ClinVar Miner

List of variants in gene KCNA2 studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 366
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HGVS dbSNP gnomAD frequency
NM_004974.4(KCNA2):c.1392T>G (p.Gly464=) rs115456625 0.00993
NM_004974.4(KCNA2):c.1299A>T (p.Thr433=) rs80034565 0.00121
NM_004974.4(KCNA2):c.213C>T (p.Pro71=) rs116111724 0.00076
NM_004974.4(KCNA2):c.807C>T (p.Thr269=) rs146036196 0.00073
NM_004974.4(KCNA2):c.903C>T (p.Val301=) rs752322953 0.00032
NM_004974.4(KCNA2):c.1047A>G (p.Ala349=) rs371979518 0.00026
NM_004974.4(KCNA2):c.372G>A (p.Glu124=) rs200499541 0.00026
NM_004974.4(KCNA2):c.79G>A (p.Ala27Thr) rs750618978 0.00020
NM_004974.4(KCNA2):c.618C>T (p.Ser206=) rs566902174 0.00013
NM_004974.4(KCNA2):c.1023T>C (p.Leu341=) rs139525148 0.00008
NM_004974.4(KCNA2):c.1143T>C (p.Val381=) rs200847196 0.00007
NM_004974.4(KCNA2):c.30C>T (p.Asp10=) rs757960714 0.00007
NM_004974.4(KCNA2):c.1146G>A (p.Pro382=) rs370714935 0.00006
NM_004974.4(KCNA2):c.292T>C (p.Leu98=) rs369845519 0.00006
NM_004974.4(KCNA2):c.35C>T (p.Ala12Val) rs372822052 0.00006
NM_004974.4(KCNA2):c.1107C>T (p.Val369=) rs141466713 0.00005
NM_004974.4(KCNA2):c.1050G>A (p.Glu350=) rs771963870 0.00004
NM_004974.4(KCNA2):c.1061G>A (p.Arg354Gln) rs374827915 0.00004
NM_004974.4(KCNA2):c.1179A>G (p.Leu393=) rs549281059 0.00004
NM_004974.4(KCNA2):c.168G>A (p.Glu56=) rs768793748 0.00004
NM_004974.4(KCNA2):c.318A>G (p.Leu106=) rs763135225 0.00004
NM_004974.4(KCNA2):c.840C>T (p.Asp280=) rs571429123 0.00004
NM_004974.4(KCNA2):c.972C>T (p.Ser324=) rs765820644 0.00004
NM_004974.4(KCNA2):c.1215G>A (p.Pro405=) rs368489072 0.00003
NM_004974.4(KCNA2):c.363A>G (p.Glu121=) rs747745503 0.00003
NM_004974.4(KCNA2):c.1053C>T (p.Ala351=) rs748008112 0.00002
NM_004974.4(KCNA2):c.1375A>G (p.Met459Val) rs371146552 0.00002
NM_004974.4(KCNA2):c.1450T>C (p.Leu484=) rs139459165 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.590G>A (p.Gly197Asp) rs752985457 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.1014G>C (p.Gly338=) rs975996921 0.00001
NM_004974.4(KCNA2):c.1108G>A (p.Val370Ile) rs756214647 0.00001
NM_004974.4(KCNA2):c.1113C>T (p.Ser371=) rs1022053211 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.1281C>T (p.Ala427=) rs769892809 0.00001
NM_004974.4(KCNA2):c.1385A>G (p.Gln462Arg) rs767147366 0.00001
NM_004974.4(KCNA2):c.1433A>G (p.Lys478Arg) rs1243868138 0.00001
NM_004974.4(KCNA2):c.144A>G (p.Leu48=) rs369373711 0.00001
NM_004974.4(KCNA2):c.1466A>G (p.Tyr489Cys) rs149776127 0.00001
NM_004974.4(KCNA2):c.156C>T (p.Ala52=) rs1444396267 0.00001
NM_004974.4(KCNA2):c.194G>A (p.Arg65Gln) rs1649516324 0.00001
NM_004974.4(KCNA2):c.234C>T (p.Phe78=) rs1384622440 0.00001
NM_004974.4(KCNA2):c.23C>T (p.Pro8Leu) rs1487522107 0.00001
NM_004974.4(KCNA2):c.273C>T (p.Tyr91=) rs750174299 0.00001
