ClinVar Miner

List of variants reported as pathogenic for Epilepsy, familial adult myoclonic, 5

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.940C>T (p.Arg314Ter) rs1422381117 0.00001
NC_000001.10:g.(?_205022314)_(205042893_?)del
NM_005076.5(CNTN2):c.1180C>T (p.Gln394Ter) rs2151192841
NM_005076.5(CNTN2):c.124C>T (p.Gln42Ter)
NM_005076.5(CNTN2):c.1327dup (p.Arg443fs)
NM_005076.5(CNTN2):c.1516C>T (p.Arg506Ter) rs114903768
NM_005076.5(CNTN2):c.159_160delinsTT (p.Glu54Ter)
NM_005076.5(CNTN2):c.1699G>T (p.Glu567Ter) rs867618155
NM_005076.5(CNTN2):c.2067_2068del (p.Ile690fs)
NM_005076.5(CNTN2):c.2081_2099del (p.Gly694fs)
NM_005076.5(CNTN2):c.2193G>A (p.Trp731Ter)
NM_005076.5(CNTN2):c.2587C>T (p.Arg863Ter) rs531184069
NM_005076.5(CNTN2):c.2697dup (p.Ser900fs) rs2151200083
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)
NM_005076.5(CNTN2):c.418C>T (p.Arg140Ter)
NM_005076.5(CNTN2):c.504del (p.Trp168fs) rs398122387
NM_005076.5(CNTN2):c.586C>T (p.Arg196Ter) rs537026414
NM_005076.5(CNTN2):c.766C>T (p.Gln256Ter)
NM_005076.5(CNTN2):c.851G>A (p.Trp284Ter)

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