ClinVar Miner

List of variants in gene KCNA1 reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Gene type:
ClinVar version:
Total variants: 4
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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

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