NM_004974.4(KCNA2):c.290G>A (p.Arg97Gln) rs1194485302 0.00001
NM_004974.4(KCNA2):c.366G>A (p.Ala122=) rs768027755 0.00001
NM_004974.4(KCNA2):c.397A>G (p.Ile133Val) rs759722211 0.00001
NM_004974.4(KCNA2):c.465C>T (p.Tyr155=) rs752785338 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.552A>G (p.Thr184=) rs1649493531 0.00001
NM_004974.4(KCNA2):c.555G>A (p.Leu185=) rs553243804 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.65C>G (p.Thr22Ser) rs1403692006 0.00001
NM_004974.4(KCNA2):c.745G>A (p.Gly249Ser) rs746926057 0.00001
NM_004974.4(KCNA2):c.792C>A (p.Ile264=) rs200005187 0.00001
NM_004974.4(KCNA2):c.862A>G (p.Met288Val) rs1486839913 0.00001
NM_004974.4(KCNA2):c.885C>T (p.Val295=) rs749777424 0.00001
NM_004974.4(KCNA2):c.891G>T (p.Arg297=) rs538914802 0.00001
NM_004974.4(KCNA2):c.909G>A (p.Arg303=) rs759220639 0.00001
NM_004974.4(KCNA2):c.915C>T (p.Phe305=) rs776140578 0.00001
NM_004974.4(KCNA2):c.9G>A (p.Val3=) rs1217542162 0.00001
NC_000001.11:g.(?_110593873)_(110604802_?)del
NM_004974.4(KCNA2):c.*9361G>A
NM_004974.4(KCNA2):c.1013G>A (p.Gly338Glu) rs1553181301
NM_004974.4(KCNA2):c.1015G>T (p.Val339Phe)
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.1054G>A (p.Asp352Asn)
NM_004974.4(KCNA2):c.1056T>C (p.Asp352=)
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.1074C>T (p.Phe358=) rs749482104
NM_004974.4(KCNA2):c.1080C>T (p.Ser360=) rs1347753369
NM_004974.4(KCNA2):c.1103C>A (p.Ala368Glu) rs2101397307
NM_004974.4(KCNA2):c.1110C>G (p.Val370=) rs746352821
NM_004974.4(KCNA2):c.1118C>A (p.Thr373Lys)
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile) rs1553181282
NM_004974.4(KCNA2):c.1119A>G (p.Thr373=)
NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala) rs1553181280
NM_004974.4(KCNA2):c.1127G>C (p.Gly376Ala) rs1557732017
NM_004974.4(KCNA2):c.1129T>C (p.Tyr377His)
NM_004974.4(KCNA2):c.1130A>G (p.Tyr377Cys)
NM_004974.4(KCNA2):c.1140G>C (p.Met380Ile)
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.1149T>C (p.Thr383=)
NM_004974.4(KCNA2):c.1158G>A (p.Gly386=)
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.1175C>T (p.Ser392Phe) rs2101396713
NM_004974.4(KCNA2):c.1178T>A (p.Leu393Gln)
NM_004974.4(KCNA2):c.1179A>C (p.Leu393=)
NM_004974.4(KCNA2):c.1184C>G (p.Ala395Gly)
NM_004974.4(KCNA2):c.1185G>A (p.Ala395=) rs78349687
NM_004974.4(KCNA2):c.1185G>C (p.Ala395=) rs78349687
NM_004974.4(KCNA2):c.1193G>A (p.Gly398Asp)
NM_004974.4(KCNA2):c.1195G>A (p.Val399Met) rs1064794738
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.120A>G (p.Ser40=) rs1570754076
NM_004974.4(KCNA2):c.1210T>A (p.Leu404Ile) rs2101396443
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.1214C>T (p.Pro405Leu)
NM_004974.4(KCNA2):c.1215G>C (p.Pro405=)
NM_004974.4(KCNA2):c.1216G>A (p.Val406Ile) rs1553181257
NM_004974.4(KCNA2):c.1216G>T (p.Val406Phe) rs1553181257
