177)_690+?del
NM_172107.2(KCNQ2):c.1119-?_*382del
NM_172107.2(KCNQ2):c.1248-?_(*455_?)del
NM_172107.2(KCNQ2):c.1764-?_(*455_?)del
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.(1228_1230)del12
NM_172107.2:c.1-?c.993+?del
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu) rs796052641
NM_172107.4(KCNQ2):c.1016T>G (p.Leu339Arg) rs118192217
NM_172107.4(KCNQ2):c.1027G>C (p.Ala343Pro)
NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg) rs1057516105
NM_172107.4(KCNQ2):c.1050C>A (p.Asn350Lys) rs1371059392
NM_172107.4(KCNQ2):c.1051C>G (p.Leu351Val) rs1057516106
NM_172107.4(KCNQ2):c.1051C>T (p.Leu351Phe) rs1057516106
NM_172107.4(KCNQ2):c.1054T>C (p.Ser352Pro) rs1057516108
NM_172107.4(KCNQ2):c.1055C>G (p.Ser352Trp)
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.1073C>T (p.Ser358Phe) rs1057516110
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.1080G>A (p.Trp360Ter) rs1600732174
NM_172107.4(KCNQ2):c.1085A>G (p.Tyr362Cys) rs1057516111
NM_172107.4(KCNQ2):c.1089C>G (p.Tyr363Ter) rs1185859533
NM_172107.4(KCNQ2):c.1093C>T (p.Arg365Ter)
NM_172107.4(KCNQ2):c.1118+1G>A rs397507449
NM_172107.4(KCNQ2):c.1118+3A>G rs1057516112
NM_172107.4(KCNQ2):c.1126del (p.Thr376fs) rs1057516113
NM_172107.4(KCNQ2):c.1148+2T>G rs118192221
NM_172107.4(KCNQ2):c.1149-1G>T rs1600714727
NM_172107.4(KCNQ2):c.1160dup (p.Leu388fs) rs796052657
NM_172107.4(KCNQ2):c.1192_1193del (p.Lys398fs) rs118192222
NM_172107.4(KCNQ2):c.1195_1196del (p.Lys398_Ser399insTer) rs1057516114
NM_172107.4(KCNQ2):c.1217+2T>G rs118192223
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.1288C>T (p.Pro430Ser) rs118192224
NM_172107.4(KCNQ2):c.1302-1G>C rs118192225
NM_172107.4(KCNQ2):c.1328_1350del (p.Val443fs)
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_172107.4(KCNQ2):c.1393C>T (p.Arg465Trp)
NM_172107.4(KCNQ2):c.1411C>T (p.Gln471Ter)
NM_172107.4(KCNQ2):c.1418_1419del (p.Leu473fs) rs1057516117
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.1525+1G>A rs118192228
NM_172107.4(KCNQ2):c.1565G>A (p.Ser522Asn)
NM_172107.4(KCNQ2):c.1569_1581del (p.Cys523fs) rs1555854036
NM_172107.4(KCNQ2):c.1609A>T (p.Lys537Ter) rs1555853983
NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr) rs1555853970
NM_172107.4(KCNQ2):c.1631+1G>A rs1057516121
NM_172107.4(KCNQ2):c.1632-1G>T rs118192233
NM_172107.4(KCNQ2):c.1638G>A (p.Met546Ile) rs2080191127
NM_172107.4(KCNQ2):c.1639C>G (p.Arg547Gly) rs796052650
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.1658G>C (p.Arg553Pro) 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.1676T>C (p.Leu559Pro)
NM_172107.4(KCNQ2):c.1680_1684dup (p.Tyr562fs) rs118192231
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.4(KCNQ2):c.1732A>G (p.Met578Val) rs1057516123
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.1763+2C>G
NM_172107.4(KCNQ2):c.1764-2A>G rs118192238
NM_172107.4(KCNQ2):c.1764-6C>A rs118192239
NM_172107.4(KCNQ2):c.1764A>T (p.Arg588Ser) rs118192237
NM_172107.4(KCNQ2):c.1783C>T (p.Arg595Trp) rs1555851550
NM_172107.4(KCNQ2):c.1856_1886del (p.Met619fs) rs1555851445
NM_172107.4(KCNQ2):c.1910T>G (p.Leu637Arg) rs118192240
NM_172107.4(KCNQ2):c.1930del (p.Tyr644fs) rs118192241
NM_172107.4(KCNQ2):c.1956del (p.Thr653fs) rs118192242
NM_172107.4(KCNQ2):c.1956dup (p.Thr653fs) rs1601545088
NM_172107.4(KCNQ2):c.195_198del (p.Lys66fs)
NM_172107.4(KCNQ2):c.197del (p.Lys66fs) rs2082235501
NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu) rs762130930
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.4(KCNQ2):c.2015del (p.Ser672fs) rs118192243
NM_172107.4(KCNQ2):c.2048_2049del (p.His683fs)
NM_172107.4(KCNQ2):c.204dup (p.Lys69fs) rs118192188
NM_172107.4(KCNQ2):c.2118del (p.Ala707fs)
NM_172107.4(KCNQ2):c.2127del (p.Val710fs) rs118192244
NM_172107.4(KCNQ2):c.2156del (p.Gln719fs)
NM_172107.4(KCNQ2):c.2251T>G (p.Ser751Ala)
