ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.2922T>G (p.Pro974=) rs116036521 0.01076
NM_005076.5(CNTN2):c.2845-12T>C rs74139115 0.00275
NM_005076.5(CNTN2):c.2964G>A (p.Gly988=) rs566959580 0.00002
NM_005076.5(CNTN2):c.2886C>T (p.His962=) rs56111335

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