NM_004974.4(KCNA2):c.1219C>G (p.Pro407Ala) rs1557731896
NM_004974.4(KCNA2):c.1219C>T (p.Pro407Ser) rs1557731896
NM_004974.4(KCNA2):c.1220C>G (p.Pro407Arg) rs2101396301
NM_004974.4(KCNA2):c.1220C>T (p.Pro407Leu)
NM_004974.4(KCNA2):c.1223T>C (p.Val408Ala) rs1570752696
NM_004974.4(KCNA2):c.1223T>G (p.Val408Gly) rs1570752696
NM_004974.4(KCNA2):c.1225A>C (p.Ile409Leu)
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.1254C>T (p.His418=)
NM_004974.4(KCNA2):c.1255C>T (p.Arg419Trp) rs1421981152
NM_004974.4(KCNA2):c.1256G>T (p.Arg419Leu)
NM_004974.4(KCNA2):c.1263_1266del (p.Gly423fs) rs1649454214
NM_004974.4(KCNA2):c.1265_1266del (p.Glu422fs) rs1064796294
NM_004974.4(KCNA2):c.1275A>G (p.Glu425=) rs1468166534
NM_004974.4(KCNA2):c.1276C>T (p.Gln426Ter)
NM_004974.4(KCNA2):c.127C>T (p.Arg43Trp) rs2101404053
NM_004974.4(KCNA2):c.1288T>C (p.Leu430=)
NM_004974.4(KCNA2):c.1297A>G (p.Thr433Ala)
NM_004974.4(KCNA2):c.12C>T (p.Ala4=) rs1570754202
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.1311G>T (p.Lys437Asn)
NM_004974.4(KCNA2):c.1320C>T (p.Ser440=)
NM_004974.4(KCNA2):c.1338A>G (p.Lys446=)
NM_004974.4(KCNA2):c.1340G>T (p.Ser447Ile)
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.1372T>C (p.Tyr458His) rs1649446402
NM_004974.4(KCNA2):c.1380G>T (p.Glu460Asp) rs1649445890
NM_004974.4(KCNA2):c.1383C>T (p.Ile461=)
NM_004974.4(KCNA2):c.1389G>A (p.Glu463=)
NM_004974.4(KCNA2):c.1395A>G (p.Val465=)
NM_004974.4(KCNA2):c.1416T>C (p.Phe472=) rs1181780424
NM_004974.4(KCNA2):c.1417A>G (p.Arg473Gly)
NM_004974.4(KCNA2):c.141G>T (p.Gln47His)
NM_004974.4(KCNA2):c.1422G>A (p.Glu474=) rs2101394728
NM_004974.4(KCNA2):c.1431G>A (p.Leu477=)
NM_004974.4(KCNA2):c.1445G>A (p.Cys482Tyr)
NM_004974.4(KCNA2):c.1464C>T (p.Asn488=)
NM_004974.4(KCNA2):c.1496T>C (p.Val499Ala) rs1017816495
NM_004974.4(KCNA2):c.1499G>A (p.Ter500=)
NM_004974.4(KCNA2):c.150C>A (p.Thr50=)
NM_004974.4(KCNA2):c.151T>C (p.Leu51=) rs2101403936
NM_004974.4(KCNA2):c.155C>T (p.Ala52Val)
NM_004974.4(KCNA2):c.15C>T (p.Thr5=)
NM_004974.4(KCNA2):c.165A>G (p.Pro55=) rs2101403846
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.171C>T (p.Thr57=)
NM_004974.4(KCNA2):c.172C>T (p.Leu58Phe)
NM_004974.4(KCNA2):c.181del (p.Asp61fs)
NM_004974.4(KCNA2):c.189G>T (p.Lys63Asn)
NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter) rs763353895
NM_004974.4(KCNA2):c.196del (p.Arg65_Met66insTer) rs2101403658
NM_004974.4(KCNA2):c.204C>T (p.Tyr68=)
NM_004974.4(KCNA2):c.20A>T (p.Asp7Val)
NM_004974.4(KCNA2):c.212C>T (p.Pro71Leu)
NM_004974.4(KCNA2):c.216C>T (p.Leu72=)
NM_004974.4(KCNA2):c.217C>T (p.Arg73Ter) rs1570753974
NM_004974.4(KCNA2):c.231T>C (p.Phe77=)
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.239G>A (p.Arg80Gln) rs1649513909
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.246C>T (p.Arg82=)
NM_004974.4(KCNA2):c.260C>G (p.Ala87Gly)
