ClinVar Miner

List of variants in gene CNTNAP2 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 77
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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.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.2256-6A>T rs10240482 0.10641
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128 0.03626
NM_014141.6(CNTNAP2):c.3797-6C>T rs79777576 0.01899
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.1247C>T (p.Ala416Val) rs34456867 0.00548
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.1083G>A (p.Val361=) rs139180845 0.00269
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.551-11T>G rs78223661 0.00210
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565 0.00151
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00096
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385 0.00072
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.2651G>A (p.Arg884Gln) rs758630057 0.00048
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.1140T>A (p.Ala380=) rs141439475 0.00035
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521 0.00033
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994 0.00030
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654 0.00029
NM_014141.6(CNTNAP2):c.1786G>A (p.Glu596Lys) rs141064983 0.00019
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.1777+7G>A rs770951811 0.00013
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_014141.6(CNTNAP2):c.143T>C (p.Phe48Ser) rs551931845 0.00009
NM_014141.6(CNTNAP2):c.939+8T>A rs199994339 0.00008
NM_014141.6(CNTNAP2):c.653C>T (p.Thr218Met) rs771028883 0.00007
NM_014141.6(CNTNAP2):c.2717G>A (p.Arg906His) rs759801195 0.00006
NM_014141.6(CNTNAP2):c.3595G>A (p.Ala1199Thr) rs727503878 0.00006
NM_014141.6(CNTNAP2):c.402+8A>G rs201311931 0.00006
NM_014141.6(CNTNAP2):c.755-6A>T rs376466129 0.00006
NM_014141.6(CNTNAP2):c.3180G>A (p.Ala1060=) rs372645983 0.00005
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_014141.6(CNTNAP2):c.340C>T (p.Arg114Trp) rs756180841 0.00003
NM_014141.6(CNTNAP2):c.3427G>A (p.Asp1143Asn) rs765950760 0.00003
NM_014141.6(CNTNAP2):c.3783G>A (p.Ser1261=) rs778395783 0.00003
NM_014141.6(CNTNAP2):c.3857T>C (p.Met1286Thr) rs150167891 0.00003
NM_014141.6(CNTNAP2):c.485T>G (p.Val162Gly) rs587780320 0.00003
NM_014141.6(CNTNAP2):c.718C>T (p.Leu240=) rs538043826 0.00003
NM_014141.6(CNTNAP2):c.1173C>G (p.Asn391Lys) rs796052370 0.00002
NM_014141.6(CNTNAP2):c.1848T>C (p.Pro616=) rs750082302 0.00002
NM_014141.6(CNTNAP2):c.2340A>G (p.Ser780=) rs778124698 0.00002
NM_014141.6(CNTNAP2):c.3235G>A (p.Val1079Ile) rs529269450 0.00002
NM_014141.6(CNTNAP2):c.3791T>C (p.Ile1264Thr) rs376316135 0.00002
NM_014141.6(CNTNAP2):c.3918C>T (p.Ser1306=) rs774029348 0.00002
NM_014141.6(CNTNAP2):c.634A>G (p.Ile212Val) rs751076079 0.00002
NM_014141.6(CNTNAP2):c.117T>G (p.Leu39=) rs969515416 0.00001
NM_014141.6(CNTNAP2):c.18C>A (p.Arg6=) rs748908765 0.00001
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=) rs535454043
NM_014141.6(CNTNAP2):c.1566G>C (p.Gln522His) rs535454043
NM_014141.6(CNTNAP2):c.1846C>T (p.Pro616Ser) rs587780319
NM_014141.6(CNTNAP2):c.2238C>T (p.Asp746=) rs375648820
NM_014141.6(CNTNAP2):c.2323A>G (p.Thr775Ala) rs1460251447
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.2744G>A (p.Arg915His) rs369919189
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile) rs146225600
NM_014141.6(CNTNAP2):c.3248-3T>C rs794727326
NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser) rs727503878
NM_014141.6(CNTNAP2):c.3678C>G (p.Ser1226=) rs201219937
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014141.6(CNTNAP2):c.3716-5_3716-4insCTGT rs60451214
NM_014141.6(CNTNAP2):c.927C>T (p.Asp309=) rs1268578810

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