ClinVar Miner

List of variants in gene KCNA1 reported by GeneDx

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Gene type:
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Total variants: 45
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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.1296C>G (p.Ser432=) rs76066681 0.00299
NM_000217.3(KCNA1):c.208A>G (p.Met70Val) rs1220977526 0.00001
NM_000217.3(KCNA1):c.*2333G>A rs2109420
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.1288G>C (p.Val430Leu) rs749598869
NM_000217.3(KCNA1):c.1347G>A (p.Met449Ile)
NM_000217.3(KCNA1):c.1365G>T (p.Met455Ile) rs2137674183
NM_000217.3(KCNA1):c.1366G>C (p.Glu456Gln)
NM_000217.3(KCNA1):c.137T>C (p.Leu46Pro) rs2137672826
NM_000217.3(KCNA1):c.1466G>A (p.Ser489Asn) rs1131691765
NM_000217.3(KCNA1):c.434C>T (p.Pro145Leu)
NM_000217.3(KCNA1):c.451C>T (p.Arg151Cys) rs1947353744
NM_000217.3(KCNA1):c.515T>C (p.Val172Ala)
NM_000217.3(KCNA1):c.553T>C (p.Cys185Arg)
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.872T>A (p.Leu291His) rs1064796844
NM_000217.3(KCNA1):c.887T>C (p.Leu296Ser)
NM_000217.3(KCNA1):c.894G>C (p.Arg298Ser)
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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