ClinVar Miner

List of variants in gene KCNA2 reported as likely benign for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 121
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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.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.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.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.1450T>C (p.Leu484=) rs139459165 0.00002
NM_004974.4(KCNA2):c.590G>A (p.Gly197Asp) rs752985457 0.00002
NM_004974.4(KCNA2):c.1014G>C (p.Gly338=) rs975996921 0.00001
NM_004974.4(KCNA2):c.1113C>T (p.Ser371=) rs1022053211 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.156C>T (p.Ala52=) rs1444396267 0.00001
NM_004974.4(KCNA2):c.234C>T (p.Phe78=) rs1384622440 0.00001
NM_004974.4(KCNA2):c.273C>T (p.Tyr91=) rs750174299 0.00001
NM_004974.4(KCNA2):c.366G>A (p.Ala122=) rs768027755 0.00001
NM_004974.4(KCNA2):c.465C>T (p.Tyr155=) rs752785338 0.00001
NM_004974.4(KCNA2):c.552A>G (p.Thr184=) rs1649493531 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.885C>T (p.Val295=) rs749777424 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
NM_004974.4(KCNA2):c.1056T>C (p.Asp352=)
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.1110C>G (p.Val370=) rs746352821
NM_004974.4(KCNA2):c.1119A>G (p.Thr373=)
NM_004974.4(KCNA2):c.1149T>C (p.Thr383=)
NM_004974.4(KCNA2):c.1158G>A (p.Gly386=)
NM_004974.4(KCNA2):c.1179A>C (p.Leu393=)
NM_004974.4(KCNA2):c.120A>G (p.Ser40=) rs1570754076
NM_004974.4(KCNA2):c.1215G>C (p.Pro405=)
NM_004974.4(KCNA2):c.1254C>T (p.His418=)
NM_004974.4(KCNA2):c.1256G>T (p.Arg419Leu)
NM_004974.4(KCNA2):c.1275A>G (p.Glu425=) rs1468166534
NM_004974.4(KCNA2):c.1288T>C (p.Leu430=)
NM_004974.4(KCNA2):c.12C>T (p.Ala4=) rs1570754202
NM_004974.4(KCNA2):c.1320C>T (p.Ser440=)
NM_004974.4(KCNA2):c.1338A>G (p.Lys446=)
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.1422G>A (p.Glu474=) rs2101394728
NM_004974.4(KCNA2):c.1431G>A (p.Leu477=)
NM_004974.4(KCNA2):c.1464C>T (p.Asn488=)
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.15C>T (p.Thr5=)
NM_004974.4(KCNA2):c.165A>G (p.Pro55=) rs2101403846
NM_004974.4(KCNA2):c.16G>A (p.Gly6Arg)
NM_004974.4(KCNA2):c.171C>T (p.Thr57=)
NM_004974.4(KCNA2):c.204C>T (p.Tyr68=)
NM_004974.4(KCNA2):c.216C>T (p.Leu72=)
NM_004974.4(KCNA2):c.231T>C (p.Phe77=)
NM_004974.4(KCNA2):c.246C>T (p.Arg82=)
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.282A>G (p.Ser94=) rs1649510855
NM_004974.4(KCNA2):c.315C>T (p.Pro105=) rs2101402754
NM_004974.4(KCNA2):c.340C>A (p.Arg114=)
NM_004974.4(KCNA2):c.341G>A (p.Arg114Gln)
NM_004974.4(KCNA2):c.365C>T (p.Ala122Val)
NM_004974.4(KCNA2):c.384A>G (p.Glu128=)
NM_004974.4(KCNA2):c.468A>T (p.Pro156=)
NM_004974.4(KCNA2):c.480G>T (p.Gly160=)
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.546G>A (p.Leu182=) rs2101401198
NM_004974.4(KCNA2):c.553T>C (p.Leu185=)
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.611C>T (p.Thr204Ile) rs1421276694
NM_004974.4(KCNA2):c.630C>T (p.Ile210=) rs761112803
NM_004974.4(KCNA2):c.663T>G (p.Pro221=)
NM_004974.4(KCNA2):c.684C>T (p.Leu228=)
NM_004974.4(KCNA2):c.687C>T (p.Cys229=)
NM_004974.4(KCNA2):c.69T>C (p.Tyr23=)
NM_004974.4(KCNA2):c.711C>T (p.Phe237=) rs776028782
NM_004974.4(KCNA2):c.717G>A (p.Val239=)
NM_004974.4(KCNA2):c.747C>T (p.Gly249=)
NM_004974.4(KCNA2):c.789C>A (p.Ile263=) rs2101399331
NM_004974.4(KCNA2):c.808C>T (p.Leu270=)
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.87C>T (p.His29=) rs2101404284
NM_004974.4(KCNA2):c.888C>T (p.Ile296=)
NM_004974.4(KCNA2):c.891G>C (p.Arg297=)
NM_004974.4(KCNA2):c.918G>A (p.Lys306=)
NM_004974.4(KCNA2):c.933C>T (p.Ser311=) rs1649470586
NM_004974.4(KCNA2):c.939T>C (p.Gly313=)
NM_004974.4(KCNA2):c.957G>A (p.Gln319=) rs2101398216
NM_004974.4(KCNA2):c.960C>G (p.Thr320=)
NM_004974.4(KCNA2):c.982T>C (p.Leu328=)
NM_004974.4(KCNA2):c.991C>T (p.Leu331=) rs2101397993

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