ClinVar Miner

List of variants in gene KCNA1 reported as uncertain significance for Myokymia

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000217.3(KCNA1):c.*1012A>T rs886049519 0.00040
NM_000217.3(KCNA1):c.*592C>A rs144000949 0.00020
NM_000217.3(KCNA1):c.*883T>G rs756451969 0.00010
NM_000217.3(KCNA1):c.*88G>A rs886049513 0.00010
NM_000217.3(KCNA1):c.*3503C>T rs532649581 0.00006
NM_000217.3(KCNA1):c.*5274A>G rs886049541 0.00004
NM_000217.3(KCNA1):c.*2651C>T rs886049524 0.00003
NM_000217.3(KCNA1):c.*3185del rs886049526 0.00003
NM_000217.3(KCNA1):c.*3200A>G rs886049527 0.00003
NM_000217.3(KCNA1):c.*3268C>T rs886049528 0.00002
NM_000217.3(KCNA1):c.*4926G>A rs886049537 0.00002
NM_000217.3(KCNA1):c.-636G>C rs886049503 0.00002
NM_000217.3(KCNA1):c.*4289T>A rs886049534 0.00001
NM_000217.3(KCNA1):c.*1444CAAA[4] rs138257860
NM_000217.3(KCNA1):c.*2278dup rs397724146
NM_000217.3(KCNA1):c.*2286A>C rs759796830
NM_000217.3(KCNA1):c.*3176A>T rs181233186
NM_000217.3(KCNA1):c.*3316T>C rs886049529
NM_000217.3(KCNA1):c.*4718C>T rs886049536
NM_000217.3(KCNA1):c.*5106C>G rs886049538
NM_000217.3(KCNA1):c.*5139dup rs753752185
NM_000217.3(KCNA1):c.*5279C>T rs886049542
NM_000217.3(KCNA1):c.-1040G>T rs886049498
NM_000217.3(KCNA1):c.-230C>G rs886049507
NM_000217.3(KCNA1):c.-300ACA[3] rs886049506
NM_000217.3(KCNA1):c.-482G>C rs886049505
NM_000217.3(KCNA1):c.1364T>A (p.Met455Lys) rs886049512
NM_000217.3(KCNA1):c.317T>C (p.Val106Ala) rs886049510
NM_000217.3(KCNA1):c.412A>C (p.Lys138Gln) rs886049511

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