ClinVar Miner

List of variants studied for Cortical dysplasia-focal epilepsy syndrome by Mendelics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845 0.00269
NM_014141.6(CNTNAP2):c.2217_2227del (p.Pro739_Lys740insTer) rs1585020100
NM_014141.6(CNTNAP2):c.2773+76del rs5888307

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