ClinVar Miner

List of variants in gene CNTNAP2 reported as likely benign for not specified

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Gene type:
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Total variants: 84
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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.318C>T (p.Ser106=) rs61732853 0.01773
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=) rs61732849 0.01075
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val) rs34456867 0.00548
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.2609T>C (p.Val870Ala) rs138481453 0.00096
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385 0.00072
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=) rs141439475 0.00035
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.515T>C (p.Ile172Thr) rs201326295 0.00017
NM_014141.6(CNTNAP2):c.1897+8T>A rs769157591 0.00014
NM_014141.6(CNTNAP2):c.1083+16C>T rs371536143 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.98-20T>G rs199901768 0.00013
NM_014141.6(CNTNAP2):c.2517T>C (p.Asn839=) rs143358892 0.00012
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_014141.6(CNTNAP2):c.939+8T>A rs199994339 0.00008
NM_014141.6(CNTNAP2):c.3234C>T (p.Leu1078=) rs199563642 0.00007
NM_014141.6(CNTNAP2):c.3360C>T (p.His1120=) rs563414260 0.00007
NM_014141.6(CNTNAP2):c.1083+17G>A rs112266985 0.00006
NM_014141.6(CNTNAP2):c.2554+14G>T rs546437079 0.00005
NM_014141.6(CNTNAP2):c.3180G>A (p.Ala1060=) rs372645983 0.00005
NM_014141.6(CNTNAP2):c.2383+15C>T rs748783925 0.00004
NM_014141.6(CNTNAP2):c.-46A>T rs796052368 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.3426C>G (p.Ser1142=) rs749926530 0.00003
NM_014141.6(CNTNAP2):c.3783G>A (p.Ser1261=) rs778395783 0.00003
NM_014141.6(CNTNAP2):c.-35G>T rs191830389 0.00002
NM_014141.6(CNTNAP2):c.1068A>G (p.Leu356=) rs773110260 0.00002
NM_014141.6(CNTNAP2):c.1848T>C (p.Pro616=) rs750082302 0.00002
NM_014141.6(CNTNAP2):c.2295G>A (p.Leu765=) rs985931303 0.00002
NM_014141.6(CNTNAP2):c.3540C>T (p.Ser1180=) rs377629345 0.00002
NM_014141.6(CNTNAP2):c.3918C>T (p.Ser1306=) rs774029348 0.00002
NM_014141.6(CNTNAP2):c.2604G>A (p.Glu868=) rs267601389 0.00001
NM_014141.6(CNTNAP2):c.3402G>A (p.Val1134=) rs727503877 0.00001
NM_014141.6(CNTNAP2):c.3475+15C>T rs201902109 0.00001
NM_014141.6(CNTNAP2):c.3475+16G>A rs193228886 0.00001
NM_014141.6(CNTNAP2):c.3476-7C>T rs1057520468 0.00001
NM_014141.6(CNTNAP2):c.3834C>T (p.Thr1278=) rs147111339 0.00001
NM_014141.6(CNTNAP2):c.3939C>T (p.Asn1313=) rs777786908 0.00001
NM_014141.6(CNTNAP2):c.402+13C>A rs532060379 0.00001
NM_014141.6(CNTNAP2):c.741C>G (p.Leu247=) rs540045509 0.00001
NM_014141.6(CNTNAP2):c.754+14G>C rs745882468 0.00001
NM_014141.6(CNTNAP2):c.755-4G>A rs756256467 0.00001
NM_014141.6(CNTNAP2):c.9G>C (p.Ala3=) rs1237807319 0.00001
NM_014141.6(CNTNAP2):c.1165C>A (p.Arg389=) rs375172684
NM_014141.6(CNTNAP2):c.133C>T (p.His45Tyr) rs746922194
NM_014141.6(CNTNAP2):c.1349-13T>G rs1057523006
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=) rs535454043
NM_014141.6(CNTNAP2):c.2043C>T (p.Tyr681=) rs779865638
NM_014141.6(CNTNAP2):c.209-28_209-15del rs1064794953
NM_014141.6(CNTNAP2):c.2169T>A (p.Pro723=) rs1057522208
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.2384-16dup rs756290919
NM_014141.6(CNTNAP2):c.3247+16C>A rs370512570
NM_014141.6(CNTNAP2):c.3475+19A>C rs749665763
NM_014141.6(CNTNAP2):c.3476-15_3476-12dup rs1554427506
NM_014141.6(CNTNAP2):c.348C>G (p.Leu116=) rs1344490369
NM_014141.6(CNTNAP2):c.3678C>G (p.Ser1226=) rs201219937
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014141.6(CNTNAP2):c.3716-3C>T rs773258369
NM_014141.6(CNTNAP2):c.551-8dup rs370377093
NM_014141.6(CNTNAP2):c.83C>T (p.Ala28Val) rs796052366
NM_014141.6(CNTNAP2):c.849C>A (p.Arg283=) rs1057521398
NM_014141.6(CNTNAP2):c.927C>T (p.Asp309=) rs1268578810
NM_014141.6(CNTNAP2):c.939+6T>C rs762720427
NM_014141.6(CNTNAP2):c.966T>C (p.Ser322=) rs954835249

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