ClinVar Miner

List of variants studied for cortical dysplasia-focal epilepsy syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 248
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.*4797G>C rs2717829 0.82590
NM_014141.6(CNTNAP2):c.*279C>A rs987456 0.71838
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691 0.57506
NM_014141.5(CNTNAP2):c.-115G>A rs2462603 0.49254
NM_014141.6(CNTNAP2):c.*2157A>G rs1062072 0.48864
NM_014141.6(CNTNAP2):c.*3742A>G rs2530311 0.47166
NM_014141.6(CNTNAP2):c.551-11_551-10insG rs35167289 0.42413
NM_014141.6(CNTNAP2):c.*1557A>C rs3194 0.35771
NM_014141.6(CNTNAP2):c.*4934C>T rs2530310 0.34059
NM_014141.6(CNTNAP2):c.*1187G>A rs2530312 0.33729
NM_014141.6(CNTNAP2):c.*2921C>T rs10243309 0.22898
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503 0.22240
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127 0.20355
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031 0.18203
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169 0.17471
NM_014141.6(CNTNAP2):c.*4738C>G rs10251347 0.15342
NM_014141.6(CNTNAP2):c.*4839G>A rs10280038 0.11146
NM_014141.6(CNTNAP2):c.*3144A>G rs17170999 0.11137
NM_014141.6(CNTNAP2):c.*3928C>T rs73473919 0.11111
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482 0.10641
NM_014141.6(CNTNAP2):c.*1059A>T rs1062071 0.09994
NM_014141.6(CNTNAP2):c.2099-15T>C rs75858942 0.04429
NM_014141.6(CNTNAP2):c.*3531G>A rs79360609 0.04371
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128 0.03626
NM_014141.6(CNTNAP2):c.*3392C>T rs115420302 0.02775
NM_014141.6(CNTNAP2):c.*3540G>A rs114585910 0.02773
NM_014141.6(CNTNAP2):c.*2151A>G rs28369221 0.02742
NM_014141.6(CNTNAP2):c.3476-15C>A rs77706740 0.02606
NM_014141.6(CNTNAP2):c.*2875dup rs138367128 0.02522
NM_014141.6(CNTNAP2):c.*1017T>G rs77001133 0.02487
NM_014141.6(CNTNAP2):c.*4000G>A rs187805981 0.02402
NM_014141.6(CNTNAP2):c.*5022C>T rs17171006 0.02086
NM_014141.6(CNTNAP2):c.*4276C>T rs17171000 0.02080
NM_014141.6(CNTNAP2):c.3797-6C>T rs79777576 0.01899
NM_014141.6(CNTNAP2):c.*3921G>A rs141005348 0.01856
NM_014141.6(CNTNAP2):c.*2665C>T rs7791181 0.01854
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853 0.01773
NM_014141.6(CNTNAP2):c.*48G>A rs78018010 0.01715
NM_014141.6(CNTNAP2):c.*678G>C rs2717809 0.01414
NM_014141.6(CNTNAP2):c.*1433A>G rs78484397 0.01362
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=) rs61732849 0.01075
NM_014141.6(CNTNAP2):c.834T>C (p.Ser278=) rs61732854 0.00910
NM_014141.6(CNTNAP2):c.*3328G>A rs77103373 0.00878
NM_014141.6(CNTNAP2):c.*4195T>C rs76977336 0.00788
NM_014141.6(CNTNAP2):c.*2670T>G rs116187496 0.00661
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292 0.00609
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val) rs34456867 0.00548
