ClinVar Miner

List of variants in gene KCNA2 reported as uncertain significance for Developmental and epileptic encephalopathy, 32

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Gene type:
ClinVar version:
Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_004974.4(KCNA2):c.1375A>G (p.Met459Val) rs371146552 0.00002
NM_004974.4(KCNA2):c.218G>A (p.Arg73Gln) rs373042266 0.00002
NM_004974.4(KCNA2):c.544C>A (p.Leu182Met) rs367662144 0.00002
NM_004974.4(KCNA2):c.68A>G (p.Tyr23Cys) rs753829876 0.00002
NM_004974.4(KCNA2):c.754A>G (p.Thr252Ala) rs772053786 0.00002
NM_004974.4(KCNA2):c.841G>A (p.Ala281Thr) rs753926939 0.00002
NM_004974.4(KCNA2):c.1108G>A (p.Val370Ile) rs756214647 0.00001
NM_004974.4(KCNA2):c.1154T>C (p.Ile385Thr) rs1197586006 0.00001
NM_004974.4(KCNA2):c.1256G>A (p.Arg419Gln) rs1296710118 0.00001
NM_004974.4(KCNA2):c.1466A>G (p.Tyr489Cys) rs149776127 0.00001
NM_004974.4(KCNA2):c.194G>A (p.Arg65Gln) rs1649516324 0.00001
NM_004974.4(KCNA2):c.23C>T (p.Pro8Leu) rs1487522107 0.00001
NM_004974.4(KCNA2):c.290G>A (p.Arg97Gln) rs1194485302 0.00001
NM_004974.4(KCNA2):c.397A>G (p.Ile133Val) rs759722211 0.00001
NM_004974.4(KCNA2):c.511A>G (p.Met171Val) rs773468235 0.00001
NM_004974.4(KCNA2):c.532G>A (p.Val178Ile) rs762594923 0.00001
NM_004974.4(KCNA2):c.565C>T (p.Arg189Trp) rs770611476 0.00001
NM_004974.4(KCNA2):c.601A>T (p.Thr201Ser) rs1016641998 0.00001
NM_004974.4(KCNA2):c.745G>A (p.Gly249Ser) rs746926057 0.00001
NM_004974.4(KCNA2):c.862A>G (p.Met288Val) rs1486839913 0.00001
NM_004974.4(KCNA2):c.*9361G>A
NM_004974.4(KCNA2):c.1018_1020del (p.Ile340del)
NM_004974.4(KCNA2):c.1022T>C (p.Leu341Pro) rs2101397797
NM_004974.4(KCNA2):c.1028C>T (p.Ser343Phe) rs1557732150
NM_004974.4(KCNA2):c.1028_1037dup (p.Val346_Tyr347insTer) rs2101397670
NM_004974.4(KCNA2):c.1031dup (p.Ser344fs) rs1553181298
NM_004974.4(KCNA2):c.1034C>T (p.Ala345Val) rs2101397708
NM_004974.4(KCNA2):c.1036G>A (p.Val346Met)
NM_004974.4(KCNA2):c.1046C>T (p.Ala349Val)
NM_004974.4(KCNA2):c.1048G>T (p.Glu350Ter)
NM_004974.4(KCNA2):c.1052C>T (p.Ala351Val)
NM_004974.4(KCNA2):c.1054G>A (p.Asp352Asn)
NM_004974.4(KCNA2):c.1060C>T (p.Arg354Ter)
NM_004974.4(KCNA2):c.1065G>T (p.Glu355Asp) rs1308544471
NM_004974.4(KCNA2):c.1067C>G (p.Ser356Cys) rs1317841788
NM_004974.4(KCNA2):c.1071G>T (p.Gln357His)
