ClinVar Miner

List of variants reported as likely pathogenic for Seizure; Focal-onset seizure; Irregular menstruation; Confusion; Palpitations; Periventricular heterotopia; Abnormal emotional state by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)	rs61738009	0.00239
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)	rs35993949	0.00121

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