ClinVar Miner

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

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Gene type:
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Total variants: 142
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.2255+259G>A rs77160761 0.04560
NM_014141.6(CNTNAP2):c.2255+100C>T rs17170742 0.04514
NM_014141.6(CNTNAP2):c.3247+232G>A rs116804492 0.03689
NM_014141.6(CNTNAP2):c.1499-293A>G rs73475245 0.03301
NM_014141.6(CNTNAP2):c.551-121G>C rs10240415 0.03201
NM_014141.6(CNTNAP2):c.1083+282T>C rs75399858 0.03085
NM_014141.6(CNTNAP2):c.98-90671A>G rs111344993 0.02359
NM_014141.6(CNTNAP2):c.98-90923A>C rs73166380 0.02020
NM_014141.6(CNTNAP2):c.402+241G>A rs75366057 0.01773
NM_014141.6(CNTNAP2):c.98-190G>T rs77197724 0.01608
NM_014141.6(CNTNAP2):c.1778-106A>G rs73464944 0.01350
NM_014141.6(CNTNAP2):c.2554+297T>A rs77576413 0.01198
NM_014141.6(CNTNAP2):c.1349-34A>G rs114270200 0.01180
NM_014141.6(CNTNAP2):c.1083+222T>A rs116349161 0.01178
NM_014141.6(CNTNAP2):c.551-211C>G rs12113556 0.01012
NM_014141.6(CNTNAP2):c.551-254A>G rs116855483 0.00969
NM_014141.6(CNTNAP2):c.3475+46T>G rs114724335 0.00938
NM_014141.6(CNTNAP2):c.98-140690T>C rs116171641 0.00938
NM_014141.6(CNTNAP2):c.98-90894A>C rs148183904 0.00901
NM_014141.6(CNTNAP2):c.3248-244G>A rs150633401 0.00892
NM_014141.6(CNTNAP2):c.*3328G>A rs77103373 0.00878
NM_014141.6(CNTNAP2):c.98-91041A>C rs142050527 0.00792
NM_014141.6(CNTNAP2):c.2256-262C>T rs79688382 0.00782
NM_014141.6(CNTNAP2):c.939+286G>C rs116271680 0.00740
NM_014141.6(CNTNAP2):c.1083+22A>G rs142524655 0.00734
NM_014141.6(CNTNAP2):c.2555-115C>T rs114551495 0.00710
NM_014141.6(CNTNAP2):c.1777+137C>T rs576126082 0.00699
NM_014141.6(CNTNAP2):c.98-56C>A rs116479521 0.00645
NM_014141.6(CNTNAP2):c.98-41G>A rs112724037 0.00631
NM_014141.6(CNTNAP2):c.98-104A>G rs148853070 0.00630
NM_014141.6(CNTNAP2):c.*3838G>A rs11982851 0.00623
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292 0.00609
NM_014141.6(CNTNAP2):c.1777+23T>C rs77812427 0.00554
NM_014141.6(CNTNAP2):c.1777+281G>A rs145175970 0.00531
NM_014141.6(CNTNAP2):c.2384-111A>C rs140455470 0.00501
NM_014141.6(CNTNAP2):c.2384-38G>T rs150399194 0.00487
NM_014141.6(CNTNAP2):c.2098+75G>T rs113503965 0.00469
NM_014141.6(CNTNAP2):c.3715+275G>A rs114864459 0.00450
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383 0.00405
NM_014141.6(CNTNAP2):c.3247+83G>A rs111867734 0.00390
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.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.3475+30C>T rs185435551 0.00199
NM_014141.6(CNTNAP2):c.940-28G>A rs115730262 0.00158
