ClinVar Miner

List of variants in gene CNTNAP2 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 222
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691 0.57506
NM_014141.6(CNTNAP2):c.551-11_551-10insG rs35167289 0.42413
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503 0.22240
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.1710G>A (p.Ser570=) rs2286128 0.03626
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853 0.01773
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=) rs61732849 0.01075
NM_014141.6(CNTNAP2):c.1119G>A (p.Thr373=) rs73471053 0.00970
NM_014141.6(CNTNAP2):c.834T>C (p.Ser278=) rs61732854 0.00910
NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=) rs79039458 0.00749
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.1137C>T (p.Asn379=) rs78543192 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.1311C>T (p.Ile437=) rs56356283 0.00340
NM_014141.6(CNTNAP2):c.3585G>A (p.Arg1195=) rs77789547 0.00300
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.681C>T (p.His227=) rs142984073 0.00236
NM_014141.6(CNTNAP2):c.3305T>C (p.Val1102Ala) rs111599875 0.00235
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565 0.00151
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00096
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His) rs73464271 0.00086
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385 0.00072
NM_014141.6(CNTNAP2):c.2292C>T (p.His764=) rs143286960 0.00063
NM_014141.6(CNTNAP2):c.136G>A (p.Val46Met) rs137924687 0.00059
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_014141.6(CNTNAP2):c.2705C>T (p.Pro902Leu) rs202095023 0.00050
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His) rs138738227 0.00048
NM_014141.6(CNTNAP2):c.1858G>A (p.Gly620Arg) rs142980731 0.00041
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=) rs143856702 0.00041
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=) rs141439475 0.00035
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521 0.00033
NM_014141.6(CNTNAP2):c.633C>A (p.Val211=) rs140505542 0.00032
NM_014141.6(CNTNAP2):c.1032C>T (p.Gly344=) rs142122012 0.00030
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994 0.00030
NM_014141.6(CNTNAP2):c.1879G>A (p.Val627Ile) rs147447659 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_014141.6(CNTNAP2):c.400T>G (p.Trp134Gly) rs139694086 0.00021
NM_014141.6(CNTNAP2):c.1455T>C (p.Asn485=) rs370095062 0.00019
NM_014141.6(CNTNAP2):c.1786G>A (p.Glu596Lys) rs141064983 0.00019
NM_014141.6(CNTNAP2):c.2288A>G (p.Asp763Gly) rs201483304 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.2606T>C (p.Ile869Thr) rs121908445 0.00018
