ClinVar Miner

List of variants reported as likely benign for Epilepsy, familial adult myoclonic, 5

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 348
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.391+12G>A rs16855012 0.01337
NM_005076.5(CNTN2):c.505C>T (p.Leu169Phe) rs142502980 0.00224
NM_005076.5(CNTN2):c.1287C>T (p.Pro429=) rs145911280 0.00202
NM_005076.5(CNTN2):c.1656C>A (p.Asp552Glu) rs145352110 0.00182
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr) rs147693556 0.00148
NM_005076.5(CNTN2):c.2155G>A (p.Gly719Arg) rs144056952 0.00082
NM_005076.5(CNTN2):c.3085G>A (p.Val1029Met) rs139534426 0.00054
NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile) rs116647440 0.00047
NM_005076.5(CNTN2):c.2132C>T (p.Ser711Leu) rs114879710 0.00038
NM_005076.5(CNTN2):c.2835C>T (p.Thr945=) rs141466578 0.00035
NM_005076.5(CNTN2):c.487+20C>A rs201600070 0.00031
NM_005076.5(CNTN2):c.2844+11A>C rs377297728 0.00019
NM_005076.5(CNTN2):c.1755C>T (p.Tyr585=) rs575768659 0.00016
NM_005076.5(CNTN2):c.2514G>A (p.Gln838=) rs144293383 0.00015
NM_005076.5(CNTN2):c.1215C>T (p.Tyr405=) rs764907069 0.00013
NM_005076.5(CNTN2):c.1344C>T (p.Ala448=) rs778178054 0.00010
NM_005076.5(CNTN2):c.1738C>T (p.Arg580Cys) rs185787873 0.00010
NM_005076.5(CNTN2):c.2760C>T (p.Ser920=) rs201621031 0.00010
NM_005076.5(CNTN2):c.537G>C (p.Thr179=) rs143379833 0.00010
NM_005076.5(CNTN2):c.1519+10G>A rs193063011 0.00009
NM_005076.5(CNTN2):c.1602C>T (p.His534=) rs760905192 0.00009
NM_005076.5(CNTN2):c.1653C>T (p.Ile551=) rs147493920 0.00008
NM_005076.5(CNTN2):c.1758G>A (p.Thr586=) rs188155444 0.00008
NM_005076.5(CNTN2):c.2985T>C (p.Pro995=) rs138239566 0.00008
NM_005076.5(CNTN2):c.1216G>A (p.Ala406Thr) rs752262787 0.00007
NM_005076.5(CNTN2):c.2649G>A (p.Lys883=) rs772173976 0.00007
NM_005076.5(CNTN2):c.843C>T (p.Ser281=) rs150754227 0.00007
NM_005076.5(CNTN2):c.846G>A (p.Pro282=) rs180849149 0.00007
NM_005076.5(CNTN2):c.1114C>T (p.Arg372Trp) rs538644037 0.00006
NM_005076.5(CNTN2):c.1641C>T (p.Asp547=) rs150567846 0.00006
NM_005076.5(CNTN2):c.186C>T (p.Arg62=) rs762058787 0.00006
NM_005076.5(CNTN2):c.1976-14C>G rs377135513 0.00006
NM_005076.5(CNTN2):c.238A>G (p.Met80Val) rs776309126 0.00006
NM_005076.5(CNTN2):c.2432-12A>G rs750433164 0.00006
NM_005076.5(CNTN2):c.2608G>A (p.Asp870Asn) rs201107921 0.00006
NM_005076.5(CNTN2):c.703C>T (p.Arg235Trp) rs747208674 0.00006
NM_005076.5(CNTN2):c.704G>A (p.Arg235Gln) rs2229867 0.00006
NM_005076.5(CNTN2):c.786C>T (p.Phe262=) rs369368742 0.00006
NM_005076.5(CNTN2):c.261T>C (p.Arg87=) rs767771094 0.00005
NM_005076.5(CNTN2):c.609C>T (p.Gly203=) rs762080946 0.00005
NM_005076.5(CNTN2):c.699T>C (p.Asp233=) rs370282258 0.00005
NM_005076.5(CNTN2):c.974-12G>C rs201080048 0.00005
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser) rs371816961 0.00004
NM_005076.5(CNTN2):c.1241-3T>C rs200577280 0.00004
NM_005076.5(CNTN2):c.1368G>A (p.Thr456=) rs139907473 0.00004
NM_005076.5(CNTN2):c.1391+7C>A rs748759051 0.00004
NM_005076.5(CNTN2):c.1392-6C>T rs749779814 0.00004
NM_005076.5(CNTN2):c.1728C>T (p.Asn576=) rs766092588 0.00004