NM_004974.4(KCNA2):c.261C>T (p.Ala87=) rs749146957
NM_004974.4(KCNA2):c.267G>A (p.Leu89=)
NM_004974.4(KCNA2):c.276C>T (p.Tyr92=) rs1553181436
NM_004974.4(KCNA2):c.277C>T (p.Gln93Ter) rs1649511099
NM_004974.4(KCNA2):c.282A>G (p.Ser94=) rs1649510855
NM_004974.4(KCNA2):c.282_283del (p.Gly96fs) rs1570753862
NM_004974.4(KCNA2):c.289C>T (p.Arg97Ter)
NM_004974.4(KCNA2):c.298C>T (p.Arg100Ter) rs1649509389
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.315C>T (p.Pro105=) rs2101402754
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>A (p.Arg114=)
NM_004974.4(KCNA2):c.341G>A (p.Arg114Gln)
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.365C>T (p.Ala122Val)
NM_004974.4(KCNA2):c.372G>C (p.Glu124Asp)
NM_004974.4(KCNA2):c.380G>A (p.Arg127Gln)
NM_004974.4(KCNA2):c.384A>G (p.Glu128=)
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.466C>T (p.Pro156Ser) rs1649498927
NM_004974.4(KCNA2):c.468A>T (p.Pro156=)
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.480G>T (p.Gly160=)
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.494T>A (p.Ile165Lys)
NM_004974.4(KCNA2):c.513G>T (p.Met171Ile)
NM_004974.4(KCNA2):c.520C>A (p.Leu174Met) rs2101401415
NM_004974.4(KCNA2):c.522G>C (p.Leu174=) rs1649495668
NM_004974.4(KCNA2):c.531T>A (p.Ile177=)
NM_004974.4(KCNA2):c.534C>A (p.Val178=)
NM_004974.4(KCNA2):c.536G>A (p.Ser179Asn) rs2101401302
NM_004974.4(KCNA2):c.537C>T (p.Ser179=)
NM_004974.4(KCNA2):c.53A>G (p.His18Arg)
NM_004974.4(KCNA2):c.542G>A (p.Cys181Tyr)
NM_004974.4(KCNA2):c.546G>A (p.Leu182=) rs2101401198
NM_004974.4(KCNA2):c.547G>A (p.Glu183Lys) rs1553181398
NM_004974.4(KCNA2):c.551C>T (p.Thr184Ile)
NM_004974.4(KCNA2):c.553T>C (p.Leu185=)
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.576T>C (p.Asn192=) rs1438869224
NM_004974.4(KCNA2):c.582C>T (p.Asp194=) rs2101400875
NM_004974.4(KCNA2):c.585dup (p.His196fs)
NM_004974.4(KCNA2):c.587A>G (p.His196Arg)
NM_004974.4(KCNA2):c.592A>G (p.Ser198Gly) rs1649489553
NM_004974.4(KCNA2):c.611C>G (p.Thr204Ser)
NM_004974.4(KCNA2):c.611C>T (p.Thr204Ile) rs1421276694
NM_004974.4(KCNA2):c.614A>T (p.Tyr205Phe)
NM_004974.4(KCNA2):c.61G>A (p.Asp21Asn)
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.630C>T (p.Ile210=) rs761112803
NM_004974.4(KCNA2):c.631G>A (p.Gly211Arg) rs149727427
NM_004974.4(KCNA2):c.636C>G (p.Tyr212Ter)
NM_004974.4(KCNA2):c.637C>T (p.Gln213Ter)
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.663T>G (p.Pro221=)
NM_004974.4(KCNA2):c.673G>A (p.Val225Ile)
NM_004974.4(KCNA2):c.680C>T (p.Thr227Ile) rs2101400149
NM_004974.4(KCNA2):c.684C>T (p.Leu228=)
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.687C>T (p.Cys229=)
NM_004974.4(KCNA2):c.692T>C (p.Ile231Thr)
NM_004974.4(KCNA2):c.695G>C (p.Trp232Ser) rs1570753354
NM_004974.4(KCNA2):c.69T>C (p.Tyr23=)
NM_004974.4(KCNA2):c.700T>C (p.Ser234Pro) rs2101399899
