ClinVar Miner

List of variants in gene KCNQ2 reported as likely pathogenic for epilepsy

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.1887+5G>A rs777916008 0.00004
NM_172107.4(KCNQ2):c.2315C>T (p.Pro772Leu) rs774206764 0.00004
NM_172107.4(KCNQ2):c.1811G>A (p.Arg604His) rs1203495492 0.00002
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys) rs897976020 0.00001
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NC_000020.10:g.(?_62050952)_(62070093_?)dup
NC_000020.10:g.(?_62050952)_(62078210_?)del
NC_000020.10:g.(?_62055510)_(62073904_?)dup
NC_000020.10:g.(?_62062673)_(62065276_?)dup
NC_000020.10:g.(?_62065192)_(62071475_?)del
NC_000020.10:g.(?_62069958)_(62070093_?)del
NC_000020.10:g.(?_62069958)_(62078210_?)dup
NC_000020.11:g.(?_63406624)_(63407395_?)del
NM_172107.4(KCNQ2):c.1003C>T (p.Pro335Ser) rs1555869700
NM_172107.4(KCNQ2):c.1016T>A (p.Leu339Gln) rs118192217
NM_172107.4(KCNQ2):c.1023+2T>C
NM_172107.4(KCNQ2):c.1025C>T (p.Ser342Leu) rs2080907267
NM_172107.4(KCNQ2):c.1027G>C (p.Ala343Pro)
NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg) rs1057516105
NM_172107.4(KCNQ2):c.1045A>C (p.Thr349Pro) rs2145680256
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile) rs2080906453
NM_172107.4(KCNQ2):c.1048A>T (p.Asn350Tyr)
NM_172107.4(KCNQ2):c.1050C>A (p.Asn350Lys) rs1371059392
NM_172107.4(KCNQ2):c.1052T>G (p.Leu351Arg) rs2145680143
NM_172107.4(KCNQ2):c.1055C>G (p.Ser352Trp)
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_172107.4(KCNQ2):c.1064A>T (p.Asp355Val) rs2080905274
NM_172107.4(KCNQ2):c.1065C>A (p.Asp355Glu) rs200395340
NM_172107.4(KCNQ2):c.1067T>G (p.Leu356Arg) rs1057518772
NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met) rs118192219
NM_172107.4(KCNQ2):c.1080G>T (p.Trp360Cys) rs1600732174
NM_172107.4(KCNQ2):c.1089C>G (p.Tyr363Ter) rs1185859533
NM_172107.4(KCNQ2):c.1123C>T (p.Gln375Ter) rs756360226
NM_172107.4(KCNQ2):c.1148+2T>A
NM_172107.4(KCNQ2):c.1149-1G>T rs1600714727
NM_172107.4(KCNQ2):c.1154dup (p.Leu388fs) rs2145637592
NM_172107.4(KCNQ2):c.1168C>T (p.Gln390Ter) rs2145637412
NM_172107.4(KCNQ2):c.1218-1G>A rs1568899375
NM_172107.4(KCNQ2):c.1301+2T>G
NM_172107.4(KCNQ2):c.1302-162_1511delinsA
NM_172107.4(KCNQ2):c.1302-1G>A
NM_172107.4(KCNQ2):c.1328_1350del (p.Val443fs)
NM_172107.4(KCNQ2):c.1378G>A (p.Ala460Thr) rs1284566908
NM_172107.4(KCNQ2):c.1525G>T (p.Glu509Ter)
NM_172107.4(KCNQ2):c.1549_1550insAGATGTC (p.Ile517fs)
NM_172107.4(KCNQ2):c.1618A>G (p.Ile540Val) rs2145547478
NM_172107.4(KCNQ2):c.1619T>G (p.Ile540Ser) rs2080210194
NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr) rs1555853970
NM_172107.4(KCNQ2):c.1623_1631+5del rs2145547209
NM_172107.4(KCNQ2):c.1632-6C>A
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.1639C>G (p.Arg547Gly) rs796052650
