ClinVar Miner

List of variants studied for Epilepsy, familial adult myoclonic, 5 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005076.5(CNTN2):c.1699G>T (p.Glu567Ter)	rs867618155
NM_005076.5(CNTN2):c.2874_2875del (p.Pro959fs)
NM_005076.5(CNTN2):c.504del (p.Trp168fs)	rs398122387

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