NM_172107.4(KCNQ2):c.2258C>T (p.Ser753Phe)
NM_172107.4(KCNQ2):c.2260G>C (p.Ala754Pro)
NM_172107.4(KCNQ2):c.2315del (p.Pro772fs) rs2079959227
NM_172107.4(KCNQ2):c.2318dup (p.Cys774fs) rs1555850512
NM_172107.4(KCNQ2):c.232del (p.Gln78fs) rs118192189
NM_172107.4(KCNQ2):c.236A>G (p.Asn79Ser)
NM_172107.4(KCNQ2):c.2378_2391del (p.Val793fs) rs1555850403
NM_172107.4(KCNQ2):c.2425C>T (p.Gln809Ter)
NM_172107.4(KCNQ2):c.242T>C (p.Leu81Pro) rs2145921196
NM_172107.4(KCNQ2):c.2543del (p.Pro848fs)
NM_172107.4(KCNQ2):c.2597del (p.Gly866fs) rs118192245
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.296+1G>A rs118192190
NM_172107.4(KCNQ2):c.297-2A>G rs796052615
NM_172107.4(KCNQ2):c.2T>C (p.Met1Thr) rs118192186
NM_172107.4(KCNQ2):c.314_316del (p.Ser105del) rs118192191
NM_172107.4(KCNQ2):c.319C>T (p.Leu107Phe) rs864321712
NM_172107.4(KCNQ2):c.333_334del (p.Ser113fs) rs796052663
NM_172107.4(KCNQ2):c.340A>G (p.Thr114Ala) rs1057516076
NM_172107.4(KCNQ2):c.356A>G (p.Glu119Gly) rs118192193
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.387+1G>A
NM_172107.4(KCNQ2):c.387+1G>T rs118192195
NM_172107.4(KCNQ2):c.388-1_389del rs118192196
NM_172107.4(KCNQ2):c.388-2A>G rs2145779858
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.460T>G (p.Tyr154Asp) rs1057516078
NM_172107.4(KCNQ2):c.475G>A (p.Gly159Arg) rs1057516080
NM_172107.4(KCNQ2):c.476G>A (p.Gly159Glu) rs1057516081
NM_172107.4(KCNQ2):c.507_514+10del rs2081377258
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.584_593delinsA (p.Ser195_Arg198delinsTer) rs118192197
NM_172107.4(KCNQ2):c.585dup (p.Ala196fs) rs118192198
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val) rs118192199
NM_172107.4(KCNQ2):c.592_594delinsA (p.Arg198fs) rs1057516084
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.4(KCNQ2):c.613A>G (p.Ile205Val) rs1057516087
NM_172107.4(KCNQ2):c.617T>C (p.Leu206Pro) rs1339542565
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.4(KCNQ2):c.622A>G (p.Met208Val) rs118192201
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys) rs796052626
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>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.649A>C (p.Thr217Pro) rs1057516089
NM_172107.4(KCNQ2):c.649A>G (p.Thr217Ala) rs1057516089
NM_172107.4(KCNQ2):c.650C>A (p.Thr217Asn) rs1057516090
NM_172107.4(KCNQ2):c.65_68del (p.Val22fs) rs118192187
NM_172107.4(KCNQ2):c.668_669del (p.Ser223fs)
NM_172107.4(KCNQ2):c.684C>A (p.His228Gln) rs118192204
NM_172107.4(KCNQ2):c.696_698dup (p.Val233dup) rs1600767259
NM_172107.4(KCNQ2):c.700A>G (p.Thr234Ala) rs1057516091
NM_172107.4(KCNQ2):c.716G>T (p.Gly239Val) rs796052630
NM_172107.4(KCNQ2):c.727C>T (p.Leu243Phe) rs118192205
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly) rs118192206
NM_172107.4(KCNQ2):c.761A>C (p.Glu254Ala) rs794727739
NM_172107.4(KCNQ2):c.766G>T (p.Gly256Trp)
NM_172107.4(KCNQ2):c.773A>G (p.Asn258Ser) rs118192207
NM_172107.4(KCNQ2):c.774C>G (p.Asn258Lys) rs770187706
NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn) rs777257591
NM_172107.4(KCNQ2):c.775G>T (p.Asp259Tyr) rs777257591
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.812G>T (p.Gly271Val) rs118192209
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp) rs2145719551
NM_172107.4(KCNQ2):c.847_848insGT (p.Lys283fs) rs118192210
NM_172107.4(KCNQ2):c.851A>G (p.Tyr284Cys) rs28939683
NM_172107.4(KCNQ2):c.869G>A (p.Gly290Asp) rs397514582
NM_172107.4(KCNQ2):c.881C>G (p.Ala294Gly) rs118192211
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr) rs74315390
NM_172107.4(KCNQ2):c.928-1G>C rs1057516102
NM_172107.4(KCNQ2):c.936G>T (p.Leu312Phe) rs2145712758
NM_172107.4(KCNQ2):c.955A>G (p.Lys319Glu) rs2145712576
NM_172107.4(KCNQ2):c.967C>T (p.Gln323Ter) rs118192214
NM_172107.4(KCNQ2):c.998G>A (p.Arg333Gln) rs118192216
nsv1197577

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