NM_172107.4(KCNQ2):c.1640G>T (p.Arg547Leu)
NM_172107.4(KCNQ2):c.1657C>G (p.Arg553Gly)
NM_172107.4(KCNQ2):c.1658G>C (p.Arg553Pro) rs118192234
NM_172107.4(KCNQ2):c.1663T>A (p.Phe555Ile) rs2145542277
NM_172107.4(KCNQ2):c.1663T>C (p.Phe555Leu)
NM_172107.4(KCNQ2):c.1666A>C (p.Lys556Gln)
NM_172107.4(KCNQ2):c.1667A>G (p.Lys556Arg)
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.1679G>C (p.Arg560Pro) rs1057517919
NM_172107.4(KCNQ2):c.1690G>A (p.Val564Met)
NM_172107.4(KCNQ2):c.1720G>A (p.Gly574Ser) rs2080187424
NM_172107.4(KCNQ2):c.1721G>A (p.Gly574Asp) rs796052654
NM_172107.4(KCNQ2):c.1732A>C (p.Met578Leu) rs1057516123
NM_172107.4(KCNQ2):c.1732A>G (p.Met578Val) rs1057516123
NM_172107.4(KCNQ2):c.1735C>G (p.Leu579Val)
NM_172107.4(KCNQ2):c.1749G>C (p.Lys583Asn) rs2145541173
NM_172107.4(KCNQ2):c.1763+2C>G
NM_172107.4(KCNQ2):c.1763+4A>G rs2145541064
NM_172107.4(KCNQ2):c.1764-1G>A
NM_172107.4(KCNQ2):c.1887+2del
NM_172107.4(KCNQ2):c.2156del (p.Gln719fs)
NM_172107.4(KCNQ2):c.2173_2179dup (p.Gly727fs) rs1060500603
NM_172107.4(KCNQ2):c.2251T>G (p.Ser751Ala)
NM_172107.4(KCNQ2):c.236del (p.Asn79fs)
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.26G>A (p.Gly9Asp)
NM_172107.4(KCNQ2):c.296+2T>C
NM_172107.4(KCNQ2):c.297-1G>C rs2081442293
NM_172107.4(KCNQ2):c.300CCT[1] (p.Leu102del) rs1064795435
NM_172107.4(KCNQ2):c.302T>A (p.Leu101His) rs2081442073
NM_172107.4(KCNQ2):c.316T>G (p.Cys106Gly) rs2145789722
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.367del (p.Glu123fs) rs2145789218
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys) rs796052617
NM_172107.4(KCNQ2):c.380A>T (p.Tyr127Phe) rs796052617
NM_172107.4(KCNQ2):c.385C>G (p.Leu129Val) rs1381622639
NM_172107.4(KCNQ2):c.387+1G>A
NM_172107.4(KCNQ2):c.387+2T>C rs2145789008
NM_172107.4(KCNQ2):c.388-1G>A rs6089914
NM_172107.4(KCNQ2):c.388-2A>G rs2145779858
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met) rs1600789325
NM_172107.4(KCNQ2):c.401T>A (p.Ile134Asn) rs2145779680
NM_172107.4(KCNQ2):c.419A>C (p.Glu140Ala) rs2145779552
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly) rs1555873985
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.461A>G (p.Tyr154Cys)
NM_172107.4(KCNQ2):c.476G>T (p.Gly159Val) rs1057516081
NM_172107.4(KCNQ2):c.49G>T (p.Glu17Ter) rs2145922320
NM_172107.4(KCNQ2):c.514+1G>A rs2145778708
NM_172107.4(KCNQ2):c.514+2T>C
NM_172107.4(KCNQ2):c.514G>A (p.Asp172Asn)
NM_172107.4(KCNQ2):c.515A>G (p.Asp172Gly) rs1555873823
NM_172107.4(KCNQ2):c.516CAT[1] (p.Ile173del)
NM_172107.4(KCNQ2):c.533C>T (p.Ala178Val) rs2145776110
NM_172107.4(KCNQ2):c.543G>A (p.Ala181=) rs1447421194
NM_172107.4(KCNQ2):c.544G>A (p.Val182Met) rs1085307920
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.562C>A (p.Gln188Lys) rs2081363302
NM_172107.4(KCNQ2):c.563A>G (p.Gln188Arg)
