ClinVar Miner

List of variants in gene KCNA1 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 31
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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.684T>C (p.Cys228=) rs1048500 0.46819
NM_000217.3(KCNA1):c.*9G>A rs4766310 0.45248
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.1327C>G (p.Arg443Gly) rs150849316 0.00078
NM_000217.3(KCNA1):c.611G>A (p.Arg204His) rs2229000 0.00063
NM_000217.3(KCNA1):c.393G>A (p.Arg131=) rs142184899 0.00039
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.432G>C (p.Leu144=) rs368749626 0.00003
NM_000217.3(KCNA1):c.61G>A (p.Asp21Asn) rs747465523 0.00002
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.475T>C (p.Tyr159His) rs764645312 0.00001
NM_000217.3(KCNA1):c.933C>A (p.Gly311=) rs138351123 0.00001
NM_000217.3(KCNA1):c.1214C>T (p.Pro405Leu) rs1555085798
NM_000217.3(KCNA1):c.1371C>T (p.Ile457=)
NM_000217.3(KCNA1):c.357T>C (p.Phe119=)
NM_000217.3(KCNA1):c.496G>C (p.Ala166Pro) rs1179635654
NM_000217.3(KCNA1):c.705G>A (p.Glu235=) rs1555085734
NM_000217.3(KCNA1):c.785T>C (p.Ile262Thr) rs2137673584
NM_000217.3(KCNA1):c.837C>A (p.Asn279Lys) rs1591627786
NM_000217.3(KCNA1):c.884G>A (p.Arg295His) rs778463081
NM_000217.3(KCNA1):c.913C>T (p.Leu305Phe) rs1555085761
NM_000217.3(KCNA1):c.941T>C (p.Ile314Thr) rs1085308020

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