ClinVar Miner

List of variants reported as pathogenic for Cortical dysplasia-focal epilepsy syndrome by 3billion

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014141.6(CNTNAP2):c.1361_1362del (p.Asn454fs)	rs1794916576
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter)	rs766777011
NM_014141.6(CNTNAP2):c.551G>A (p.Trp184Ter)	rs2129279519

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