NM_172107.4(KCNQ2):c.564G>C (p.Gln188His)
NM_172107.4(KCNQ2):c.566G>A (p.Gly189Asp)
NM_172107.4(KCNQ2):c.568A>C (p.Asn190His)
NM_172107.4(KCNQ2):c.578C>T (p.Ala193Val) rs796052619
NM_172107.4(KCNQ2):c.581C>T (p.Thr194Ile) rs2081362775
NM_172107.4(KCNQ2):c.584C>G (p.Ser195Cys) rs1568940442
NM_172107.4(KCNQ2):c.584C>T (p.Ser195Phe) rs1568940442
NM_172107.4(KCNQ2):c.592C>T (p.Arg198Trp) rs2145775614
NM_172107.4(KCNQ2):c.593G>C (p.Arg198Pro) rs796052621
NM_172107.4(KCNQ2):c.617T>C (p.Leu206Pro) rs1339542565
NM_172107.4(KCNQ2):c.617T>G (p.Leu206Arg) rs1339542565
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys) rs796052626
NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro) rs886041262
NM_172107.4(KCNQ2):c.631A>G (p.Met211Val) rs1057524599
NM_172107.4(KCNQ2):c.634G>A (p.Asp212Asn)
NM_172107.4(KCNQ2):c.634dup (p.Asp212fs)
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.638G>T (p.Arg213Leu) rs397514581
NM_172107.4(KCNQ2):c.649A>C (p.Thr217Pro) rs1057516089
NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)
NM_172107.4(KCNQ2):c.668C>T (p.Ser223Phe) rs2145774638
NM_172107.4(KCNQ2):c.670G>C (p.Val224Leu) rs2145774625
NM_172107.4(KCNQ2):c.680C>T (p.Ala227Val) rs2145774563
NM_172107.4(KCNQ2):c.682C>G (p.His228Asp)
NM_172107.4(KCNQ2):c.685A>G (p.Ser229Gly)
NM_172107.4(KCNQ2):c.689A>T (p.Lys230Met) rs2081358317
NM_172107.4(KCNQ2):c.690+1G>A rs2145774426
NM_172107.4(KCNQ2):c.690+2_690+19del
NM_172107.4(KCNQ2):c.691-1G>A rs2145736858
NM_172107.4(KCNQ2):c.693G>C (p.Glu231Asp) rs797044938
NM_172107.4(KCNQ2):c.696_698dup (p.Val233dup) rs1600767259
NM_172107.4(KCNQ2):c.703G>A (p.Ala235Thr) rs2081192615
NM_172107.4(KCNQ2):c.704C>G (p.Ala235Gly)
NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val) rs797045638
NM_172107.4(KCNQ2):c.706T>C (p.Trp236Arg) rs942541730
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>A (p.Cys242Tyr) rs2081191454
NM_172107.4(KCNQ2):c.727C>G (p.Leu243Val) rs118192205
NM_172107.4(KCNQ2):c.733C>G (p.Leu245Val)
NM_172107.4(KCNQ2):c.739T>C (p.Ser247Pro)
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.4(KCNQ2):c.757G>A (p.Ala253Thr) rs1057516093
NM_172107.4(KCNQ2):c.762G>C (p.Glu254Asp) rs2081189736
NM_172107.4(KCNQ2):c.763A>C (p.Lys255Gln)
NM_172107.4(KCNQ2):c.766G>A (p.Gly256Arg) rs1057518500
NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn) rs777257591
NM_172107.4(KCNQ2):c.776A>G (p.Asp259Gly) rs1057518489
NM_172107.4(KCNQ2):c.778C>T (p.His260Tyr) rs1555871832
NM_172107.4(KCNQ2):c.782T>C (p.Phe261Ser) rs796052631
NM_172107.4(KCNQ2):c.782T>G (p.Phe261Cys) rs796052631
NM_172107.4(KCNQ2):c.787A>G (p.Thr263Ala) rs2081188385
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.796G>A (p.Asp266Asn)
NM_172107.4(KCNQ2):c.797A>T (p.Asp266Val)
NM_172107.4(KCNQ2):c.799G>A (p.Ala267Thr) rs2145735332
