ClinVar Miner

List of variants in gene CNTNAP2 studied for History of neurodevelopmental disorder

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Total variants: 87
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HGVS dbSNP
NM_014141.6(CNTNAP2):c.*4G>A
NM_014141.6(CNTNAP2):c.1032C>T (p.Gly344=) rs142122012
NM_014141.6(CNTNAP2):c.1062G>A (p.Lys354=)
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.1105G>T (p.Val369Leu) rs368057493
NM_014141.6(CNTNAP2):c.1119G>A (p.Thr373=) rs73471053
NM_014141.6(CNTNAP2):c.1137C>T (p.Asn379=) rs78543192
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.1191C>T (p.Val397=) rs1490434881
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val) rs34456867
NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=) rs79039458
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.1377C>T (p.His459=) rs377678020
NM_014141.6(CNTNAP2):c.1455T>C (p.Asn485=) rs370095062
NM_014141.6(CNTNAP2):c.1480G>A (p.Glu494Lys) rs149032771
NM_014141.6(CNTNAP2):c.1581C>T (p.Asp527=) rs774328147
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169
NM_014141.6(CNTNAP2):c.1687T>C (p.Cys563Arg)
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128
NM_014141.6(CNTNAP2):c.1786G>A (p.Glu596Lys) rs141064983
NM_014141.6(CNTNAP2):c.1837T>C (p.Trp613Arg) rs1562998233
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=) rs61732849
NM_014141.6(CNTNAP2):c.1879G>A (p.Val627Ile) rs147447659
NM_014141.6(CNTNAP2):c.1943C>T (p.Thr648Met) rs534215627
NM_014141.6(CNTNAP2):c.1999G>A (p.Ala667Thr)
NM_014141.6(CNTNAP2):c.2047G>A (p.Glu683Lys) rs372580822
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654
NM_014141.6(CNTNAP2):c.2197G>A (p.Glu733Lys) rs991842796
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.2369G>A (p.Arg790His) rs73464271
NM_014141.6(CNTNAP2):c.2460C>T (p.Ser820=) rs144496909
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385
NM_014141.6(CNTNAP2):c.2541G>A (p.Lys847=)
NM_014141.6(CNTNAP2):c.2610A>G (p.Val870=) rs1563214691
NM_014141.6(CNTNAP2):c.2689C>A (p.Gln897Lys) rs200300251
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020
NM_014141.6(CNTNAP2):c.2895C>A (p.Gly965=) rs75688908
NM_014141.6(CNTNAP2):c.2968G>A (p.Asp990Asn) rs1060503572
NM_014141.6(CNTNAP2):c.3018T>C (p.Gly1006=) rs1562998457
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670
NM_014141.6(CNTNAP2):c.3109C>T (p.Pro1037Ser)
NM_014141.6(CNTNAP2):c.3111C>T (p.Pro1037=) rs368108883
NM_014141.6(CNTNAP2):c.3179C>T (p.Ala1060Val) rs369254596
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile) rs146225600
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031
NM_014141.6(CNTNAP2):c.3305T>C (p.Val1102Ala) rs111599875
NM_014141.6(CNTNAP2):c.3361G>C (p.Glu1121Gln) rs572154707
NM_014141.6(CNTNAP2):c.3408C>A (p.Tyr1136Ter)
NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln) rs189731792
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449
NM_014141.6(CNTNAP2):c.3549G>C (p.Gln1183His) rs1316112335
NM_014141.6(CNTNAP2):c.3558G>C (p.Gln1186His) rs1563066657
NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr) rs751491210
NM_014141.6(CNTNAP2):c.3585G>A (p.Arg1195=) rs77789547
NM_014141.6(CNTNAP2):c.3607G>C (p.Val1203Leu)
NM_014141.6(CNTNAP2):c.3627G>A (p.Leu1209=) rs1563066734
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292
NM_014141.6(CNTNAP2):c.3675G>A (p.Ser1225=) rs142331907
NM_014141.6(CNTNAP2):c.3678C>G (p.Ser1226=)
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=) rs201219937
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521
NM_014141.6(CNTNAP2):c.3886A>C (p.Asn1296His) rs1245295352
NM_014141.6(CNTNAP2):c.3903G>A (p.Ala1301=) rs146206159
NM_014141.6(CNTNAP2):c.3908C>T (p.Ser1303Leu)
NM_014141.6(CNTNAP2):c.3921G>T (p.Ala1307=)
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=) rs143856702
NM_014141.6(CNTNAP2):c.469C>G (p.Arg157Gly)
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His) rs138738227
NM_014141.6(CNTNAP2):c.512G>T (p.Arg171Leu) rs368487049
NM_014141.6(CNTNAP2):c.538G>A (p.Gly180Ser)
NM_014141.6(CNTNAP2):c.561T>C (p.Val187=) rs201200400
NM_014141.6(CNTNAP2):c.633C>A (p.Val211=) rs140505542
NM_014141.6(CNTNAP2):c.653C>T (p.Thr218Met) rs771028883
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.766C>T (p.Leu256Phe)
NM_014141.6(CNTNAP2):c.834T>C (p.Ser278=) rs61732854
NM_014141.6(CNTNAP2):c.848G>T (p.Arg283Leu)
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383

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