ClinVar Miner

List of variants reported as pathogenic for Epilepsy syndrome

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 1p34.2(chr1:42278946-43598390)
GRCh38/hg38 22q12.2-12.3(chr22:31684443-31987722)
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)	rs397515407

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