NM_004974.4(KCNA2):c.711C>T (p.Phe237=) rs776028782
NM_004974.4(KCNA2):c.717G>A (p.Val239=)
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.730T>C (p.Cys244Arg)
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.747C>T (p.Gly249=)
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.765_773del (p.Met255_Ile257del) rs2101399429
NM_004974.4(KCNA2):c.767A>T (p.Asn256Ile) rs2101399466
NM_004974.4(KCNA2):c.773T>A (p.Ile258Asn)
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.785C>T (p.Ala262Val)
NM_004974.4(KCNA2):c.787A>G (p.Ile263Val)
NM_004974.4(KCNA2):c.788T>C (p.Ile263Thr) rs786205231
NM_004974.4(KCNA2):c.789C>A (p.Ile263=) rs2101399331
NM_004974.4(KCNA2):c.794C>G (p.Pro265Arg)
NM_004974.4(KCNA2):c.806C>T (p.Thr269Ile) rs2101399201
NM_004974.4(KCNA2):c.808C>T (p.Leu270=)
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.851G>A (p.Gly284Asp) rs1246925002
NM_004974.4(KCNA2):c.852C>A (p.Gly284=) rs779997835
NM_004974.4(KCNA2):c.861_862del (p.Met288fs)
NM_004974.4(KCNA2):c.863T>C (p.Met288Thr)
NM_004974.4(KCNA2):c.86A>C (p.His29Pro)
NM_004974.4(KCNA2):c.87C>T (p.His29=) rs2101404284
NM_004974.4(KCNA2):c.880C>T (p.Arg294Cys)
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004974.4(KCNA2):c.881G>C (p.Arg294Pro)
NM_004974.4(KCNA2):c.888C>T (p.Ile296=)
NM_004974.4(KCNA2):c.889C>T (p.Arg297Trp) rs1649473972
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_004974.4(KCNA2):c.891G>C (p.Arg297=)
NM_004974.4(KCNA2):c.894G>T (p.Leu298Phe) rs876657390
NM_004974.4(KCNA2):c.894_895delinsAC (p.Val299Leu)
NM_004974.4(KCNA2):c.895G>C (p.Val299Leu) rs1553181334
NM_004974.4(KCNA2):c.900A>C (p.Arg300Ser)
NM_004974.4(KCNA2):c.900A>T (p.Arg300Ser) rs2101398595
NM_004974.4(KCNA2):c.905_906del (p.Val301_Phe302insTer) rs2101398557
NM_004974.4(KCNA2):c.918G>A (p.Lys306=)
NM_004974.4(KCNA2):c.919T>G (p.Leu307Val)
NM_004974.4(KCNA2):c.920T>G (p.Leu307Trp) rs1649471614
NM_004974.4(KCNA2):c.925A>G (p.Arg309Gly) rs2101398407
NM_004974.4(KCNA2):c.928C>T (p.His310Tyr)
NM_004974.4(KCNA2):c.929A>C (p.His310Pro) rs1649470988
NM_004974.4(KCNA2):c.929A>G (p.His310Arg) rs1649470988
NM_004974.4(KCNA2):c.933C>T (p.Ser311=) rs1649470586
NM_004974.4(KCNA2):c.937G>T (p.Gly313Cys) rs2101398263
NM_004974.4(KCNA2):c.939T>C (p.Gly313=)
NM_004974.4(KCNA2):c.941T>C (p.Leu314Pro)
NM_004974.4(KCNA2):c.945G>T (p.Gln315His)
NM_004974.4(KCNA2):c.957G>A (p.Gln319=) rs2101398216
NM_004974.4(KCNA2):c.959C>T (p.Thr320Ile) rs1553181323
NM_004974.4(KCNA2):c.960C>G (p.Thr320=)
NM_004974.4(KCNA2):c.961C>T (p.Leu321Phe) rs1557732226
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.982T>C (p.Leu328=)
NM_004974.4(KCNA2):c.988C>T (p.Leu330Phe)
NM_004974.4(KCNA2):c.991C>T (p.Leu331=) rs2101397993
NM_004974.4(KCNA2):c.997T>C (p.Phe333Leu) rs1557732183

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.