NM_004974.4(KCNA2):c.1084C>T (p.Pro362Ser)
NM_004974.4(KCNA2):c.1103C>A (p.Ala368Glu) rs2101397307
NM_004974.4(KCNA2):c.1118C>A (p.Thr373Lys)
NM_004974.4(KCNA2):c.1121C>T (p.Thr374Ile)
NM_004974.4(KCNA2):c.1127G>C (p.Gly376Ala) rs1557732017
NM_004974.4(KCNA2):c.1129T>C (p.Tyr377His)
NM_004974.4(KCNA2):c.1144C>G (p.Pro382Ala)
NM_004974.4(KCNA2):c.1145C>T (p.Pro382Leu) rs777008812
NM_004974.4(KCNA2):c.1147A>C (p.Thr383Pro) rs2101396868
NM_004974.4(KCNA2):c.1150A>G (p.Thr384Ala)
NM_004974.4(KCNA2):c.1169T>A (p.Val390Glu)
NM_004974.4(KCNA2):c.1169T>G (p.Val390Gly) rs2101396730
NM_004974.4(KCNA2):c.1171G>T (p.Gly391Cys)
NM_004974.4(KCNA2):c.1172G>A (p.Gly391Asp)
NM_004974.4(KCNA2):c.1175C>T (p.Ser392Phe) rs2101396713
NM_004974.4(KCNA2):c.1178T>A (p.Leu393Gln)
NM_004974.4(KCNA2):c.1184C>G (p.Ala395Gly)
NM_004974.4(KCNA2):c.1196T>G (p.Val399Gly) rs1649457707
NM_004974.4(KCNA2):c.1204A>G (p.Ile402Val) rs1366237350
NM_004974.4(KCNA2):c.1205T>C (p.Ile402Thr) rs2101396495
NM_004974.4(KCNA2):c.1207G>T (p.Ala403Ser)
NM_004974.4(KCNA2):c.1208C>T (p.Ala403Val) rs1649457143
NM_004974.4(KCNA2):c.1211T>C (p.Leu404Ser)
NM_004974.4(KCNA2):c.1213C>T (p.Pro405Ser)
NM_004974.4(KCNA2):c.1214C>G (p.Pro405Arg) rs876657389
NM_004974.4(KCNA2):c.1216G>A (p.Val406Ile) rs1553181257
NM_004974.4(KCNA2):c.1226T>A (p.Ile409Asn)
NM_004974.4(KCNA2):c.1228G>A (p.Val410Met)
NM_004974.4(KCNA2):c.1242C>A (p.Asn414Lys) rs749520613
NM_004974.4(KCNA2):c.1242C>G (p.Asn414Lys) rs749520613
NM_004974.4(KCNA2):c.1248C>A (p.Phe416Leu) rs2101396138
NM_004974.4(KCNA2):c.1250A>G (p.Tyr417Cys) rs1557731858
NM_004974.4(KCNA2):c.1255C>T (p.Arg419Trp) rs1421981152
NM_004974.4(KCNA2):c.1258G>C (p.Glu420Gln)
NM_004974.4(KCNA2):c.1263_1266del (p.Gly423fs) rs1649454214
NM_004974.4(KCNA2):c.1276C>T (p.Gln426Ter)
NM_004974.4(KCNA2):c.127C>T (p.Arg43Trp) rs2101404053
NM_004974.4(KCNA2):c.128G>A (p.Arg43Gln)
NM_004974.4(KCNA2):c.1297A>G (p.Thr433Ala)
NM_004974.4(KCNA2):c.1302C>G (p.Ser434Arg)
NM_004974.4(KCNA2):c.1304G>A (p.Cys435Tyr) rs1553181236
NM_004974.4(KCNA2):c.1304G>C (p.Cys435Ser) rs1553181236
NM_004974.4(KCNA2):c.1307C>T (p.Pro436Leu)
NM_004974.4(KCNA2):c.1311G>T (p.Lys437Asn)
NM_004974.4(KCNA2):c.1340G>T (p.Ser447Ile)
NM_004974.4(KCNA2):c.1346G>A (p.Ser449Asn)
NM_004974.4(KCNA2):c.1354A>G (p.Thr452Ala) rs765999960