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565 0.00151
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385 0.00072
NM_014141.6(CNTNAP2):c.3475+37C>T rs77190226 0.00059
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_014141.6(CNTNAP2):c.1777+13T>G rs188140291 0.00039
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.633C>A (p.Val211=) rs140505542 0.00032
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654 0.00029
NM_014141.6(CNTNAP2):c.387A>G (p.Gln129=) rs150607716 0.00029
NM_014141.6(CNTNAP2):c.3174C>G (p.Thr1058=) rs143226012 0.00026
NM_014141.6(CNTNAP2):c.3968A>C (p.Asp1323Ala) rs142434274 0.00018
NM_014141.6(CNTNAP2):c.1480G>A (p.Glu494Lys) rs149032771 0.00017
NM_014141.6(CNTNAP2):c.550+36T>C rs200736560 0.00017
NM_014141.6(CNTNAP2):c.3903G>A (p.Ala1301=) rs146206159 0.00016
NM_014141.6(CNTNAP2):c.2706G>A (p.Pro902=) rs537291804 0.00007
NM_014141.6(CNTNAP2):c.645C>T (p.Asn215=) rs776956365 0.00007
NM_014141.6(CNTNAP2):c.1632C>T (p.Phe544=) rs778731812 0.00006
NM_014141.6(CNTNAP2):c.3111C>T (p.Pro1037=) rs368108883 0.00006
NM_014141.6(CNTNAP2):c.3476-9T>G rs998363584 0.00006
NM_014141.6(CNTNAP2):c.3576C>T (p.Ala1192=) rs764089965 0.00006
NM_014141.6(CNTNAP2):c.3271C>G (p.Leu1091Val) rs756994633 0.00005
NM_014141.6(CNTNAP2):c.1062G>A (p.Lys354=) rs1034170979 0.00004
NM_014141.6(CNTNAP2):c.1349-8C>T rs373995666 0.00004
NM_014141.6(CNTNAP2):c.447A>G (p.Glu149=) rs756407470 0.00004
NM_014141.6(CNTNAP2):c.894C>T (p.His298=) rs200961501 0.00004
NM_014141.6(CNTNAP2):c.180C>T (p.Pro60=) rs753396304 0.00003
NM_014141.6(CNTNAP2):c.2046C>T (p.Cys682=) rs201076428 0.00003
NM_014141.6(CNTNAP2):c.209-12G>C rs373492025 0.00003
NM_014141.6(CNTNAP2):c.234C>T (p.Asp78=) rs757110790 0.00003
NM_014141.6(CNTNAP2):c.3783G>A (p.Ser1261=) rs778395783 0.00003
NM_014141.6(CNTNAP2):c.3797-5G>A rs745770134 0.00003
NM_014141.6(CNTNAP2):c.3942C>T (p.Asn1314=) rs757442166 0.00003
NM_014141.6(CNTNAP2):c.1166G>A (p.Arg389Gln) rs548409884 0.00002
NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys) rs76475298 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.3303C>T (p.Asp1101=) rs772181075 0.00002
NM_014141.6(CNTNAP2):c.3873C>T (p.Gly1291=) rs780026745 0.00002
NM_014141.6(CNTNAP2):c.3990C>T (p.Leu1330=) rs1057522590 0.00002
NM_014141.6(CNTNAP2):c.654G>A (p.Thr218=) rs776620656 0.00002
NM_014141.6(CNTNAP2):c.1263T>C (p.Asn421=) rs369718091 0.00001
NM_014141.6(CNTNAP2):c.1413T>A (p.Ile471=) rs376233595 0.00001
NM_014141.6(CNTNAP2):c.1422C>T (p.Ile474=) rs905342266 0.00001
NM_014141.6(CNTNAP2):c.1755C>T (p.Tyr585=) rs766920511 0.00001