NM_014141.6(CNTNAP2):c.1480G>A (p.Glu494Lys) rs149032771 0.00017
NM_014141.6(CNTNAP2):c.1165C>T (p.Arg389Trp) rs375172684 0.00016
NM_014141.6(CNTNAP2):c.2242G>T (p.Asp748Tyr) rs371691712 0.00016
NM_014141.6(CNTNAP2):c.3154C>T (p.Arg1052Cys) rs139930720 0.00016
NM_014141.6(CNTNAP2):c.3903G>A (p.Ala1301=) rs146206159 0.00016
NM_014141.6(CNTNAP2):c.1943C>T (p.Thr648Met) rs534215627 0.00012
NM_014141.6(CNTNAP2):c.3920C>T (p.Ala1307Val) rs149487593 0.00011
NM_014141.6(CNTNAP2):c.632T>C (p.Val211Ala) rs367652115 0.00011
NM_014141.6(CNTNAP2):c.65T>C (p.Leu22Pro) rs768374052 0.00010
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_014141.6(CNTNAP2):c.2096C>A (p.Pro699Gln) rs764412489 0.00009
NM_014141.6(CNTNAP2):c.2716C>T (p.Arg906Cys) rs141617212 0.00009
NM_014141.6(CNTNAP2):c.3155G>A (p.Arg1052His) rs374739970 0.00009
NM_014141.6(CNTNAP2):c.653C>T (p.Thr218Met) rs771028883 0.00007
NM_014141.6(CNTNAP2):c.2368C>T (p.Arg790Cys) rs200089329 0.00006
NM_014141.6(CNTNAP2):c.3111C>T (p.Pro1037=) rs368108883 0.00006
NM_014141.6(CNTNAP2):c.3112G>A (p.Asp1038Asn) rs144003410 0.00006
NM_014141.6(CNTNAP2):c.3179C>T (p.Ala1060Val) rs369254596 0.00006
NM_014141.6(CNTNAP2):c.3355C>T (p.Arg1119Cys) rs367664952 0.00006
NM_014141.6(CNTNAP2):c.3576C>T (p.Ala1192=) rs764089965 0.00006
NM_014141.6(CNTNAP2):c.1634C>T (p.Ala545Val) rs771772546 0.00005
NM_014141.6(CNTNAP2):c.2186C>T (p.Ala729Val) rs758221358 0.00005
NM_014141.6(CNTNAP2):c.2239G>A (p.Ala747Thr) rs150530671 0.00005
NM_014141.6(CNTNAP2):c.238G>A (p.Asp80Asn) rs370057104 0.00005
NM_014141.6(CNTNAP2):c.3180G>A (p.Ala1060=) rs372645983 0.00005
NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln) rs189731792 0.00005
NM_014141.6(CNTNAP2):c.*4G>A rs374277682 0.00004
NM_014141.6(CNTNAP2):c.1062G>A (p.Lys354=) rs1034170979 0.00004
NM_014141.6(CNTNAP2):c.1161C>T (p.Pro387=) rs755129419 0.00004
NM_014141.6(CNTNAP2):c.1385G>A (p.Arg462His) rs774717843 0.00004
NM_014141.6(CNTNAP2):c.1635G>A (p.Ala545=) rs755959345 0.00004
NM_014141.6(CNTNAP2):c.275G>A (p.Arg92Gln) rs138924087 0.00004
NM_014141.6(CNTNAP2):c.355G>A (p.Asp119Asn) rs777035367 0.00004
NM_014141.6(CNTNAP2):c.3607G>A (p.Val1203Ile) rs745397865 0.00004
NM_014141.6(CNTNAP2):c.894C>T (p.His298=) rs200961501 0.00004
NM_014141.6(CNTNAP2):c.1039A>G (p.Ile347Val) rs768298723 0.00003
NM_014141.6(CNTNAP2):c.1078A>G (p.Asn360Asp) rs570190374 0.00003
NM_014141.6(CNTNAP2):c.1079A>G (p.Asn360Ser) rs794727873 0.00003
NM_014141.6(CNTNAP2):c.1105G>T (p.Val369Leu) rs368057493 0.00003