NM_004974.4(KCNA2):c.1354A>T (p.Thr452Ser) rs765999960
NM_004974.4(KCNA2):c.136A>G (p.Thr46Ala)
NM_004974.4(KCNA2):c.1372T>C (p.Tyr458His) rs1649446402
NM_004974.4(KCNA2):c.1399A>G (p.Asn467Asp)
NM_004974.4(KCNA2):c.1401_1402del (p.Asn467fs)
NM_004974.4(KCNA2):c.1417A>G (p.Arg473Gly)
NM_004974.4(KCNA2):c.141G>T (p.Gln47His)
NM_004974.4(KCNA2):c.1422G>C (p.Glu474Asp)
NM_004974.4(KCNA2):c.1442A>G (p.Asn481Ser)
NM_004974.4(KCNA2):c.1445G>A (p.Cys482Tyr)
NM_004974.4(KCNA2):c.1477A>G (p.Thr493Ala)
NM_004974.4(KCNA2):c.1496T>C (p.Val499Ala) rs1017816495
NM_004974.4(KCNA2):c.155C>T (p.Ala52Val)
NM_004974.4(KCNA2):c.166G>C (p.Glu56Gln)
NM_004974.4(KCNA2):c.16G>A (p.Gly6Arg)
NM_004974.4(KCNA2):c.170C>T (p.Thr57Ile) rs1649517174
NM_004974.4(KCNA2):c.172C>T (p.Leu58Phe)
NM_004974.4(KCNA2):c.189G>T (p.Lys63Asn)
NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter) rs763353895
NM_004974.4(KCNA2):c.196A>G (p.Met66Val)
NM_004974.4(KCNA2):c.20A>T (p.Asp7Val)
NM_004974.4(KCNA2):c.212C>T (p.Pro71Leu)
NM_004974.4(KCNA2):c.217C>T (p.Arg73Ter) rs1570753974
NM_004974.4(KCNA2):c.235G>A (p.Asp79Asn) rs747844549
NM_004974.4(KCNA2):c.235G>C (p.Asp79His)
NM_004974.4(KCNA2):c.235G>T (p.Asp79Tyr) rs747844549
NM_004974.4(KCNA2):c.238C>T (p.Arg80Trp) rs1448937059
NM_004974.4(KCNA2):c.23C>A (p.Pro8Gln)
NM_004974.4(KCNA2):c.244C>T (p.Arg82Cys) rs1433727837
NM_004974.4(KCNA2):c.245G>A (p.Arg82His) rs1386301058
NM_004974.4(KCNA2):c.25G>A (p.Ala9Thr)
NM_004974.4(KCNA2):c.260C>G (p.Ala87Gly)
NM_004974.4(KCNA2):c.277C>T (p.Gln93Ter) rs1649511099
NM_004974.4(KCNA2):c.282_283del (p.Gly96fs) rs1570753862
NM_004974.4(KCNA2):c.289C>T (p.Arg97Ter)
NM_004974.4(KCNA2):c.299G>A (p.Arg100Gln) rs1649509246
NM_004974.4(KCNA2):c.308A>C (p.Asn103Thr)
NM_004974.4(KCNA2):c.308A>G (p.Asn103Ser) rs1361080553
NM_004974.4(KCNA2):c.317T>C (p.Leu106Ser) rs2101402741
NM_004974.4(KCNA2):c.329C>T (p.Ser110Phe) rs1649507829
NM_004974.4(KCNA2):c.340C>T (p.Arg114Trp)
NM_004974.4(KCNA2):c.351G>T (p.Glu117Asp) rs1649507257
NM_004974.4(KCNA2):c.356G>A (p.Gly119Glu)
NM_004974.4(KCNA2):c.356G>C (p.Gly119Ala)
NM_004974.4(KCNA2):c.362A>G (p.Glu121Gly)
NM_004974.4(KCNA2):c.364G>A (p.Ala122Thr) rs1366378482
NM_004974.4(KCNA2):c.372G>C (p.Glu124Asp)
NM_004974.4(KCNA2):c.380G>A (p.Arg127Gln)
NM_004974.4(KCNA2):c.38C>T (p.Ala13Val)
