ClinVar Miner

List of variants in gene CNTNAP2 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 105
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HGVS dbSNP
NM_014141.5(CNTNAP2):c.3476-8dupT rs778811922
NM_014141.5(CNTNAP2):c.551-8dupT rs370377093
NM_014141.6(CNTNAP2):c.1037A>G (p.Asn346Ser) rs748787013
NM_014141.6(CNTNAP2):c.1051G>A (p.Ala351Thr) rs201253086
NM_014141.6(CNTNAP2):c.1079A>G (p.Asn360Ser) rs794727873
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=) rs141439475
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994
NM_014141.6(CNTNAP2):c.1165C>T (p.Arg389Trp) rs375172684
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283
NM_014141.6(CNTNAP2):c.136G>A (p.Val46Met) rs137924687
NM_014141.6(CNTNAP2):c.1455T>C (p.Asn485=) rs370095062
NM_014141.6(CNTNAP2):c.1504C>G (p.Leu502Val) rs368470905
NM_014141.6(CNTNAP2):c.1526G>A (p.Ser509Asn) rs794726999
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=) rs535454043
NM_014141.6(CNTNAP2):c.1581C>T (p.Asp527=) rs774328147
NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys) rs76475298
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128
NM_014141.6(CNTNAP2):c.1723A>T (p.Ser575Cys) rs794727033
NM_014141.6(CNTNAP2):c.1769G>A (p.Cys590Tyr) rs398124267
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127
NM_014141.6(CNTNAP2):c.1777+7G>A rs770951811
NM_014141.6(CNTNAP2):c.180C>T (p.Pro60=) rs753396304
NM_014141.6(CNTNAP2):c.1846C>T (p.Pro616Ser) rs587780319
NM_014141.6(CNTNAP2):c.1858G>A (p.Gly620Arg) rs142980731
NM_014141.6(CNTNAP2):c.1896A>C (p.Thr632=)
NM_014141.6(CNTNAP2):c.18C>A (p.Arg6=) rs748908765
NM_014141.6(CNTNAP2):c.2023A>G (p.Ile675Val) rs886042710
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565
NM_014141.6(CNTNAP2):c.2136C>T (p.Asn712=) rs187552025
NM_014141.6(CNTNAP2):c.2147A>G (p.Tyr716Cys) rs760930032
NM_014141.6(CNTNAP2):c.2153G>A (p.Trp718Ter) rs398124268
NM_014141.6(CNTNAP2):c.2227T>C (p.Cys743Arg) rs886042257
NM_014141.6(CNTNAP2):c.2239G>A (p.Ala747Thr) rs150530671
NM_014141.6(CNTNAP2):c.2242G>T (p.Asp748Tyr) rs371691712
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503
NM_014141.6(CNTNAP2):c.2292C>T (p.His764=) rs143286960
NM_014141.6(CNTNAP2):c.2330G>C (p.Arg777Pro) rs752756517
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His) rs73464271
NM_014141.6(CNTNAP2):c.237C>T (p.Ser79=) rs145162968
NM_014141.6(CNTNAP2):c.2424C>T (p.Ser808=) rs794727172
NM_014141.6(CNTNAP2):c.2460C>A (p.Ser820Arg) rs144496909
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385
NM_014141.6(CNTNAP2):c.2593G>A (p.Gly865Arg) rs886042973
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453
NM_014141.6(CNTNAP2):c.2698C>A (p.Arg900=) rs375318010
NM_014141.6(CNTNAP2):c.2716C>T (p.Arg906Cys) rs141617212
NM_014141.6(CNTNAP2):c.273T>C (p.Asn91=) rs773595457
NM_014141.6(CNTNAP2):c.2839C>T (p.Leu947Phe) rs886042305
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020
NM_014141.6(CNTNAP2):c.29G>A (p.Gly10Glu) rs886044541
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670
NM_014141.6(CNTNAP2):c.3111C>T (p.Pro1037=) rs368108883
NM_014141.6(CNTNAP2):c.3132G>A (p.Pro1044=) rs761663690
NM_014141.6(CNTNAP2):c.3180G>A (p.Ala1060=) rs372645983
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile) rs146225600
NM_014141.6(CNTNAP2):c.3248-3T>C rs794727326
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031
NM_014141.6(CNTNAP2):c.3305T>C (p.Val1102Ala) rs111599875
NM_014141.6(CNTNAP2):c.3335C>T (p.Pro1112Leu) rs727503876
NM_014141.6(CNTNAP2):c.3355C>T (p.Arg1119Cys) rs367664952
NM_014141.6(CNTNAP2):c.3381+17A>C rs3779032
NM_014141.6(CNTNAP2):c.3382-7C>T rs189589051
NM_014141.6(CNTNAP2):c.3402G>A (p.Val1134=) rs727503877
NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln) rs189731792
NM_014141.6(CNTNAP2):c.3431C>G (p.Thr1144Ser) rs775781258
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449
NM_014141.6(CNTNAP2):c.354C>T (p.Ser118=) rs141831869
NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser) rs727503878
NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=) rs117876038
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=) rs201219937
NM_014141.6(CNTNAP2):c.3680C>T (p.Ala1227Val) rs1554427574
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884
NM_014141.6(CNTNAP2):c.3716-6_3716-5insCG rs1554431652
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691
NM_014141.6(CNTNAP2):c.3741A>C (p.Pro1247=) rs141772824
NM_014141.6(CNTNAP2):c.3796+4G>C rs886043777
NM_014141.6(CNTNAP2):c.3857T>C (p.Met1286Thr) rs150167891
NM_014141.6(CNTNAP2):c.387A>G (p.Gln129=) rs150607716
NM_014141.6(CNTNAP2):c.3902C>T (p.Ala1301Val) rs776987592
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=) rs143856702
NM_014141.6(CNTNAP2):c.3969T>G (p.Asp1323Glu) rs147968599
NM_014141.6(CNTNAP2):c.400T>G (p.Trp134Gly) rs139694086
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His) rs138738227
NM_014141.6(CNTNAP2):c.48G>T (p.Trp16Cys) rs886044073
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr) rs201326295
NM_014141.6(CNTNAP2):c.551-11T>G rs78223661
NM_014141.6(CNTNAP2):c.551-11_551-10insG rs35167289
NM_014141.6(CNTNAP2):c.653C>T (p.Thr218Met) rs771028883
NM_014141.6(CNTNAP2):c.65T>C (p.Leu22Pro) rs768374052
NM_014141.6(CNTNAP2):c.676C>A (p.Leu226Met) rs372345438
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346
NM_014141.6(CNTNAP2):c.847C>T (p.Arg283Cys) rs794727802
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383
NM_014141.6(CNTNAP2):c.945C>G (p.Thr315=) rs794727872
NM_014141.6(CNTNAP2):c.965C>T (p.Ser322Phe) rs139042086
NM_014141.6(CNTNAP2):c.97C>A (p.Gln33Lys) rs794726938

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