ClinVar Miner

List of variants in gene CNTNAP2 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 160
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.3382-142G>C rs10248273 0.98647
NM_014141.6(CNTNAP2):c.3797-275T>C rs2530313 0.94574
NM_014141.6(CNTNAP2):c.1777+266T>G rs1468370 0.79993
NM_014141.6(CNTNAP2):c.1670+168T>G rs700309 0.78656
NM_014141.6(CNTNAP2):c.3247+269T>G rs12333931 0.77291
NM_014141.6(CNTNAP2):c.1349-30T>A rs2692185 0.77226
NM_014141.6(CNTNAP2):c.3382-200C>G rs3801974 0.75533
NM_014141.6(CNTNAP2):c.3382-34G>A rs3801976 0.75395
NM_014141.6(CNTNAP2):c.3382-109A>G rs3801975 0.75388
NM_014141.6(CNTNAP2):c.*279C>A rs987456 0.71838
NM_014141.6(CNTNAP2):c.3476-94T>G rs1637841 0.71639
NM_014141.6(CNTNAP2):c.3476-144C>T rs1637842 0.71360
NM_014141.6(CNTNAP2):c.3476-242T>C rs1637843 0.71343
NM_014141.6(CNTNAP2):c.1897+202C>T rs2074713 0.70810
NM_014141.6(CNTNAP2):c.1897+89A>G rs2074714 0.67837
NM_014141.6(CNTNAP2):c.2099-53C>A rs2538962 0.63258
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691 0.57506
NM_014141.6(CNTNAP2):c.3475+159A>G rs13240892 0.54981
NM_014141.5(CNTNAP2):c.-115G>A rs2462603 0.49254
NM_014141.6(CNTNAP2):c.*3742A>G rs2530311 0.47166
NM_014141.6(CNTNAP2):c.1778-239A>G rs4615480 0.46950
NM_014141.6(CNTNAP2):c.1778-264A>C rs4615479 0.46947
NM_014141.6(CNTNAP2):c.1897+25A>G rs2074715 0.46942
NM_014141.6(CNTNAP2):c.2256-276T>C rs10243319 0.46193
NM_014141.6(CNTNAP2):c.2256-203T>C rs4296960 0.46176
NM_014141.6(CNTNAP2):c.2256-42T>C rs2373284 0.46059
NM_014141.6(CNTNAP2):c.98-240662G>A rs801934 0.45114
NM_014141.6(CNTNAP2):c.98-240771G>A rs801935 0.43524
NM_014141.6(CNTNAP2):c.551-11_551-10insG rs35167289 0.42413
NM_014141.6(CNTNAP2):c.1083+133A>G rs3807570 0.40611
NM_014141.6(CNTNAP2):c.3381+17A>C rs3779032 0.39925
NM_014141.6(CNTNAP2):c.*1557A>C rs3194 0.35771
NM_014141.6(CNTNAP2):c.3796+191A>G rs11764737 0.34744
NM_014141.6(CNTNAP2):c.3476-278C>T rs10808052 0.33112
NM_014141.6(CNTNAP2):c.1498+242A>C rs1479837 0.29972
NM_014141.6(CNTNAP2):c.3796+91T>C rs13241417 0.28630
NM_014141.6(CNTNAP2):c.3797-61A>T rs55997413 0.27479
NM_014141.6(CNTNAP2):c.2554+283T>A rs10265509 0.27445
NM_014141.6(CNTNAP2):c.2383+183G>A rs2373285 0.23887
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503 0.22240
NM_014141.6(CNTNAP2):c.1778-125G>A rs4425670 0.22205
NM_014141.6(CNTNAP2):c.755-188A>T rs34296005 0.21419
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.1499-86C>T rs700308 0.12365
NM_014141.6(CNTNAP2):c.*3928C>T rs73473919 0.11111
NM_014141.6(CNTNAP2):c.*1412_*1422dup rs140518677 0.10996
NM_014141.6(CNTNAP2):c.2256-74G>A rs10253762 0.10643
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482 0.10641
NM_014141.6(CNTNAP2):c.98-90785C>A rs735162 0.09385
NM_014141.6(CNTNAP2):c.3797-101G>C rs73473910 0.08796
NM_014141.6(CNTNAP2):c.98-279C>A rs73170322 0.06835
NM_014141.6(CNTNAP2):c.403-148A>G rs74422781 0.06128
NM_014141.6(CNTNAP2):c.3796+88G>A rs117098826 0.04539
NM_014141.6(CNTNAP2):c.2099-15T>C rs75858942 0.04429
NM_014141.6(CNTNAP2):c.*3531G>A rs79360609 0.04371
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128 0.03626
NM_014141.6(CNTNAP2):c.98-190677C>T rs56149121 0.03616
NM_014141.6(CNTNAP2):c.1777+54C>T rs2286126 0.03594
NM_014141.6(CNTNAP2):c.939+142C>A rs111679612 0.03575
NM_014141.6(CNTNAP2):c.1897+259A>T rs73164325 0.03473
NM_014141.6(CNTNAP2):c.1498+232T>C rs7804175 0.03119
NM_014141.6(CNTNAP2):c.98-240362T>G rs801933 0.03064
NM_014141.6(CNTNAP2):c.2098+232G>T rs13438666 0.03007
NM_014141.6(CNTNAP2):c.*3392C>T rs115420302 0.02775
NM_014141.6(CNTNAP2):c.*3540G>A rs114585910 0.02773
NM_014141.6(CNTNAP2):c.3476-15C>A rs77706740 0.02606
NM_014141.6(CNTNAP2):c.402+132T>C rs6953511 0.02224
NM_014141.6(CNTNAP2):c.551-185C>T rs76659639 0.02039
NM_014141.6(CNTNAP2):c.2256-271A>C rs73747305 0.01908
NM_014141.6(CNTNAP2):c.1084-113del rs148733811 0.01906
NM_014141.6(CNTNAP2):c.3797-6C>T rs79777576 0.01899