NM_172107.4(KCNQ2):c.806G>C (p.Trp269Ser) rs796052633
NM_172107.4(KCNQ2):c.810G>T (p.Trp270Cys) rs2081187047
NM_172107.4(KCNQ2):c.811G>A (p.Gly271Ser) rs1064797284
NM_172107.4(KCNQ2):c.811G>C (p.Gly271Arg) rs1064797284
NM_172107.4(KCNQ2):c.812G>A (p.Gly271Asp) rs118192209
NM_172107.4(KCNQ2):c.816+2T>A rs2081186625
NM_172107.4(KCNQ2):c.816+2T>C
NM_172107.4(KCNQ2):c.816+2T>G
NM_172107.4(KCNQ2):c.817-1G>A rs2145719805
NM_172107.4(KCNQ2):c.817-2A>G
NM_172107.4(KCNQ2):c.820A>T (p.Thr274Ser)
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.4(KCNQ2):c.826A>C (p.Thr276Pro)
NM_172107.4(KCNQ2):c.829A>T (p.Thr277Ser) rs1555870554
NM_172107.4(KCNQ2):c.830C>A (p.Thr277Asn) rs1600755607
NM_172107.4(KCNQ2):c.832A>T (p.Ile278Phe) rs780872303
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728
NM_172107.4(KCNQ2):c.834T>G (p.Ile278Met) rs1272165811
NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp) rs2145719551
NM_172107.4(KCNQ2):c.836G>T (p.Gly279Val)
NM_172107.4(KCNQ2):c.841G>C (p.Gly281Arg) rs794727813
NM_172107.4(KCNQ2):c.844G>A (p.Asp282Asn) rs796052636
NM_172107.4(KCNQ2):c.844G>C (p.Asp282His) rs796052636
NM_172107.4(KCNQ2):c.847A>G (p.Lys283Glu) rs1600755429
NM_172107.4(KCNQ2):c.853C>T (p.Pro285Ser) rs2081101244
NM_172107.4(KCNQ2):c.868G>T (p.Gly290Cys)
NM_172107.4(KCNQ2):c.873G>C (p.Arg291Ser) rs1057519535
NM_172107.4(KCNQ2):c.874C>T (p.Leu292Phe)
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro) rs1060500602
NM_172107.4(KCNQ2):c.880G>A (p.Ala294Thr)
NM_172107.4(KCNQ2):c.880G>T (p.Ala294Ser) rs2081099858
NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp) rs1131691936
NM_172107.4(KCNQ2):c.902G>T (p.Gly301Val) rs1131691936
NM_172107.4(KCNQ2):c.904G>T (p.Val302Phe)
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_172107.4(KCNQ2):c.911T>C (p.Phe304Ser) rs1057516100
NM_172107.4(KCNQ2):c.911T>G (p.Phe304Cys) rs1057516100
NM_172107.4(KCNQ2):c.914T>C (p.Phe305Ser)
NM_172107.4(KCNQ2):c.915C>A (p.Phe305Leu) rs775918190
NM_172107.4(KCNQ2):c.917C>A (p.Ala306Glu) rs864321707
NM_172107.4(KCNQ2):c.922C>T (p.Pro308Ser)
NM_172107.4(KCNQ2):c.923C>T (p.Pro308Leu)
NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser) rs1568925719
NM_172107.4(KCNQ2):c.936G>T (p.Leu312Phe) rs2145712758
NM_172107.4(KCNQ2):c.937G>T (p.Gly313Trp) rs796052639
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr) rs1600751236
NM_172107.4(KCNQ2):c.950C>T (p.Ala317Val)
NM_172107.4(KCNQ2):c.955A>G (p.Lys319Glu) rs2145712576
NM_172107.4(KCNQ2):c.958G>A (p.Val320Ile) rs2145712541
NM_172107.4(KCNQ2):c.970C>T (p.His324Tyr) rs2145712459
NM_172107.4(KCNQ2):c.994A>G (p.Arg332Gly) rs1555869758
NM_172107.4(KCNQ2):c.995G>A (p.Arg332Lys) rs796052640
NM_172107.4(KCNQ2):c.998G>T (p.Arg333Leu)

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