NM_014141.6(CNTNAP2):c.1857C>T (p.Ser619=) rs753699122 0.00001
NM_014141.6(CNTNAP2):c.1989C>T (p.Leu663=) rs766429279 0.00001
NM_014141.6(CNTNAP2):c.2541G>A (p.Lys847=) rs746676806 0.00001
NM_014141.6(CNTNAP2):c.3011-3C>T rs747361414 0.00001
NM_014141.6(CNTNAP2):c.3132G>A (p.Pro1044=) rs761663690 0.00001
NM_014141.6(CNTNAP2):c.3198C>T (p.Tyr1066=) rs772842467 0.00001
NM_014141.6(CNTNAP2):c.3248-10T>C rs999378427 0.00001
NM_014141.6(CNTNAP2):c.3248-6C>A rs761966497 0.00001
NM_014141.6(CNTNAP2):c.3594C>T (p.Asn1198=) rs755187817 0.00001
NM_014141.6(CNTNAP2):c.3606C>T (p.His1202=) rs771490764 0.00001
NM_014141.6(CNTNAP2):c.591A>G (p.Pro197=) rs147652359 0.00001
NM_014141.6(CNTNAP2):c.687A>G (p.Glu229=) rs767033703 0.00001
NM_014141.6(CNTNAP2):c.87C>T (p.Pro29=) rs886062049 0.00001
NM_014141.6(CNTNAP2):c.936T>C (p.Tyr312=) rs774997884 0.00001
GRCh37/hg19 7q35(chr7:145998567-146267257)x1
NM_014141.6(CNTNAP2):c.*5281G>A rs540704185
NM_014141.6(CNTNAP2):c.1101T>C (p.Ser367=) rs750626971
NM_014141.6(CNTNAP2):c.1105G>A (p.Val369Met) rs368057493
NM_014141.6(CNTNAP2):c.1299T>G (p.Val433=) rs1315845582
NM_014141.6(CNTNAP2):c.1670+176T>A rs116178402
NM_014141.6(CNTNAP2):c.1777+158dup rs4015951
NM_014141.6(CNTNAP2):c.1794C>G (p.Ser598=) rs2116789280
NM_014141.6(CNTNAP2):c.1898-252del rs71874555
NM_014141.6(CNTNAP2):c.2136C>T (p.Asn712=) rs187552025
NM_014141.6(CNTNAP2):c.2356G>A (p.Val786Ile) rs138517537
NM_014141.6(CNTNAP2):c.2361T>C (p.Gly787=) rs1585058238
NM_014141.6(CNTNAP2):c.2421C>T (p.Ser807=) rs2116608285
NM_014141.6(CNTNAP2):c.2511T>G (p.Leu837=) rs1456562222
NM_014141.6(CNTNAP2):c.2773+75_2773+76del rs5888307
NM_014141.6(CNTNAP2):c.286A>G (p.Ser96Gly) rs540745201
NM_014141.6(CNTNAP2):c.3156C>T (p.Arg1052=) rs1585194727
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile) rs146225600
NM_014141.6(CNTNAP2):c.3243C>T (p.Pro1081=) rs1795666152
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.369C>T (p.Asn123=)
NM_014141.6(CNTNAP2):c.3716-5_3716-4insCTGT rs60451214
NM_014141.6(CNTNAP2):c.3716-6delinsTTCTG rs71188981
NM_014141.6(CNTNAP2):c.3716-9T>C rs2116714540
NM_014141.6(CNTNAP2):c.3921G>T (p.Ala1307=) rs750224036
NM_014141.6(CNTNAP2):c.551-7G>T rs768621629
NM_014141.6(CNTNAP2):c.57C>T (p.Ser19=) rs1584757130
NM_014141.6(CNTNAP2):c.711C>T (p.Thr237=) rs2129279579
NM_014141.6(CNTNAP2):c.813G>A (p.Leu271=) rs1057522233
NM_014141.6(CNTNAP2):c.939+9G>C rs942290509
NM_014141.6(CNTNAP2):c.940-13C>A rs774172418
NM_014141.6(CNTNAP2):c.97+22C>T rs375492857
NM_014141.6(CNTNAP2):c.97+49T>G rs139443887

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