List of variants reported as pathogenic for cortical dysplasia-focal epilepsy syndrome by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_014141.6(CNTNAP2):c.3046C>T (p.Arg1016Ter)	rs371642222	0.00001
NC_000007.13:g.144520633_145949971del
NG_007092.2:g.1180537_1293253del
NM_014141.5(CNTNAP2):c.(?_550)+15275_(1349_?)-61303del
NM_014141.5(CNTNAP2):c.(?_97)+117643_(1670_?)+6605del
NM_014141.6(CNTNAP2):c.1480G>T (p.Glu494Ter)	rs149032771
NM_014141.6(CNTNAP2):c.1671-1G>T	rs730880276
NM_014141.6(CNTNAP2):c.2046C>A (p.Cys682Ter)	rs201076428
NM_014141.6(CNTNAP2):c.2964del (p.Cys989fs)	rs1554400338
NM_014141.6(CNTNAP2):c.3709del (p.Asp1237fs)	rs730880275

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