NM_014141.6(CNTNAP2):c.*4089A>G rs113618136 0.00494
NM_014141.6(CNTNAP2):c.1137C>T (p.Asn379=) rs78543192 0.00454
NM_014141.6(CNTNAP2):c.3382-7C>T rs189589051 0.00454
NM_014141.6(CNTNAP2):c.3675G>A (p.Ser1225=) rs142331907 0.00417
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383 0.00405
NM_014141.6(CNTNAP2):c.*2013A>G rs73155921 0.00370
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283 0.00340
NM_014141.6(CNTNAP2):c.*4071G>A rs147886818 0.00288
NM_014141.6(CNTNAP2):c.*3433G>A rs142623983 0.00279
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845 0.00269
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670 0.00264
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693 0.00253
NM_014141.6(CNTNAP2):c.*3976C>T rs565269632 0.00241
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073 0.00236
NM_014141.6(CNTNAP2):c.*2657G>C rs563912199 0.00207
NM_014141.6(CNTNAP2):c.*4217A>C rs77203962 0.00141
NM_014141.6(CNTNAP2):c.*5148G>A rs143358477 0.00134
NM_014141.6(CNTNAP2):c.*3127A>G rs529027274 0.00130
NM_014141.6(CNTNAP2):c.-49T>G rs549396215 0.00123
NM_014141.6(CNTNAP2):c.*166A>C rs534520270 0.00107
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_014141.6(CNTNAP2):c.*1858G>A rs544588829 0.00098
NM_014141.6(CNTNAP2):c.*923del rs753739211 0.00085
NM_014141.6(CNTNAP2):c.*3014G>A rs556229840 0.00075
NM_014141.6(CNTNAP2):c.*828T>C rs137995700 0.00072
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385 0.00072
NM_014141.6(CNTNAP2):c.*1762T>C rs78058659 0.00070
NM_014141.6(CNTNAP2):c.*925T>G rs886062058 0.00070
NM_014141.6(CNTNAP2):c.*3616C>T rs534404412 0.00069
NM_014141.6(CNTNAP2):c.*861G>A rs550947008 0.00064
NM_014141.6(CNTNAP2):c.*4260C>T rs557641203 0.00059
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_014141.6(CNTNAP2):c.*3796C>T rs183556756 0.00053
NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln) rs758630057 0.00048
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His) rs138738227 0.00048
NM_014141.6(CNTNAP2):c.*3041C>A rs569956114 0.00046
NM_014141.6(CNTNAP2):c.*3227G>T rs568899606 0.00045
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=) rs143856702 0.00041
NM_014141.6(CNTNAP2):c.1777+13T>G rs188140291 0.00039
NM_014141.6(CNTNAP2):c.3247+15A>G rs201602527 0.00036
NM_014141.5(CNTNAP2):c.-439C>T rs560050853 0.00029
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654 0.00029
NM_014141.6(CNTNAP2):c.2895C>A (p.Gly965=) rs75688908 0.00028
NM_014141.6(CNTNAP2):c.3174C>G (p.Thr1058=) rs143226012 0.00026
NM_014141.5(CNTNAP2):c.-329A>T rs187944069 0.00021
NM_014141.6(CNTNAP2):c.400T>G (p.Trp134Gly) rs139694086 0.00021
NM_014141.6(CNTNAP2):c.*3837G>A rs557154561 0.00019
NM_014141.6(CNTNAP2):c.1786G>A (p.Glu596Lys) rs141064983 0.00019
