ClinVar Miner

List of variants in gene KCNA1 reported by Eurofins NTD LLC (GA)

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Total variants: 9
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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.*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.1222G>A (p.Val408Met) rs113994117
NM_000217.3(KCNA1):c.144C>T (p.Phe48=) rs886042316
NM_000217.3(KCNA1):c.1479C>A (p.Thr493=) rs765530769

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