ClinVar Miner

List of variants reported as pathogenic for Epilepsy, familial adult myoclonic, 5 by Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.1699G>T (p.Glu567Ter) rs867618155

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