ClinVar Miner

List of variants in gene KCNQ2 studied for Early infantile epileptic encephalopathy

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Gene type:
ClinVar version:
Total variants: 226
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HGVS dbSNP
NC_000020.10:g.(?_62037977)_(62103836_?)del
NC_000020.10:g.(?_62044803)_(62045546_?)del
NC_000020.10:g.(?_62059700)_(62065276_?)del
NC_000020.10:g.(?_62062673)_(62065276_?)del
NM_172107.2:c.1067T>C
NM_172107.2:c.1075A>G
NM_172107.2:c.1076C>A
NM_172107.2:c.1259C>T
NM_172107.2:c.128C>T
NM_172107.2:c.1573T>A
NM_172107.2:c.1687G>A
NM_172107.2:c.1742G>A
NM_172107.2:c.1940G>A
NM_172107.2:c.1955C>G
NM_172107.2:c.2072G>A
NM_172107.2:c.2299C>T
NM_172107.2:c.2329C>T
NM_172107.2:c.2465C>T
NM_172107.2:c.2T>A
NM_172107.2:c.319C>T
NM_172107.2:c.583T>C
NM_172107.2:c.593G>A
NM_172107.2:c.601C>T
NM_172107.2:c.998G>A
NM_172107.3(KCNQ2):c.1216A>G (p.Arg406Gly) rs1240338507
NM_172107.3(KCNQ2):c.1270C>T (p.Pro424Ser) rs748120886
NM_172107.3(KCNQ2):c.1324C>T (p.Arg442Cys) rs1354411692
NM_172107.3(KCNQ2):c.1490G>A (p.Arg497His) rs769414365
NM_172107.3(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.3(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.3(KCNQ2):c.1814C>G (p.Thr605Ser) rs751334184
NM_172107.3(KCNQ2):c.1872del (p.Lys625Argfs) rs1568864658
NM_172107.3(KCNQ2):c.2029C>T (p.Arg677Trp)
NM_172107.3(KCNQ2):c.2119G>A (p.Ala707Thr)
NM_172107.3(KCNQ2):c.2245G>T (p.Glu749Ter) rs796052658
NM_172107.3(KCNQ2):c.2252C>T (p.Ser751Leu) rs774002673
NM_172107.3(KCNQ2):c.2266G>A (p.Gly756Ser) rs200909197
NM_172107.3(KCNQ2):c.2278C>T (p.Arg760Cys) rs1449467609
NM_172107.3(KCNQ2):c.2279G>A (p.Arg760His) rs758530960
NM_172107.3(KCNQ2):c.2315C>T (p.Pro772Leu) rs774206764
NM_172107.3(KCNQ2):c.2330C>G (p.Pro777Arg) rs142729516
NM_172107.3(KCNQ2):c.2377G>T (p.Val793Leu) rs377227909
NM_172107.3(KCNQ2):c.2504C>T (p.Ala835Val)
NM_172107.3(KCNQ2):c.543G>A (p.Ala181=) rs1447421194
NM_172107.3(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.3(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.3(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.3(KCNQ2):c.812G>A (p.Gly271Asp)
NM_172107.3(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.3(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172107.3(KCNQ2):c.997C>T (p.Arg333Trp) rs118192215
NM_172107.4(KCNQ2):c.1003C>G (p.Pro335Ala)
NM_172107.4(KCNQ2):c.1003C>T (p.Pro335Ser) rs1555869700
NM_172107.4(KCNQ2):c.1023+9A>G rs201787699
NM_172107.4(KCNQ2):c.1043C>T (p.Ala348Val) rs1568916986
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_172107.4(KCNQ2):c.1065C>T (p.Asp355=) rs200395340
NM_172107.4(KCNQ2):c.106del (p.Arg36fs)
NM_172107.4(KCNQ2):c.1086C>G (p.Tyr362Ter) rs747376305
NM_172107.4(KCNQ2):c.1098G>A (p.Thr366=) rs758961686
