ClinVar Miner

List of variants in gene CPA6 reported as pathogenic for childhood epilepsy with centrotemporal spikes

Included ClinVar conditions (3):

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)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)	rs35993949	0.00121
NM_020361.5(CPA6):c.557A>G (p.Lys186Arg)	rs199576384	0.00008

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