ClinVar Miner

List of variants in gene CNTNAP2 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 184
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.*4000G>A rs187805981 0.02402
NM_014141.6(CNTNAP2):c.*4276C>T rs17171000 0.02080
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.*4089A>G rs113618136 0.00494
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.*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.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.*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_014141.5(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.*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.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.*1196A>T rs1800005089
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.*2251T>G rs927092071
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.*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.*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.-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.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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