NM_014141.6(CNTNAP2):c.561T>C (p.Val187=) rs201200400 0.00019
NM_014141.6(CNTNAP2):c.837G>A (p.Val279=) rs143507886 0.00019
NM_014141.6(CNTNAP2):c.*1482A>T rs186254614 0.00018
NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr) rs121908445 0.00018
NM_014141.6(CNTNAP2):c.3968A>C (p.Asp1323Ala) rs142434274 0.00018
NM_014141.6(CNTNAP2):c.1480G>A (p.Glu494Lys) rs149032771 0.00017
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr) rs201326295 0.00017
NM_014141.6(CNTNAP2):c.*4801T>C rs769896194 0.00016
NM_014141.6(CNTNAP2):c.2242G>T (p.Asp748Tyr) rs371691712 0.00016
NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=) rs117876038 0.00016
NM_014141.6(CNTNAP2):c.*2630C>A rs148470839 0.00013
NM_014141.6(CNTNAP2):c.*3967G>A rs999471225 0.00013
NM_014141.6(CNTNAP2):c.1777+7G>A rs770951811 0.00013
NM_014141.6(CNTNAP2):c.209-11C>T rs369056998 0.00013
NM_014141.6(CNTNAP2):c.939+14C>T rs370916766 0.00013
NM_014141.6(CNTNAP2):c.*4123G>A rs192286379 0.00012
NM_014141.6(CNTNAP2):c.1943C>T (p.Thr648Met) rs534215627 0.00012
NM_014141.6(CNTNAP2):c.*5233C>T rs561403003 0.00010
NM_014141.6(CNTNAP2):c.2038G>A (p.Glu680Lys) rs368905425 0.00010
NM_014141.6(CNTNAP2):c.65T>C (p.Leu22Pro) rs768374052 0.00010
NM_014141.5(CNTNAP2):c.-135G>A rs886062046 0.00009
NM_014141.6(CNTNAP2):c.*1486T>C rs575958976 0.00009
NM_014141.6(CNTNAP2):c.3155G>A (p.Arg1052His) rs374739970 0.00009
NM_014141.6(CNTNAP2):c.939+8T>A rs199994339 0.00008
NM_014141.6(CNTNAP2):c.1504C>G (p.Leu502Val) rs368470905 0.00007
NM_014141.6(CNTNAP2):c.645C>T (p.Asn215=) rs776956365 0.00007
NM_014141.6(CNTNAP2):c.*2156C>T rs886062064 0.00006
NM_014141.6(CNTNAP2):c.*3836C>T rs543686108 0.00006
NM_014141.6(CNTNAP2):c.*634A>G rs562638833 0.00006
NM_014141.6(CNTNAP2):c.-18C>G rs879368718 0.00006
NM_014141.6(CNTNAP2):c.1033G>A (p.Val345Ile) rs145832489 0.00006
NM_014141.6(CNTNAP2):c.1898-9T>C rs372830287 0.00006
NM_014141.6(CNTNAP2):c.3112G>A (p.Asp1038Asn) rs144003410 0.00006
NM_014141.6(CNTNAP2):c.436G>A (p.Val146Ile) rs781338949 0.00006
NM_014141.6(CNTNAP2):c.*1657G>A rs573903898 0.00005
NM_014141.6(CNTNAP2):c.*3802G>A rs557610788 0.00005
NM_014141.6(CNTNAP2):c.*407C>A rs1427207833 0.00005
NM_014141.6(CNTNAP2):c.2554+14G>T rs546437079 0.00005
NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln) rs189731792 0.00005
NM_014141.5(CNTNAP2):c.-394C>T rs886062040 0.00004
NM_014141.6(CNTNAP2):c.*4080G>A rs60190529 0.00004
NM_014141.6(CNTNAP2):c.1623G>A (p.Pro541=) rs146873712 0.00004
NM_014141.6(CNTNAP2):c.355G>A (p.Asp119Asn) rs777035367 0.00004
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_014141.6(CNTNAP2):c.*1514A>G rs1444957856 0.00003
NM_014141.6(CNTNAP2):c.*2986T>G rs560312072 0.00003
NM_014141.6(CNTNAP2):c.*3913A>G rs886062074 0.00003