NM_004974.4(KCNA2):c.412C>T (p.Arg138Cys)
NM_004974.4(KCNA2):c.422C>A (p.Pro141His) rs1649502580
NM_004974.4(KCNA2):c.43C>G (p.Leu15Val) rs1649522982
NM_004974.4(KCNA2):c.443_454del (p.Gln148_Leu151del) rs2101401796
NM_004974.4(KCNA2):c.448T>C (p.Trp150Arg) rs1649500367
NM_004974.4(KCNA2):c.450G>T (p.Trp150Cys) rs2101401817
NM_004974.4(KCNA2):c.457T>C (p.Phe153Leu)
NM_004974.4(KCNA2):c.466C>T (p.Pro156Ser) rs1649498927
NM_004974.4(KCNA2):c.46C>T (p.Pro16Ser) rs1570754155
NM_004974.4(KCNA2):c.47C>G (p.Pro16Arg) rs1649522718
NM_004974.4(KCNA2):c.485C>A (p.Ala162Asp)
NM_004974.4(KCNA2):c.488G>A (p.Arg163Lys)
NM_004974.4(KCNA2):c.490A>G (p.Ile164Val)
NM_004974.4(KCNA2):c.506C>T (p.Ser169Phe)
NM_004974.4(KCNA2):c.513G>T (p.Met171Ile)
NM_004974.4(KCNA2):c.520C>A (p.Leu174Met) rs2101401415
NM_004974.4(KCNA2):c.527C>T (p.Ser176Leu)
NM_004974.4(KCNA2):c.53A>G (p.His18Arg)
NM_004974.4(KCNA2):c.542G>A (p.Cys181Tyr)
NM_004974.4(KCNA2):c.547G>A (p.Glu183Lys) rs1553181398
NM_004974.4(KCNA2):c.551C>T (p.Thr184Ile)
NM_004974.4(KCNA2):c.559A>G (p.Ile187Val)
NM_004974.4(KCNA2):c.566G>A (p.Arg189Gln)
NM_004974.4(KCNA2):c.569A>T (p.Asp190Val)
NM_004974.4(KCNA2):c.587A>G (p.His196Arg)
NM_004974.4(KCNA2):c.592A>G (p.Ser198Gly) rs1649489553
NM_004974.4(KCNA2):c.595G>A (p.Gly199Arg)
NM_004974.4(KCNA2):c.611C>G (p.Thr204Ser)
NM_004974.4(KCNA2):c.614A>C (p.Tyr205Ser)
NM_004974.4(KCNA2):c.614A>T (p.Tyr205Phe)
NM_004974.4(KCNA2):c.61G>A (p.Asp21Asn)
NM_004974.4(KCNA2):c.620A>G (p.Asn207Ser)
NM_004974.4(KCNA2):c.621C>A (p.Asn207Lys)
NM_004974.4(KCNA2):c.622A>G (p.Ser208Gly)
NM_004974.4(KCNA2):c.625A>G (p.Thr209Ala) rs1649486218
NM_004974.4(KCNA2):c.626C>T (p.Thr209Ile)
NM_004974.4(KCNA2):c.627del (p.Ile210fs) rs1649486083
NM_004974.4(KCNA2):c.628A>G (p.Ile210Val) rs1649485938
NM_004974.4(KCNA2):c.631G>A (p.Gly211Arg) rs149727427
NM_004974.4(KCNA2):c.640C>A (p.Gln214Lys)
NM_004974.4(KCNA2):c.647C>T (p.Thr216Ile)
NM_004974.4(KCNA2):c.650C>A (p.Ser217Tyr)
NM_004974.4(KCNA2):c.653dup (p.Thr219fs)
NM_004974.4(KCNA2):c.656C>A (p.Thr219Lys)
NM_004974.4(KCNA2):c.673G>A (p.Val225Ile)
NM_004974.4(KCNA2):c.680C>T (p.Thr227Ile) rs2101400149
NM_004974.4(KCNA2):c.684_685del (p.Cys229fs) rs1649483920
NM_004974.4(KCNA2):c.686G>A (p.Cys229Tyr) rs2101400052
NM_004974.4(KCNA2):c.692T>C (p.Ile231Thr)
