List of variants in gene combination CNTNAP2, LOC126860216 reported as pathogenic for Cortical dysplasia-focal epilepsy syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_014141.6(CNTNAP2):c.2884G>T (p.Gly962Ter)	rs749575477
NM_014141.6(CNTNAP2):c.2910T>A (p.Tyr970Ter)	rs2116691068
NM_014141.6(CNTNAP2):c.2922_2923del (p.Cys974_Glu975delinsTer)	rs1805809633
NM_014141.6(CNTNAP2):c.2929G>T (p.Gly977Ter)
NM_014141.6(CNTNAP2):c.2964del (p.Cys989fs)	rs1554400338

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