NM_014141.6(CNTNAP2):c.1377C>T (p.His459=) rs377678020 0.00003
NM_014141.6(CNTNAP2):c.1581C>T (p.Asp527=) rs774328147 0.00003
NM_014141.6(CNTNAP2):c.2460C>T (p.Ser820=) rs144496909 0.00003
NM_014141.6(CNTNAP2):c.3427G>A (p.Asp1143Asn) rs765950760 0.00003
NM_014141.6(CNTNAP2):c.3797-5G>A rs745770134 0.00003
NM_014141.6(CNTNAP2):c.485T>G (p.Val162Gly) rs587780320 0.00003
NM_014141.6(CNTNAP2):c.62G>A (p.Cys21Tyr) rs1341597305 0.00003
NM_014141.6(CNTNAP2):c.676C>A (p.Leu226Met) rs372345438 0.00003
NM_014141.6(CNTNAP2):c.1123C>T (p.Pro375Ser) rs757993314 0.00002
NM_014141.6(CNTNAP2):c.1479C>T (p.Gly493=) rs779384498 0.00002
NM_014141.6(CNTNAP2):c.1582G>A (p.Asp528Asn) rs761732433 0.00002
NM_014141.6(CNTNAP2):c.1999G>A (p.Ala667Thr) rs374920791 0.00002
NM_014141.6(CNTNAP2):c.2281T>C (p.Tyr761His) rs1085307540 0.00002
NM_014141.6(CNTNAP2):c.2340A>G (p.Ser780=) rs778124698 0.00002
NM_014141.6(CNTNAP2):c.2360G>C (p.Gly787Ala) rs929192800 0.00002
NM_014141.6(CNTNAP2):c.2391T>C (p.Tyr797=) rs562833882 0.00002
NM_014141.6(CNTNAP2):c.2699G>A (p.Arg900Gln) rs374321266 0.00002
NM_014141.6(CNTNAP2):c.3109C>T (p.Pro1037Ser) rs541853843 0.00002
NM_014141.6(CNTNAP2):c.3235G>A (p.Val1079Ile) rs529269450 0.00002
NM_014141.6(CNTNAP2):c.3517C>A (p.Pro1173Thr) rs772569737 0.00002
NM_014141.6(CNTNAP2):c.3990C>T (p.Leu1330=) rs1057522590 0.00002
NM_014141.6(CNTNAP2):c.855G>A (p.Gly285=) rs372386633 0.00002
NM_014141.6(CNTNAP2):c.862A>G (p.Ile288Val) rs757316182 0.00002
NM_014141.6(CNTNAP2):c.1028A>G (p.Asn343Ser) rs746335569 0.00001
NM_014141.6(CNTNAP2):c.1138G>A (p.Ala380Thr) rs751589771 0.00001
NM_014141.6(CNTNAP2):c.1320C>A (p.Thr440=) rs994508015 0.00001
NM_014141.6(CNTNAP2):c.1723A>T (p.Ser575Cys) rs794727033 0.00001
NM_014141.6(CNTNAP2):c.1766C>A (p.Thr589Asn) rs756006548 0.00001
NM_014141.6(CNTNAP2):c.1837T>C (p.Trp613Arg) rs1562998233 0.00001
NM_014141.6(CNTNAP2):c.2126G>A (p.Gly709Asp) rs774529648 0.00001
NM_014141.6(CNTNAP2):c.2197G>A (p.Glu733Lys) rs991842796 0.00001
NM_014141.6(CNTNAP2):c.2221T>C (p.Tyr741His) rs762079391 0.00001
NM_014141.6(CNTNAP2):c.2243A>G (p.Asp748Gly) rs964887613 0.00001
NM_014141.6(CNTNAP2):c.226C>T (p.Pro76Ser) rs149632465 0.00001
NM_014141.6(CNTNAP2):c.2364T>A (p.Pro788=) rs1801459664 0.00001
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs) rs1391540245 0.00001
NM_014141.6(CNTNAP2):c.2541G>A (p.Lys847=) rs746676806 0.00001
NM_014141.6(CNTNAP2):c.2689C>A (p.Gln897Lys) rs200300251 0.00001
NM_014141.6(CNTNAP2):c.293T>C (p.Ile98Thr) rs146331571 0.00001
NM_014141.6(CNTNAP2):c.3106G>A (p.Ala1036Thr) rs545175315 0.00001