NM_172107.4(KCNQ2):c.1109C>G (p.Pro370Arg) rs765394232
NM_172107.4(KCNQ2):c.1117dup (p.Ser373fs)
NM_172107.4(KCNQ2):c.1119-4A>G rs749744963
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs) rs796052657
NM_172107.4(KCNQ2):c.1185G>A (p.Arg395=) rs35430888
NM_172107.4(KCNQ2):c.1211C>A (p.Ala404Asp) rs1060500601
NM_172107.4(KCNQ2):c.1218-1G>A rs1568899375
NM_172107.4(KCNQ2):c.1224C>T (p.Asp408=) rs1060503977
NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu) rs752579642
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1232C>T (p.Pro411Leu) rs754682495
NM_172107.4(KCNQ2):c.1233G>A (p.Pro411=) rs757596960
NM_172107.4(KCNQ2):c.1238C>G (p.Pro413Arg) rs1270343938
NM_172107.4(KCNQ2):c.1239G>A (p.Pro413=) rs372146620
NM_172107.4(KCNQ2):c.1253G>T (p.Gly418Val) rs201750561
NM_172107.4(KCNQ2):c.126C>A (p.Ile42=) rs1555881817
NM_172107.4(KCNQ2):c.1286G>T (p.Cys429Phe)
NM_172107.4(KCNQ2):c.1294C>T (p.Arg432Cys)
NM_172107.4(KCNQ2):c.1301+5C>T rs200872349
NM_172107.4(KCNQ2):c.1301+7C>T rs374877247
NM_172107.4(KCNQ2):c.1301+8G>T rs532111320
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238
NM_172107.4(KCNQ2):c.1386_1387TG[1] (p.Val463fs) rs878855236
NM_172107.4(KCNQ2):c.1407C>T (p.Ala469=) rs1801385
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=) rs370155790
NM_172107.4(KCNQ2):c.1424_1433del (p.Asp475fs)
NM_172107.4(KCNQ2):c.1458C>T (p.Phe486=) rs141951341
NM_172107.4(KCNQ2):c.1467C>T (p.Arg489=) rs767486470
NM_172107.4(KCNQ2):c.1492A>G (p.Ile498Val)
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.1505C>T (p.Ala502Val) rs375264483
NM_172107.4(KCNQ2):c.1506G>A (p.Ala502=) rs780293757
NM_172107.4(KCNQ2):c.1525+1G>A rs118192228
NM_172107.4(KCNQ2):c.1526-2dup
NM_172107.4(KCNQ2):c.1526-6C>A rs763503121
NM_172107.4(KCNQ2):c.1539C>T (p.Pro513=) rs376713245
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974
NM_172107.4(KCNQ2):c.1587C>T (p.Thr529=) rs753417293
NM_172107.4(KCNQ2):c.158T>C (p.Ile53Thr)
NM_172107.4(KCNQ2):c.1592A>T (p.Asp531Val) rs1555854018
NM_172107.4(KCNQ2):c.1631+8C>T rs1406473226
NM_172107.4(KCNQ2):c.1655A>G (p.Lys552Arg)
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.1673G>A (p.Ser558Asn)
NM_172107.4(KCNQ2):c.1680dup (p.Pro561fs)
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031
NM_172107.4(KCNQ2):c.1698C>T (p.Asp566=) rs768228902
NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=) rs61737409
NM_172107.4(KCNQ2):c.1729_1734dup (p.Asp577_Met578dup)
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter) rs118192236
NM_172107.4(KCNQ2):c.1763+3A>G
NM_172107.4(KCNQ2):c.1764-6C>T rs118192239
NM_172107.4(KCNQ2):c.1776C>T (p.Ile592=) rs201868078
NM_172107.4(KCNQ2):c.1799C>T (p.Thr600Met) rs1203090297
NM_172107.4(KCNQ2):c.1811G>A (p.Arg604His) rs1203495492