NM_004974.4(KCNA2):c.694T>A (p.Trp232Arg) rs1553181370
NM_004974.4(KCNA2):c.695G>C (p.Trp232Ser) rs1570753354
NM_004974.4(KCNA2):c.696G>C (p.Trp232Cys)
NM_004974.4(KCNA2):c.700T>C (p.Ser234Pro) rs2101399899
NM_004974.4(KCNA2):c.71A>C (p.Asp24Ala)
NM_004974.4(KCNA2):c.720_721del (p.Arg240fs)
NM_004974.4(KCNA2):c.727G>C (p.Ala243Pro)
NM_004974.4(KCNA2):c.731G>A (p.Cys244Tyr) rs2101399724
NM_004974.4(KCNA2):c.737G>T (p.Ser246Ile) rs1649481724
NM_004974.4(KCNA2):c.746G>C (p.Gly249Ala)
NM_004974.4(KCNA2):c.74C>T (p.Pro25Leu)
NM_004974.4(KCNA2):c.761T>A (p.Ile254Asn) rs1649480102
NM_004974.4(KCNA2):c.764T>A (p.Met255Lys)
NM_004974.4(KCNA2):c.767A>G (p.Asn256Ser)
NM_004974.4(KCNA2):c.767A>T (p.Asn256Ile) rs2101399466
NM_004974.4(KCNA2):c.776A>C (p.Asp259Ala) rs1649479585
NM_004974.4(KCNA2):c.781G>T (p.Val261Leu)
NM_004974.4(KCNA2):c.782T>C (p.Val261Ala) rs1649479037
NM_004974.4(KCNA2):c.787A>G (p.Ile263Val)
NM_004974.4(KCNA2):c.790A>G (p.Ile264Val)
NM_004974.4(KCNA2):c.794C>G (p.Pro265Arg)
NM_004974.4(KCNA2):c.806C>T (p.Thr269Ile) rs2101399201
NM_004974.4(KCNA2):c.808del (p.Leu270fs) rs2101399144
NM_004974.4(KCNA2):c.815dup (p.Glu273fs)
NM_004974.4(KCNA2):c.841G>T (p.Ala281Ser) rs753926939
NM_004974.4(KCNA2):c.844C>T (p.Gln282Ter) rs1570753182
NM_004974.4(KCNA2):c.861_862del (p.Met288fs)
NM_004974.4(KCNA2):c.862A>T (p.Met288Leu)
NM_004974.4(KCNA2):c.863T>C (p.Met288Thr)
NM_004974.4(KCNA2):c.86A>C (p.His29Pro)
NM_004974.4(KCNA2):c.880C>T (p.Arg294Cys)
NM_004974.4(KCNA2):c.889C>A (p.Arg297=)
NM_004974.4(KCNA2):c.894_895delinsAC (p.Val299Leu)
NM_004974.4(KCNA2):c.895G>C (p.Val299Leu) rs1553181334
NM_004974.4(KCNA2):c.905_906del (p.Val301_Phe302insTer) rs2101398557
NM_004974.4(KCNA2):c.920T>G (p.Leu307Trp) rs1649471614
NM_004974.4(KCNA2):c.928C>T (p.His310Tyr)
NM_004974.4(KCNA2):c.929A>C (p.His310Pro) rs1649470988
NM_004974.4(KCNA2):c.937G>T (p.Gly313Cys) rs2101398263
NM_004974.4(KCNA2):c.939del (p.Leu314fs)
NM_004974.4(KCNA2):c.941T>C (p.Leu314Pro)
NM_004974.4(KCNA2):c.945G>T (p.Gln315His)
NM_004974.4(KCNA2):c.961C>T (p.Leu321Phe) rs1557732226
NM_004974.4(KCNA2):c.967G>A (p.Ala323Thr)
NM_004974.4(KCNA2):c.974T>A (p.Met325Lys) rs2101398110
NM_004974.4(KCNA2):c.980A>T (p.Glu327Val) rs2101398077
NM_004974.4(KCNA2):c.997T>C (p.Phe333Leu) rs1557732183

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