NM_014141.6(CNTNAP2):c.3198C>T (p.Tyr1066=) rs772842467 0.00001
NM_014141.6(CNTNAP2):c.3284G>A (p.Arg1095Gln) rs535562015 0.00001
NM_014141.6(CNTNAP2):c.3361G>A (p.Glu1121Lys) rs572154707 0.00001
NM_014141.6(CNTNAP2):c.3379A>G (p.Lys1127Glu) rs1032665509 0.00001
NM_014141.6(CNTNAP2):c.343A>C (p.Met115Leu) rs758526505 0.00001
NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr) rs751491210 0.00001
NM_014141.6(CNTNAP2):c.37C>T (p.Leu13Phe) rs796052375 0.00001
NM_014141.6(CNTNAP2):c.3834C>T (p.Thr1278=) rs147111339 0.00001
NM_014141.6(CNTNAP2):c.3908C>T (p.Ser1303Leu) rs776205287 0.00001
NM_014141.6(CNTNAP2):c.3919G>A (p.Ala1307Thr) rs139234992 0.00001
NM_014141.6(CNTNAP2):c.700G>T (p.Asp234Tyr) rs867768148 0.00001
NM_014141.6(CNTNAP2):c.736G>A (p.Val246Ile) rs933650648 0.00001
NM_014141.6(CNTNAP2):c.766C>T (p.Leu256Phe) rs774670250 0.00001
NM_014141.6(CNTNAP2):c.935A>G (p.Tyr312Cys) rs1361533128 0.00001
NM_014141.6(CNTNAP2):c.1031G>A (p.Gly344Asp) rs1277235702
NM_014141.6(CNTNAP2):c.1040T>A (p.Ile347Asn)
NM_014141.6(CNTNAP2):c.1066T>A (p.Leu356Ile)
NM_014141.6(CNTNAP2):c.1096T>C (p.Phe366Leu)
NM_014141.6(CNTNAP2):c.1126G>A (p.Val376Ile) rs1801390957
NM_014141.6(CNTNAP2):c.1182G>C (p.Leu394=) rs773478974
NM_014141.6(CNTNAP2):c.1191C>T (p.Val397=) rs1490434881
NM_014141.6(CNTNAP2):c.1231G>A (p.Val411Ile)
NM_014141.6(CNTNAP2):c.1238G>A (p.Ser413Asn) rs796052371
NM_014141.6(CNTNAP2):c.1315_1316del (p.Gln439fs)
NM_014141.6(CNTNAP2):c.1353T>C (p.Ser451=) rs1794916255
NM_014141.6(CNTNAP2):c.1359G>C (p.Leu453Phe) rs781466709
NM_014141.6(CNTNAP2):c.137T>C (p.Val46Ala)
NM_014141.6(CNTNAP2):c.1403A>T (p.Asn468Ile)
NM_014141.6(CNTNAP2):c.1411A>G (p.Ile471Val) rs1286176571
NM_014141.6(CNTNAP2):c.1423G>A (p.Asp475Asn) rs1584856361
NM_014141.6(CNTNAP2):c.1458T>G (p.Ser486Arg)
NM_014141.6(CNTNAP2):c.1481A>T (p.Glu494Val)
NM_014141.6(CNTNAP2):c.1498+3A>C
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=) rs535454043
NM_014141.6(CNTNAP2):c.1687T>C (p.Cys563Arg) rs973983567
NM_014141.6(CNTNAP2):c.1689_1690del (p.Cys563_Glu564delinsTer) rs1554490549
NM_014141.6(CNTNAP2):c.1692G>A (p.Glu564=) rs1798502244
NM_014141.6(CNTNAP2):c.1709C>T (p.Ser570Leu) rs377627481
NM_014141.6(CNTNAP2):c.1814T>G (p.Leu605Arg) rs763561962
NM_014141.6(CNTNAP2):c.1823C>T (p.Thr608Ile)
NM_014141.6(CNTNAP2):c.2047G>A (p.Glu683Lys) rs372580822
NM_014141.6(CNTNAP2):c.2101G>T (p.Gly701Ter)
NM_014141.6(CNTNAP2):c.2136C>T (p.Asn712=) rs187552025
NM_014141.6(CNTNAP2):c.2336G>C (p.Gly779Ala) rs200413148
NM_014141.6(CNTNAP2):c.2356G>A (p.Val786Ile) rs138517537