NM_172107.4(KCNQ2):c.1814C>T (p.Thr605Ile) rs751334184
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=) rs369438374
NM_172107.4(KCNQ2):c.1833G>A (p.Ala611=) rs564630217
NM_172107.4(KCNQ2):c.1834G>A (p.Glu612Lys) rs1180808546
NM_172107.4(KCNQ2):c.1866G>C (p.Arg622=) rs1060503976
NM_172107.4(KCNQ2):c.1870G>A (p.Gly624Arg)
NM_172107.4(KCNQ2):c.1870G>C (p.Gly624Arg) rs771211103
NM_172107.4(KCNQ2):c.1888-3C>T rs772971971
NM_172107.4(KCNQ2):c.1898T>C (p.Met633Thr)
NM_172107.4(KCNQ2):c.1914C>T (p.Asp638=) rs367845107
NM_172107.4(KCNQ2):c.1919T>C (p.Leu640Pro) rs1568862485
NM_172107.4(KCNQ2):c.1927A>C (p.Ile643Leu)
NM_172107.4(KCNQ2):c.1939C>T (p.Arg647Trp)
NM_172107.4(KCNQ2):c.1950C>T (p.Ile650=) rs772067813
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu) rs770730662
NM_172107.4(KCNQ2):c.1998G>A (p.Pro666=) rs777059029
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.4(KCNQ2):c.2006C>T (p.Pro669Leu)
NM_172107.4(KCNQ2):c.2025C>G (p.Asp675Glu) rs553337046
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984
NM_172107.4(KCNQ2):c.2049C>T (p.His683=) rs150982653
NM_172107.4(KCNQ2):c.2052C>T (p.Gly684=) rs764444302
NM_172107.4(KCNQ2):c.2065A>C (p.Ile689Leu) rs201701585
NM_172107.4(KCNQ2):c.2081G>C (p.Ser694Thr) rs769558746
NM_172107.4(KCNQ2):c.2087C>T (p.Thr696Met) rs570139975
NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del) rs758334927
NM_172107.4(KCNQ2):c.2105C>T (p.Ser702Leu)
NM_172107.4(KCNQ2):c.2106G>A (p.Ser702=) rs187252584
NM_172107.4(KCNQ2):c.2118C>T (p.Ala706=) rs777993694
NM_172107.4(KCNQ2):c.2165G>A (p.Ser722Asn) rs980574000
NM_172107.4(KCNQ2):c.2171C>T (p.Pro724Leu)
NM_172107.4(KCNQ2):c.2173C>T (p.Arg725Cys) rs768284828
NM_172107.4(KCNQ2):c.2173_2179dup (p.Gly727fs) rs1060500603
NM_172107.4(KCNQ2):c.2210G>A (p.Gly737Asp)
NM_172107.4(KCNQ2):c.2229G>A (p.Pro743=) rs1481212168
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=) rs139587368
NM_172107.4(KCNQ2):c.2244C>T (p.His748=) rs376327268
NM_172107.4(KCNQ2):c.2259C>T (p.Ser753=) rs749802787
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366
NM_172107.4(KCNQ2):c.2278del (p.Arg760fs) rs1555850590
NM_172107.4(KCNQ2):c.2280C>T (p.Arg760=) rs753696924
NM_172107.4(KCNQ2):c.2312C>T (p.Thr771Ile) rs759258191
NM_172107.4(KCNQ2):c.2326_2327delinsA (p.Pro776fs)
NM_172107.4(KCNQ2):c.2358G>A (p.Thr786=) rs559610397
NM_172107.4(KCNQ2):c.2361dup (p.Ile788fs)
NM_172107.4(KCNQ2):c.2373G>A (p.Pro791=) rs749958721
NM_172107.4(KCNQ2):c.2385C>T (p.His795=) rs143016981
NM_172107.4(KCNQ2):c.240C>T (p.Phe80=) rs961712229
NM_172107.4(KCNQ2):c.244T>A (p.Tyr82Asn)
NM_172107.4(KCNQ2):c.2464G>A (p.Ala822Thr) rs751425807
NM_172107.4(KCNQ2):c.2474C>G (p.Ala825Gly) rs1568858969
NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=) rs140674819
