ClinVar Miner

List of variants in gene KCNA1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309 0.75219
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910 0.50318
NM_000217.3(KCNA1):c.*1681T>C rs7974459 0.49866
NM_000217.3(KCNA1):c.*406C>T rs4766311 0.48547
NM_000217.3(KCNA1):c.*3062T>C rs10849174 0.47680
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500 0.46819
NM_000217.3(KCNA1):c.*9G>A rs4766310 0.45248
NM_000217.3(KCNA1):c.-110G>A rs35678382 0.12116
NM_000217.3(KCNA1):c.*2174C>T rs73050551 0.04497
NM_000217.3(KCNA1):c.*5141G>A rs41482147 0.04492
NM_000217.3(KCNA1):c.*1524A>G rs79357862 0.04290
NM_000217.3(KCNA1):c.-134G>T rs12817318 0.03550
NM_000217.3(KCNA1):c.*5145T>C rs11063406 0.02510
NM_000217.3(KCNA1):c.*2308C>G rs114342545 0.01314
NM_000217.3(KCNA1):c.*3724C>T rs73050554 0.01288
NM_000217.3(KCNA1):c.*1522C>G rs140297443 0.01151
NM_000217.3(KCNA1):c.*228A>C rs142908193 0.00937
NM_000217.3(KCNA1):c.*2123A>G rs77647135 0.00881
NM_000217.3(KCNA1):c.*2005G>A rs76783799 0.00798
NM_000217.3(KCNA1):c.*786G>A rs148607588 0.00564
NM_000217.3(KCNA1):c.*2245C>G rs76258625 0.00350
NM_000217.3(KCNA1):c.1296C>G (p.Ser432=) rs76066681 0.00299
NM_000217.3(KCNA1):c.237G>A (p.Glu79=) rs149110871 0.00280
NM_000217.3(KCNA1):c.-1043C>T rs11831571 0.00257
NM_000217.3(KCNA1):c.*1469G>A rs536746031 0.00179
NM_000217.3(KCNA1):c.-235C>A rs113587682 0.00086
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly) rs150849316 0.00078
NM_000217.3(KCNA1):c.611G>A (p.Arg204His) rs2229000 0.00063
NM_000217.3(KCNA1):c.*3588T>C rs535813845 0.00062
NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=) rs144351014 0.00038
NM_000217.3(KCNA1):c.136C>A (p.Leu46Met) rs149959487 0.00021
NM_000217.3(KCNA1):c.60G>C (p.Gln20His) rs201504073 0.00020
NM_000217.3(KCNA1):c.114C>T (p.Arg38=) rs146308797 0.00015
NM_000217.3(KCNA1):c.1449A>T (p.Gln483His) rs372539672 0.00004
NM_000217.3(KCNA1):c.240C>T (p.Tyr80=) rs368673884 0.00004
NM_000217.3(KCNA1):c.53A>C (p.His18Pro) rs367921276 0.00003
NM_000217.3(KCNA1):c.*5191G>A rs575078827 0.00002
NM_000217.3(KCNA1):c.61G>A (p.Asp21Asn) rs747465523 0.00002
NM_000217.3(KCNA1):c.1015C>T (p.Leu339=) rs372832102 0.00001
NM_000217.3(KCNA1):c.1311T>G (p.Ser437=) rs1565433583 0.00001
NM_000217.3(KCNA1):c.1346T>C (p.Met449Thr) rs1481224137 0.00001
NM_000217.3(KCNA1):c.208A>G (p.Met70Val) rs1220977526 0.00001
NM_000217.3(KCNA1):c.475T>C (p.Tyr159His) rs764645312 0.00001
NM_000217.3(KCNA1):c.933C>A (p.Gly311=) rs138351123 0.00001
GRCh37/hg19 12p13.32(chr12:5020545-5022032)x1
NM_000217.3(KCNA1):c.*1242T>G
NM_000217.3(KCNA1):c.*2333G>A rs2109420