NM_014141.6(CNTNAP2):c.1105G>T (p.Val369Leu) rs368057493 0.00003
NM_014141.6(CNTNAP2):c.1257G>A (p.Leu419=) rs773218141 0.00003
NM_014141.6(CNTNAP2):c.2241G>A (p.Ala747=) rs758102050 0.00003
NM_014141.6(CNTNAP2):c.2460C>T (p.Ser820=) rs144496909 0.00003
NM_014141.6(CNTNAP2):c.3797-5G>A rs745770134 0.00003
NM_014141.6(CNTNAP2):c.3798C>T (p.Gly1266=) rs1483110052 0.00003
NM_014141.6(CNTNAP2):c.676C>A (p.Leu226Met) rs372345438 0.00003
NM_014141.6(CNTNAP2):c.901A>G (p.Thr301Ala) rs772320412 0.00003
NM_014141.5(CNTNAP2):c.-146G>A rs886062045 0.00002
NM_014141.5(CNTNAP2):c.-168C>G rs886062044 0.00002
NM_014141.6(CNTNAP2):c.*1659G>A rs964635788 0.00002
NM_014141.6(CNTNAP2):c.*176C>A rs200052441 0.00002
NM_014141.6(CNTNAP2):c.1248G>A (p.Ala416=) rs779901891 0.00002
NM_014141.6(CNTNAP2):c.2122G>T (p.Val708Phe) rs763122160 0.00002
NM_014141.6(CNTNAP2):c.2255+12C>T rs749270618 0.00002
NM_014141.6(CNTNAP2):c.2340A>G (p.Ser780=) rs778124698 0.00002
NM_014141.5(CNTNAP2):c.-218A>G rs886062043 0.00001
NM_014141.6(CNTNAP2):c.*1027C>G rs886062059 0.00001
NM_014141.6(CNTNAP2):c.*104T>C rs956843110 0.00001
NM_014141.6(CNTNAP2):c.*1067G>C rs1013090647 0.00001
NM_014141.6(CNTNAP2):c.*1136C>T rs1800002462 0.00001
NM_014141.6(CNTNAP2):c.*1249G>A rs886062061 0.00001
NM_014141.6(CNTNAP2):c.*2309G>T rs886062065 0.00001
NM_014141.6(CNTNAP2):c.*2699C>T rs886062067 0.00001
NM_014141.6(CNTNAP2):c.*2736A>C rs1351559100 0.00001
NM_014141.6(CNTNAP2):c.*2869G>A rs1271698111 0.00001
NM_014141.6(CNTNAP2):c.-32C>T rs587780903 0.00001
NM_014141.6(CNTNAP2):c.-36C>A rs762828266 0.00001
NM_014141.6(CNTNAP2):c.1099T>C (p.Ser367Pro) rs564865065 0.00001
NM_014141.6(CNTNAP2):c.1882T>C (p.Tyr628His) rs770030792 0.00001
NM_014141.6(CNTNAP2):c.2903C>T (p.Thr968Ile) rs1255422619 0.00001
NM_014141.6(CNTNAP2):c.3115C>G (p.Gln1039Glu) rs372351365 0.00001
NM_014141.6(CNTNAP2):c.3361G>A (p.Glu1121Lys) rs572154707 0.00001
NM_014141.6(CNTNAP2):c.3651G>A (p.Ser1217=) rs377455159 0.00001
NM_014141.6(CNTNAP2):c.37C>T (p.Leu13Phe) rs796052375 0.00001
NM_014141.6(CNTNAP2):c.489T>G (p.Pro163=) rs761820697 0.00001
NM_014141.6(CNTNAP2):c.592T>C (p.Tyr198His) rs764642738 0.00001
NM_014141.6(CNTNAP2):c.687A>G (p.Glu229=) rs767033703 0.00001
NM_014141.6(CNTNAP2):c.87C>T (p.Pro29=) rs886062049 0.00001
NM_014141.6(CNTNAP2):c.910G>C (p.Glu304Gln) rs886062051 0.00001
NM_014141.6(CNTNAP2):c.983G>A (p.Ser328Asn) rs758429654 0.00001
NM_014141.5(CNTNAP2):c.-145G>C rs769212821
NM_014141.5(CNTNAP2):c.-331delT rs886062041
NM_014141.5(CNTNAP2):c.-331dup rs886062041
NM_014141.5(CNTNAP2):c.-454G>T rs886062039
NM_014141.6(CNTNAP2):c.*1069C>A rs1799999630
NM_014141.6(CNTNAP2):c.*1174A>C rs1033815382
NM_014141.6(CNTNAP2):c.*1175TCTT[1] rs72035437
NM_014141.6(CNTNAP2):c.*1196A>T rs1800005089
NM_014141.6(CNTNAP2):c.*1276_*1280dup rs369615005
