ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.1241-1G>C rs1553345874 0.00001
NM_005076.5(CNTN2):c.2432-2A>G rs1196223064 0.00001
NM_005076.5(CNTN2):c.1240+1G>A rs113709347
NM_005076.5(CNTN2):c.1695+2T>C rs763392794
NM_005076.5(CNTN2):c.2126-1G>C rs2151198133
NM_005076.5(CNTN2):c.2731+1G>A rs1202358073

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