ClinVar Miner

List of variants in gene KCNMA1 studied for Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16; Liang-Wang syndrome

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001161352.2(KCNMA1):c.1749+11G>A rs116546993 0.00682
NM_001161352.2(KCNMA1):c.2484+7G>A rs13377017 0.00176
NM_001161352.2(KCNMA1):c.1441-11C>T rs79390996 0.00028
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala) rs200420124 0.00006
NM_001161352.2(KCNMA1):c.2089C>T (p.Arg697Trp) rs202188493 0.00002
NM_001161352.2(KCNMA1):c.2660A>G (p.Lys887Arg) rs753684298 0.00001
NM_001161352.2(KCNMA1):c.2484+1746C>T
NM_001161352.2(KCNMA1):c.31AGC[3] (p.Ser12dup) rs757636988
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly) rs1555528807
NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg)
NM_001161352.2(KCNMA1):c.379-51304del rs2154521818

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