NM_172107.4(KCNQ2):c.2535C>G (p.Leu845=) rs199621855
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045
NM_172107.4(KCNQ2):c.2556G>A (p.Pro852=) rs3810472
NM_172107.4(KCNQ2):c.2560C>T (p.Arg854Cys) rs373536274
NM_172107.4(KCNQ2):c.2571C>T (p.Thr857=) rs764525788
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser) rs587780369
NM_172107.4(KCNQ2):c.303C>G (p.Leu101=) rs145415996
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.321C>T (p.Leu107=) rs757187562
NM_172107.4(KCNQ2):c.348G>A (p.Lys116=)
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.394G>T (p.Val132Leu)
NM_172107.4(KCNQ2):c.402C>T (p.Ile134=) rs140712277
NM_172107.4(KCNQ2):c.414C>T (p.Gly138=)
NM_172107.4(KCNQ2):c.426C>T (p.Phe142=) rs780770793
NM_172107.4(KCNQ2):c.439del (p.Ala147fs) rs1555873981
NM_172107.4(KCNQ2):c.514+4A>T rs1555873930
NM_172107.4(KCNQ2):c.515-9G>A rs755243604
NM_172107.4(KCNQ2):c.515A>G (p.Asp172Gly) rs1555873823
NM_172107.4(KCNQ2):c.570C>T (p.Asn190=) rs116087798
NM_172107.4(KCNQ2):c.571G>A (p.Val191Ile) rs745564113
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln) rs397514581
NM_172107.4(KCNQ2):c.641G>A (p.Arg214Gln)
NM_172107.4(KCNQ2):c.681C>T (p.Ala227=) rs1472366685
NM_172107.4(KCNQ2):c.687del (p.Ser229fs) rs1555873656
NM_172107.4(KCNQ2):c.690+9C>T rs369881492
NM_172107.4(KCNQ2):c.712A>G (p.Ile238Val) rs747050726
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=) rs147882199
NM_172107.4(KCNQ2):c.754T>C (p.Leu252=) rs370174915
NM_172107.4(KCNQ2):c.774C>G (p.Asn258Lys)
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=) rs770187706
NM_172107.4(KCNQ2):c.780_781dup (p.Phe261fs) rs1568932480
NM_172107.4(KCNQ2):c.783_787dup (p.Thr263fs)
NM_172107.4(KCNQ2):c.788C>T (p.Thr263Ile) rs1568932462
NM_172107.4(KCNQ2):c.795G>A (p.Ala265=) rs148654588
NM_172107.4(KCNQ2):c.804C>T (p.Leu268=) rs775450377
NM_172107.4(KCNQ2):c.816+10G>T rs201012161
NM_172107.4(KCNQ2):c.817-10G>A
NM_172107.4(KCNQ2):c.829A>C (p.Thr277Pro)
NM_172107.4(KCNQ2):c.830C>A (p.Thr277Asn)
NM_172107.4(KCNQ2):c.840C>T (p.Tyr280=) rs201556105
NM_172107.4(KCNQ2):c.845del (p.Asp282fs) rs1568927747
NM_172107.4(KCNQ2):c.847A>G (p.Lys283Glu)
NM_172107.4(KCNQ2):c.848del (p.Lys283fs) rs1555870506
NM_172107.4(KCNQ2):c.868G>A (p.Gly290Ser) rs1057516098
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro) rs1060500602
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val) rs118192211
NM_172107.4(KCNQ2):c.888C>T (p.Thr296=) rs370760854
NM_172107.4(KCNQ2):c.900C>T (p.Ile300=) rs764404303
NM_172107.4(KCNQ2):c.915C>G (p.Phe305Leu) rs775918190
NM_172107.4(KCNQ2):c.927+1G>C
NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser) rs1568925719
NM_172107.4(KCNQ2):c.994A>G (p.Arg332Gly) rs1555869758
Single allele

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