NM_005076.5(CNTN2):c.1773G>A (p.Thr591=) rs760280337 0.00004
NM_005076.5(CNTN2):c.1788G>A (p.Ala596=) rs151320977 0.00004
NM_005076.5(CNTN2):c.2001C>T (p.Ala667=) rs1307242710 0.00004
NM_005076.5(CNTN2):c.3084C>T (p.Ser1028=) rs374947887 0.00004
NM_005076.5(CNTN2):c.318C>T (p.Ala106=) rs372422500 0.00004
NM_005076.5(CNTN2):c.488-5C>T rs928434851 0.00004
NM_005076.5(CNTN2):c.534G>A (p.Pro178=) rs151020999 0.00004
NM_005076.5(CNTN2):c.831C>T (p.Asp277=) rs199743054 0.00004
NM_005076.5(CNTN2):c.867C>T (p.Pro289=) rs143847367 0.00004
NM_005076.5(CNTN2):c.912C>T (p.Tyr304=) rs762026633 0.00004
NM_005076.5(CNTN2):c.1002G>A (p.Ser334=) rs766457094 0.00003
NM_005076.5(CNTN2):c.1110+10A>G rs775868225 0.00003
NM_005076.5(CNTN2):c.1110+19C>G rs752064350 0.00003
NM_005076.5(CNTN2):c.1221C>T (p.Ser407=) rs774139246 0.00003
NM_005076.5(CNTN2):c.1240+18G>T rs200630793 0.00003
NM_005076.5(CNTN2):c.1734G>A (p.Gln578=) rs200403480 0.00003
NM_005076.5(CNTN2):c.1860C>T (p.Gly620=) rs149350213 0.00003
NM_005076.5(CNTN2):c.1914C>T (p.Ile638=) rs1193381104 0.00003
NM_005076.5(CNTN2):c.2037G>A (p.Met679Ile) rs376343938 0.00003
NM_005076.5(CNTN2):c.2126-16C>T rs202038605 0.00003
NM_005076.5(CNTN2):c.215+12G>A rs769149441 0.00003
NM_005076.5(CNTN2):c.2340C>G (p.Pro780=) rs975647789 0.00003
NM_005076.5(CNTN2):c.2880G>A (p.Thr960=) rs1201954383 0.00003
NM_005076.5(CNTN2):c.2934C>A (p.Gly978=) rs138851018 0.00003
NM_005076.5(CNTN2):c.513C>T (p.Asn171=) rs371187600 0.00003
NM_005076.5(CNTN2):c.697+20G>A rs906628634 0.00003
NM_005076.5(CNTN2):c.1050C>T (p.Ala350=) rs142610365 0.00002
NM_005076.5(CNTN2):c.1233C>T (p.Ala411=) rs748305651 0.00002
NM_005076.5(CNTN2):c.1290G>A (p.Ala430=) rs748381947 0.00002
NM_005076.5(CNTN2):c.159G>A (p.Thr53=) rs907497961 0.00002
NM_005076.5(CNTN2):c.1608C>T (p.Pro536=) rs771101678 0.00002
NM_005076.5(CNTN2):c.1696-8G>A rs766657667 0.00002
NM_005076.5(CNTN2):c.2111G>A (p.Arg704Gln) rs139732381 0.00002
NM_005076.5(CNTN2):c.216-9C>T rs577845981 0.00002
NM_005076.5(CNTN2):c.2545-20G>T rs749089664 0.00002
NM_005076.5(CNTN2):c.2736G>A (p.Pro912=) rs746965528 0.00002
NM_005076.5(CNTN2):c.2845-5C>T rs1239961379 0.00002
NM_005076.5(CNTN2):c.2879C>T (p.Thr960Met) rs752800918 0.00002
NM_005076.5(CNTN2):c.391+11C>T rs750562954 0.00002
NM_005076.5(CNTN2):c.392-14G>T rs148381903 0.00002
NM_005076.5(CNTN2):c.552C>T (p.Phe184=) rs777614226 0.00002
NM_005076.5(CNTN2):c.70+16T>A rs1212916132 0.00002
NM_005076.5(CNTN2):c.71-6C>T rs749400715 0.00002
NM_005076.5(CNTN2):c.1035T>C (p.Arg345=) rs373583007 0.00001
NM_005076.5(CNTN2):c.1053C>T (p.Ala351=) rs140963950 0.00001
NM_005076.5(CNTN2):c.1071A>T (p.Thr357=) rs1340324829 0.00001
NM_005076.5(CNTN2):c.1111-11C>T rs765974056 0.00001
NM_005076.5(CNTN2):c.1125G>A (p.Val375=) rs758300776 0.00001
NM_005076.5(CNTN2):c.1173C>A (p.Gly391=) rs370344142 0.00001
NM_005076.5(CNTN2):c.1240+8G>A rs773641285 0.00001
NM_005076.5(CNTN2):c.1293C>T (p.Ala431=) rs1173989105 0.00001
NM_005076.5(CNTN2):c.1296C>T (p.Arg432=) rs781749087 0.00001
NM_005076.5(CNTN2):c.1347G>A (p.Val449=) rs781410852 0.00001