NM_014141.6(CNTNAP2):c.*1397_*1398dup rs886062062
NM_014141.6(CNTNAP2):c.*159G>A rs886062054
NM_014141.6(CNTNAP2):c.*1606del rs769986162
NM_014141.6(CNTNAP2):c.*1648A>C rs367944578
NM_014141.6(CNTNAP2):c.*174_*175dup rs61125105
NM_014141.6(CNTNAP2):c.*175dup rs61125105
NM_014141.6(CNTNAP2):c.*2251T>G rs927092071
NM_014141.6(CNTNAP2):c.*2260C>A rs186600344
NM_014141.6(CNTNAP2):c.*2315C>T rs886062066
NM_014141.6(CNTNAP2):c.*2551A>T rs779403898
NM_014141.6(CNTNAP2):c.*2777C>T rs886062068
NM_014141.6(CNTNAP2):c.*2903T>A rs886062070
NM_014141.6(CNTNAP2):c.*2935_*2936del rs544152145
NM_014141.6(CNTNAP2):c.*3067G>T rs1411091554
NM_014141.6(CNTNAP2):c.*3419del rs144252697
NM_014141.6(CNTNAP2):c.*3593C>A rs778480799
NM_014141.6(CNTNAP2):c.*3629T>C rs886062072
NM_014141.6(CNTNAP2):c.*3677G>A rs758113507
NM_014141.6(CNTNAP2):c.*3744C>A rs886062073
NM_014141.6(CNTNAP2):c.*3999del rs35835723
NM_014141.6(CNTNAP2):c.*3999dup rs35835723
NM_014141.6(CNTNAP2):c.*4087C>T rs932409468
NM_014141.6(CNTNAP2):c.*440C>T rs886062055
NM_014141.6(CNTNAP2):c.*4448G>T rs896341039
NM_014141.6(CNTNAP2):c.*4708A>T rs886062076
NM_014141.6(CNTNAP2):c.*4768G>A rs886062077
NM_014141.6(CNTNAP2):c.*5128C>T rs1423537879
NM_014141.6(CNTNAP2):c.*51G>C rs756436388
NM_014141.6(CNTNAP2):c.*5268G>T rs886062078
NM_014141.6(CNTNAP2):c.*5281G>A rs540704185
NM_014141.6(CNTNAP2):c.*5337del rs886062079
NM_014141.6(CNTNAP2):c.*600CTGA[3] rs3058181
NM_014141.6(CNTNAP2):c.*818dup rs145690138
NM_014141.6(CNTNAP2):c.*916TAGTT[1] rs569195865
NM_014141.6(CNTNAP2):c.-61G>A rs886062047
NM_014141.6(CNTNAP2):c.1348+13T>G rs200282837
NM_014141.6(CNTNAP2):c.1391T>A (p.Leu464Gln) rs1402650519
NM_014141.6(CNTNAP2):c.1709C>T (p.Ser570Leu) rs377627481
NM_014141.6(CNTNAP2):c.1733G>A (p.Cys578Tyr) rs886062052
NM_014141.6(CNTNAP2):c.1915A>G (p.Ile639Val) rs746458660
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.2368C>A (p.Arg790Ser) rs200089329
NM_014141.6(CNTNAP2):c.2422T>C (p.Ser808Pro) rs773802167
NM_014141.6(CNTNAP2):c.2570C>A (p.Ser857Tyr) rs200330677
NM_014141.6(CNTNAP2):c.286A>G (p.Ser96Gly) rs540745201
NM_014141.6(CNTNAP2):c.3063A>C (p.Ala1021=) rs767478890
NM_014141.6(CNTNAP2):c.3182C>T (p.Pro1061Leu) rs778596213
NM_014141.6(CNTNAP2):c.3385G>A (p.Asp1129Asn) rs781236853
NM_014141.6(CNTNAP2):c.3715+4A>C rs886062053
NM_014141.6(CNTNAP2):c.3781T>G (p.Ser1261Ala) rs754580386
NM_014141.6(CNTNAP2):c.550+10G>A rs776175685
NM_014141.6(CNTNAP2):c.59G>A (p.Ser20Asn) rs886062048
NM_014141.6(CNTNAP2):c.600C>T (p.Phe200=) rs752019151
NM_014141.6(CNTNAP2):c.637G>A (p.Ala213Thr) rs886062050
NM_014141.6(CNTNAP2):c.823C>T (p.His275Tyr) rs765851581
NM_014141.6(CNTNAP2):c.945C>G (p.Thr315=) rs794727872

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