ClinVar Miner

List of variants in gene KCNMA1 reported as uncertain significance for Epilepsy, idiopathic generalized, susceptibility to, 16

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001161352.2(KCNMA1):c.2165C>T (p.Ser722Leu) rs373620901 0.00009
NM_001161352.2(KCNMA1):c.1127G>A (p.Gly376Glu) rs2097289257
NM_001161352.2(KCNMA1):c.1546C>G (p.His516Asp)
NM_001161352.2(KCNMA1):c.378+5538T>G rs2154571203

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