ClinVar Miner

List of variants in gene KCNMA1 reported as uncertain significance for Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001161352.2(KCNMA1):c.2660A>G (p.Lys887Arg)	rs753684298	0.00001
NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser)	rs142858967

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