ClinVar Miner

List of variants in gene combination CNTN2, LOC126805985 reported as pathogenic for Epilepsy, familial adult myoclonic, 5

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.2740C>T (p.Arg914Ter) rs768608238
NM_005076.5(CNTN2):c.2773del (p.Ser925fs) rs2151200415
NM_005076.5(CNTN2):c.2874_2875del (p.Pro959fs)

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