ClinVar Miner

List of variants in gene CNTNAP2, LOC126860216 studied for Cortical dysplasia-focal epilepsy syndrome

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020 0.00330
NM_014141.6(CNTNAP2):c.2895C>A (p.Gly965=) rs75688908 0.00028
NM_014141.6(CNTNAP2):c.3010+5G>A rs373422045 0.00019
NM_014141.6(CNTNAP2):c.2837C>A (p.Thr946Lys) rs758287508 0.00004
NM_014141.6(CNTNAP2):c.2985A>G (p.Ala995=) rs768859093 0.00004
NM_014141.6(CNTNAP2):c.3010+6G>A rs376708056 0.00004
NM_014141.6(CNTNAP2):c.2855G>A (p.Arg952Lys) rs777688879 0.00003
NM_014141.6(CNTNAP2):c.2891C>T (p.Ser964Leu) rs768784351 0.00003
NM_014141.6(CNTNAP2):c.2928T>C (p.Asn976=) rs765953292 0.00003
NM_014141.6(CNTNAP2):c.3010+3A>G rs370484431 0.00003
NM_014141.6(CNTNAP2):c.2883C>T (p.Ser961=) rs549742316 0.00002
NM_014141.6(CNTNAP2):c.3005A>T (p.Asn1002Ile) rs1227937536 0.00002
NM_014141.6(CNTNAP2):c.3010+12C>T rs371009902 0.00002
NM_014141.6(CNTNAP2):c.2793G>C (p.Gln931His) rs768170033 0.00001
NM_014141.6(CNTNAP2):c.2796C>T (p.Gly932=) rs1444710605 0.00001
NM_014141.6(CNTNAP2):c.2813G>A (p.Arg938His) rs1048353998 0.00001
NM_014141.6(CNTNAP2):c.2903C>T (p.Thr968Ile) rs1255422619 0.00001
NM_014141.6(CNTNAP2):c.2940C>T (p.Cys980=) rs776617883 0.00001
NM_014141.6(CNTNAP2):c.2956G>A (p.Gly986Ser) rs751542883 0.00001
NM_014141.6(CNTNAP2):c.2968G>A (p.Asp990Asn) rs1060503572 0.00001
NM_014141.6(CNTNAP2):c.2976T>C (p.Ser992=) rs1240944880 0.00001
NM_014141.6(CNTNAP2):c.3006C>T (p.Asn1002=) rs1253319324 0.00001
NM_014141.6(CNTNAP2):c.3010G>A (p.Asp1004Asn) rs748508785 0.00001
NM_014141.6(CNTNAP2):c.2774-11G>A
NM_014141.6(CNTNAP2):c.2774-18G>A
NM_014141.6(CNTNAP2):c.2780C>A (p.Ala927Asp) rs2116690838
NM_014141.6(CNTNAP2):c.2781T>C (p.Ala927=) rs763225944
NM_014141.6(CNTNAP2):c.2785G>A (p.Gly929Ser)
NM_014141.6(CNTNAP2):c.2794G>A (p.Gly932Ser)
NM_014141.6(CNTNAP2):c.2797T>G (p.Phe933Val)
NM_014141.6(CNTNAP2):c.2799C>T (p.Phe933=) rs2116690890
NM_014141.6(CNTNAP2):c.2823G>A (p.Arg941=) rs1805807399
NM_014141.6(CNTNAP2):c.2829T>C (p.Asn943=)
NM_014141.6(CNTNAP2):c.2833G>A (p.Val945Met) rs1805807689
NM_014141.6(CNTNAP2):c.2844C>A (p.Asp948Glu)
NM_014141.6(CNTNAP2):c.2849A>G (p.Glu950Gly)
NM_014141.6(CNTNAP2):c.2862G>A (p.Lys954=)
NM_014141.6(CNTNAP2):c.2884G>T (p.Gly962Ter) rs749575477
NM_014141.6(CNTNAP2):c.2886A>G (p.Gly962=) rs1328932233
NM_014141.6(CNTNAP2):c.2886A>T (p.Gly962=) rs1328932233
NM_014141.6(CNTNAP2):c.2900G>T (p.Cys967Phe)
NM_014141.6(CNTNAP2):c.2901C>T (p.Cys967=)
NM_014141.6(CNTNAP2):c.2910T>A (p.Tyr970Ter) rs2116691068
NM_014141.6(CNTNAP2):c.2913A>G (p.Gly971=)
NM_014141.6(CNTNAP2):c.2921G>A (p.Cys974Tyr) rs1805809677
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.2942T>C (p.Leu981Pro) rs1187753598
NM_014141.6(CNTNAP2):c.2943A>G (p.Leu981=)
NM_014141.6(CNTNAP2):c.2945A>G (p.Glu982Gly) rs752419100
NM_014141.6(CNTNAP2):c.2946G>C (p.Glu982Asp) rs1416168750
NM_014141.6(CNTNAP2):c.2947A>C (p.Arg983=) rs1585166289
NM_014141.6(CNTNAP2):c.2952C>T (p.Tyr984=) rs1585166298
NM_014141.6(CNTNAP2):c.2955C>A (p.His985Gln) rs138257598
NM_014141.6(CNTNAP2):c.2955C>T (p.His985=)
NM_014141.6(CNTNAP2):c.2964del (p.Cys989fs) rs1554400338
NM_014141.6(CNTNAP2):c.2967C>T (p.Cys989=)
NM_014141.6(CNTNAP2):c.2973C>T (p.Cys991=)
NM_014141.6(CNTNAP2):c.2994A>G (p.Gly998=)
NM_014141.6(CNTNAP2):c.3010+11A>T

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