ClinVar Miner

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

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.3716-2A>G rs746894028 0.00006
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs) rs1391540245 0.00001
NC_000007.13:g.(146536997_146740998)_(146829602_146997232)del
NC_000007.13:g.(147600814_147674953)_(147675082_147815209)del
NC_000007.13:g.(?_146471343)_(146537016_?)dup
NC_000007.13:g.(?_146536783)_(146537016_?)dup
NC_000007.13:g.(?_146740979)_(146741166_?)dup
NC_000007.13:g.(?_146740979)_(146829621_?)dup
NC_000007.13:g.(?_146740989)_(146997392_?)dup
NC_000007.13:g.(?_147183007)_(147259369_?)dup
NC_000007.13:g.(?_147183017)_(147183143_?)dup
NC_000007.13:g.(?_147600637)_(147600833_?)dup
NC_000007.13:g.(?_147964105)_(147964238_?)dup
NC_000007.14:g.(?_146774251)_(146774401_?)del
NC_000007.14:g.(?_147977842)_(147978009_?)dup
NM_014141.6(CNTNAP2):c.1084-2A>C
NM_014141.6(CNTNAP2):c.1348+1G>A
NM_014141.6(CNTNAP2):c.1349-1G>A
NM_014141.6(CNTNAP2):c.1361_1362del (p.Asn454fs) rs1794916576
NM_014141.6(CNTNAP2):c.1723del (p.Ser575fs) rs2116638179
NM_014141.6(CNTNAP2):c.1777+2T>C
NM_014141.6(CNTNAP2):c.1785C>G (p.Tyr595Ter) rs781574808
NM_014141.6(CNTNAP2):c.208+1G>A
NM_014141.6(CNTNAP2):c.3011-2A>C
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter) rs766777011
NM_014141.6(CNTNAP2):c.3345_3381+346del
NM_014141.6(CNTNAP2):c.3382-2A>C rs1085307838
NM_014141.6(CNTNAP2):c.3407_3411del (p.Tyr1136fs)
NM_014141.6(CNTNAP2):c.3922_3970dup (p.Glu1324delinsGlyArgArgHisHisGluGlnArgProGlnLeuHisArgAspHisTer) rs757043221
NM_014141.6(CNTNAP2):c.402+1G>C rs767408882
NM_014141.6(CNTNAP2):c.498G>A (p.Trp166Ter) rs1176180722
NM_014141.6(CNTNAP2):c.5_8dup (p.Ala4fs) rs1797490749
NM_014141.6(CNTNAP2):c.682G>A (p.Gly228Arg) rs371512835
NM_014141.6(CNTNAP2):c.97+1G>A rs972116002
NM_014141.6(CNTNAP2):c.98-1G>A rs2129185949

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