NM_000217.3(KCNA1):c.1054G>C (p.Ala352Pro) rs1057519226
NM_000217.3(KCNA1):c.1126G>C (p.Gly376Arg) rs1555085786
NM_000217.3(KCNA1):c.1202C>T (p.Ala401Val) rs797044929
NM_000217.3(KCNA1):c.1210G>A (p.Val404Ile) rs104894355
NM_000217.3(KCNA1):c.1214C>T (p.Pro405Leu) rs1555085798
NM_000217.3(KCNA1):c.1222G>A (p.Val408Met) rs113994117
NM_000217.3(KCNA1):c.1288G>C (p.Val430Leu) rs749598869
NM_000217.3(KCNA1):c.1314C>T (p.Asp438=) rs1591627982
NM_000217.3(KCNA1):c.1333A>G (p.Ser445Gly) rs768749436
NM_000217.3(KCNA1):c.1347G>A (p.Met449Ile)
NM_000217.3(KCNA1):c.135G>C (p.Gly45=) rs937284012
NM_000217.3(KCNA1):c.1365G>T (p.Met455Ile) rs2137674183
NM_000217.3(KCNA1):c.1366G>C (p.Glu456Gln)
NM_000217.3(KCNA1):c.1371C>T (p.Ile457=)
NM_000217.3(KCNA1):c.137T>C (p.Leu46Pro) rs2137672826
NM_000217.3(KCNA1):c.1428C>G (p.Ala476=) rs1591628034
NM_000217.3(KCNA1):c.144C>T (p.Phe48=) rs886042316
NM_000217.3(KCNA1):c.1466G>A (p.Ser489Asn) rs1131691765
NM_000217.3(KCNA1):c.1479C>A (p.Thr493=) rs765530769
NM_000217.3(KCNA1):c.191G>A (p.Gly64Asp) rs2137672866
NM_000217.3(KCNA1):c.216C>T (p.Tyr72=)
NM_000217.3(KCNA1):c.357T>C (p.Phe119=)
NM_000217.3(KCNA1):c.415G>A (p.Glu139Lys) rs1565433107
NM_000217.3(KCNA1):c.434C>T (p.Pro145Leu)
NM_000217.3(KCNA1):c.451C>T (p.Arg151Cys) rs1947353744
NM_000217.3(KCNA1):c.487T>C (p.Ser163Pro)
NM_000217.3(KCNA1):c.508G>A (p.Ala170Thr) rs1947354204
NM_000217.3(KCNA1):c.515T>C (p.Val172Ala)
NM_000217.3(KCNA1):c.553T>C (p.Cys185Arg)
NM_000217.3(KCNA1):c.582T>C (p.Asp194=)
NM_000217.3(KCNA1):c.676A>G (p.Thr226Ala) rs104894354
NM_000217.3(KCNA1):c.677C>G (p.Thr226Arg) rs28933383
NM_000217.3(KCNA1):c.702C>A (p.Phe234Leu) rs755621934
NM_000217.3(KCNA1):c.724G>C (p.Ala242Pro) rs28933381
NM_000217.3(KCNA1):c.781G>A (p.Ala261Thr)
NM_000217.3(KCNA1):c.785T>C (p.Ile262Thr) rs2137673584
NM_000217.3(KCNA1):c.803C>A (p.Thr268Lys) rs1565433356
NM_000217.3(KCNA1):c.837C>A (p.Asn279Lys) rs1591627786
NM_000217.3(KCNA1):c.856A>G (p.Thr286Ala)
NM_000217.3(KCNA1):c.872T>A (p.Leu291His) rs1064796844
NM_000217.3(KCNA1):c.884G>A (p.Arg295His) rs778463081
NM_000217.3(KCNA1):c.887T>C (p.Leu296Ser)
NM_000217.3(KCNA1):c.893G>C (p.Arg298Thr) rs2137673691
NM_000217.3(KCNA1):c.894G>C (p.Arg298Ser)
NM_000217.3(KCNA1):c.913C>T (p.Leu305Phe) rs1555085761
NM_000217.3(KCNA1):c.920G>A (p.Arg307His)
NM_000217.3(KCNA1):c.941T>C (p.Ile314Thr) rs1085308020
NM_000217.3(KCNA1):c.94G>C (p.Asp32His) rs1947351128
NM_000217.3(KCNA1):c.94G>T (p.Asp32Tyr) rs1947351128
NM_000217.3(KCNA1):c.976C>G (p.Leu326Val)
NM_000217.3(KCNA1):c.988A>T (p.Ile330Phe)

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