NM_014141.6(CNTNAP2):c.*3921G>A rs141005348 0.01856
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853 0.01773
NM_014141.6(CNTNAP2):c.*48G>A rs78018010 0.01715
NM_014141.6(CNTNAP2):c.3796+258C>G rs142102006 0.01621
NM_014141.6(CNTNAP2):c.1083+266C>T rs115629474 0.01614
NM_014141.6(CNTNAP2):c.*1433A>G rs78484397 0.01362
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.3382-7C>T rs189589051 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.3105C>T (p.Asn1035=) rs112483670 0.00264
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073 0.00236
NM_014141.6(CNTNAP2):c.551-11T>G rs78223661 0.00210
NM_014141.6(CNTNAP2):c.3247+16C>T rs370512570 0.00124
NM_014141.6(CNTNAP2):c.-49T>G rs549396215 0.00123
NM_014141.6(CNTNAP2):c.3011-11C>T rs201397443 0.00097
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.2292C>T (p.His764=) rs143286960 0.00063
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_014141.6(CNTNAP2):c.1897+18A>G rs139242986 0.00041
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=) rs143856702 0.00041
NM_014141.6(CNTNAP2):c.1777+13T>G rs188140291 0.00039
NM_014141.6(CNTNAP2):c.3247+15A>G rs201602527 0.00036
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=) rs141439475 0.00035
NM_014141.6(CNTNAP2):c.1032C>T (p.Gly344=) rs142122012 0.00030
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.1455T>C (p.Asn485=) rs370095062 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.940-17A>T rs374812409 0.00019
NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=) rs117876038 0.00016
NM_014141.6(CNTNAP2):c.3741A>C (p.Pro1247=) rs141772824 0.00014
NM_014141.6(CNTNAP2):c.1777+7G>A rs770951811 0.00013
NM_014141.6(CNTNAP2):c.3381+20T>C rs587780902 0.00011
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_014141.6(CNTNAP2):c.1898-9T>C rs372830287 0.00006
NM_014141.6(CNTNAP2):c.402+8A>G rs201311931 0.00006
NM_014141.6(CNTNAP2):c.237C>T (p.Ser79=) rs145162968 0.00004
NM_014141.6(CNTNAP2):c.3248-17T>A rs199753492 0.00004
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_014141.6(CNTNAP2):c.1896A>C (p.Thr632=) rs749646225 0.00003
NM_014141.6(CNTNAP2):c.3654G>A (p.Pro1218=) rs141764220 0.00003
NM_014141.6(CNTNAP2):c.-32C>T rs587780903 0.00001
NM_014141.6(CNTNAP2):c.1778-7G>A rs771225636 0.00001
NM_014141.6(CNTNAP2):c.273T>C (p.Asn91=) rs773595457 0.00001
NM_014141.6(CNTNAP2):c.2773+9T>C rs1433023482 0.00001
NC_000007.14:g.146116216GCG[6] rs145880908
NM_014141.5(CNTNAP2):c.-331delT rs886062041
NM_014141.6(CNTNAP2):c.*1276_*1280dup rs369615005
NM_014141.6(CNTNAP2):c.*175dup rs61125105
NM_014141.6(CNTNAP2):c.*3998_*3999dup rs35835723
NM_014141.6(CNTNAP2):c.*3999dup rs35835723
NM_014141.6(CNTNAP2):c.*9T>C rs539868299
NM_014141.6(CNTNAP2):c.1348+13T>G rs200282837
NM_014141.6(CNTNAP2):c.1498+117AAAC[3] rs3837092
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=) rs535454043
NM_014141.6(CNTNAP2):c.1765A>C (p.Thr589Pro) rs200239604
NM_014141.6(CNTNAP2):c.1777+156_1777+158del rs4015951
NM_014141.6(CNTNAP2):c.1777+157_1777+158del rs4015951
NM_014141.6(CNTNAP2):c.1898-252dup rs71874555
NM_014141.6(CNTNAP2):c.208+66AT[7] rs113167298
NM_014141.6(CNTNAP2):c.2098+196del rs150584413
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.2554+250C>T rs71532715
NM_014141.6(CNTNAP2):c.2773+76del rs5888307
NM_014141.6(CNTNAP2):c.2773+76dup rs5888307
NM_014141.6(CNTNAP2):c.3011-167dup rs11384134
NM_014141.6(CNTNAP2):c.3660C>A (p.Thr1220=) rs573467341
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=) rs201219937
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014141.6(CNTNAP2):c.3716-5_3716-4insGT rs60451214
NM_014141.6(CNTNAP2):c.3716-7_3716-6insTT rs72268642
NM_014141.6(CNTNAP2):c.550+148AT[6] rs148378854
NM_014141.6(CNTNAP2):c.755-147G>T rs112859389
NM_014141.6(CNTNAP2):c.755-258C>A rs75216987
NM_014141.6(CNTNAP2):c.98-19_98-16del rs796052367
NM_014141.6(CNTNAP2):c.98-90737G>T rs903350

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.