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.2456C>A (p.Thr819Asn)
NM_014141.6(CNTNAP2):c.245A>T (p.Tyr82Phe) rs771335680
NM_014141.6(CNTNAP2):c.2492C>A (p.Thr831Asn) rs138344590
NM_014141.6(CNTNAP2):c.260T>C (p.Val87Ala)
NM_014141.6(CNTNAP2):c.2610A>G (p.Val870=) rs1563214691
NM_014141.6(CNTNAP2):c.2651G>T (p.Arg884Leu)
NM_014141.6(CNTNAP2):c.2736C>T (p.Gly912=)
NM_014141.6(CNTNAP2):c.2744G>T (p.Arg915Leu) rs369919189
NM_014141.6(CNTNAP2):c.3018T>C (p.Gly1006=) rs1562998457
NM_014141.6(CNTNAP2):c.3076G>A (p.Ala1026Thr) rs796052382
NM_014141.6(CNTNAP2):c.3086C>A (p.Ser1029Tyr)
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile) rs146225600
NM_014141.6(CNTNAP2):c.3193C>G (p.Leu1065Val)
NM_014141.6(CNTNAP2):c.3202A>G (p.Ser1068Gly)
NM_014141.6(CNTNAP2):c.3232C>T (p.Leu1078Phe)
NM_014141.6(CNTNAP2):c.325T>C (p.Trp109Arg)
NM_014141.6(CNTNAP2):c.3303C>A (p.Asp1101Glu)
NM_014141.6(CNTNAP2):c.3331C>T (p.Gln1111Ter) rs1159246607
NM_014141.6(CNTNAP2):c.3333G>A (p.Gln1111=)
NM_014141.6(CNTNAP2):c.3361G>C (p.Glu1121Gln) rs572154707
NM_014141.6(CNTNAP2):c.3408C>A (p.Tyr1136Ter) rs144003099
NM_014141.6(CNTNAP2):c.3549G>C (p.Gln1183His) rs1316112335
NM_014141.6(CNTNAP2):c.3556dup (p.Gln1186fs) rs772883080
NM_014141.6(CNTNAP2):c.3558G>C (p.Gln1186His) rs1563066657
NM_014141.6(CNTNAP2):c.357C>G (p.Asp119Glu)
NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser) rs727503878
NM_014141.6(CNTNAP2):c.3607G>C (p.Val1203Leu) rs745397865
NM_014141.6(CNTNAP2):c.3627G>A (p.Leu1209=) rs1563066734
NM_014141.6(CNTNAP2):c.3678C>G (p.Ser1226=) rs201219937
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=) rs201219937
NM_014141.6(CNTNAP2):c.3716-5_3716-4insGT rs60451214
NM_014141.6(CNTNAP2):c.3738T>A (p.Asn1246Lys)
NM_014141.6(CNTNAP2):c.3757A>G (p.Ile1253Val)
NM_014141.6(CNTNAP2):c.3781T>G (p.Ser1261Ala) rs754580386
NM_014141.6(CNTNAP2):c.3862C>A (p.Arg1288Ser) rs138661307
NM_014141.6(CNTNAP2):c.3862C>T (p.Arg1288Cys) rs138661307
NM_014141.6(CNTNAP2):c.3877T>C (p.Tyr1293His)
NM_014141.6(CNTNAP2):c.3886A>C (p.Asn1296His) rs1245295352
NM_014141.6(CNTNAP2):c.3921G>A (p.Ala1307=) rs750224036
NM_014141.6(CNTNAP2):c.3921G>T (p.Ala1307=) rs750224036
NM_014141.6(CNTNAP2):c.469C>G (p.Arg157Gly) rs577930923
NM_014141.6(CNTNAP2):c.493G>A (p.Asp165Asn)
NM_014141.6(CNTNAP2):c.512G>T (p.Arg171Leu) rs368487049
NM_014141.6(CNTNAP2):c.538G>A (p.Gly180Ser) rs777481825
NM_014141.6(CNTNAP2):c.600C>T (p.Phe200=) rs752019151
NM_014141.6(CNTNAP2):c.606C>T (p.Asn202=)
NM_014141.6(CNTNAP2):c.848G>T (p.Arg283Leu) rs764747425

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