List of variants in gene KCNMA1 reported as uncertain significance 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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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
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.379-51304del	rs2154521818

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