ClinVar Miner

List of variants in gene KCNA1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 31
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HGVS dbSNP gnomAD frequency
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.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.*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.53A>C (p.His18Pro) rs367921276 0.00003
NM_000217.3(KCNA1):c.*5191G>A rs575078827 0.00002
NM_000217.3(KCNA1):c.1015C>T (p.Leu339=) rs372832102 0.00001
NM_000217.3(KCNA1):c.208A>G (p.Met70Val) rs1220977526 0.00001
GRCh37/hg19 12p13.32(chr12:5020545-5022032)x1
NM_000217.3(KCNA1):c.*1242T>G
NM_000217.3(KCNA1):c.1054G>C (p.Ala352Pro) rs1057519226
NM_000217.3(KCNA1):c.135G>C (p.Gly45=) rs937284012
NM_000217.3(KCNA1):c.191G>A (p.Gly64Asp) rs2137672866
NM_000217.3(KCNA1):c.216C>T (p.Tyr72=)
NM_000217.3(KCNA1):c.415G>A (p.Glu139Lys) rs1565433107
NM_000217.3(KCNA1):c.487T>C (p.Ser163Pro)
NM_000217.3(KCNA1):c.508G>A (p.Ala170Thr) rs1947354204
NM_000217.3(KCNA1):c.582T>C (p.Asp194=)
NM_000217.3(KCNA1):c.676A>G (p.Thr226Ala) rs104894354
NM_000217.3(KCNA1):c.781G>A (p.Ala261Thr)
NM_000217.3(KCNA1):c.856A>G (p.Thr286Ala)
NM_000217.3(KCNA1):c.893G>C (p.Arg298Thr) rs2137673691
NM_000217.3(KCNA1):c.920G>A (p.Arg307His)

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