ClinVar Miner

List of variants studied for Epilepsy, familial adult myoclonic, 5 by Centogene AG - the Rare Disease Company

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.1241-1G>C rs1553345874 0.00001
NM_005076.5(CNTN2):c.2193G>C (p.Trp731Cys) rs1553347743

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