NM_005076.5(CNTN2):c.1391+13C>T rs761450268 0.00001
NM_005076.5(CNTN2):c.1391+15C>T rs569433119 0.00001
NM_005076.5(CNTN2):c.1554C>T (p.Ala518=) rs769684489 0.00001
NM_005076.5(CNTN2):c.1578G>A (p.Leu526=) rs998708044 0.00001
NM_005076.5(CNTN2):c.1695+7C>T rs1433018634 0.00001
NM_005076.5(CNTN2):c.1878C>A (p.Leu626=) rs1486789598 0.00001
NM_005076.5(CNTN2):c.1980T>C (p.Pro660=) rs760622164 0.00001
NM_005076.5(CNTN2):c.198C>T (p.Ser66=) rs1653745328 0.00001
NM_005076.5(CNTN2):c.2019G>T (p.Leu673=) rs776431413 0.00001
NM_005076.5(CNTN2):c.2154C>T (p.Ser718=) rs1177695422 0.00001
NM_005076.5(CNTN2):c.216-15T>G rs780295997 0.00001
NM_005076.5(CNTN2):c.2163T>C (p.Gly721=) rs756031843 0.00001
NM_005076.5(CNTN2):c.2232C>T (p.Phe744=) rs866464813 0.00001
NM_005076.5(CNTN2):c.2280C>T (p.Thr760=) rs767244012 0.00001
NM_005076.5(CNTN2):c.2431+12C>G rs1436970258 0.00001
NM_005076.5(CNTN2):c.2432-6C>T rs766760353 0.00001
NM_005076.5(CNTN2):c.2432-8G>T rs374180490 0.00001
NM_005076.5(CNTN2):c.2490C>T (p.Asn830=) rs776333018 0.00001
NM_005076.5(CNTN2):c.2505C>T (p.Pro835=) rs1279325074 0.00001
NM_005076.5(CNTN2):c.2544+15G>A rs1451392241 0.00001
NM_005076.5(CNTN2):c.2545-9C>T rs766586200 0.00001
NM_005076.5(CNTN2):c.2661C>T (p.Thr887=) rs769988245 0.00001
NM_005076.5(CNTN2):c.2712C>T (p.Asn904=) rs1339606709 0.00001
NM_005076.5(CNTN2):c.2731+16T>C rs749504685 0.00001
NM_005076.5(CNTN2):c.3001G>A (p.Val1001Met) rs369729930 0.00001
NM_005076.5(CNTN2):c.3009T>C (p.Asn1003=) rs757390584 0.00001
NM_005076.5(CNTN2):c.3069C>T (p.Thr1023=) rs756612071 0.00001
NM_005076.5(CNTN2):c.3090G>A (p.Ala1030=) rs772810010 0.00001
NM_005076.5(CNTN2):c.3114G>A (p.Leu1038=) rs946694379 0.00001
NM_005076.5(CNTN2):c.3122G>A (p.Ter1041=) rs1654722229 0.00001
NM_005076.5(CNTN2):c.391+9C>T rs531062186 0.00001
NM_005076.5(CNTN2):c.423C>T (p.Asp141=) rs774281069 0.00001
NM_005076.5(CNTN2):c.468C>T (p.Asn156=) rs1395072638 0.00001
NM_005076.5(CNTN2):c.576G>A (p.Leu192=) rs1232729829 0.00001
NM_005076.5(CNTN2):c.594T>C (p.Asn198=) rs143234717 0.00001
NM_005076.5(CNTN2):c.657C>T (p.Ser219=) rs752354425 0.00001
NM_005076.5(CNTN2):c.71-19G>A rs762328579 0.00001
NM_005076.5(CNTN2):c.765G>A (p.Gln255=) rs1318994065 0.00001
NM_005076.5(CNTN2):c.885C>T (p.Ser295=) rs765220880 0.00001
NM_005076.5(CNTN2):c.974-4A>G rs1653998862 0.00001
NM_005076.5(CNTN2):c.1001C>T (p.Ser334Leu)
NM_005076.5(CNTN2):c.102C>T (p.Thr34=)
NM_005076.5(CNTN2):c.1065G>A (p.Arg355=)
NM_005076.5(CNTN2):c.1083G>A (p.Leu361=)
NM_005076.5(CNTN2):c.1111-11C>G rs765974056
NM_005076.5(CNTN2):c.1111-14G>A
NM_005076.5(CNTN2):c.1111-14del
NM_005076.5(CNTN2):c.1111-4A>G rs1221890068
NM_005076.5(CNTN2):c.1111-5C>T
NM_005076.5(CNTN2):c.1111-6G>A
NM_005076.5(CNTN2):c.1111-6G>C
NM_005076.5(CNTN2):c.1111-7T>C
NM_005076.5(CNTN2):c.1137C>T (p.Asp379=) rs1054922120
NM_005076.5(CNTN2):c.1170G>A (p.Ser390=)
NM_005076.5(CNTN2):c.1197T>C (p.Asn399=)
NM_005076.5(CNTN2):c.1203C>T (p.His401=)
NM_005076.5(CNTN2):c.1224C>T (p.Ala408=) rs374199117
NM_005076.5(CNTN2):c.123C>T (p.Asp41=) rs2151189002
NM_005076.5(CNTN2):c.1240+15G>A
NM_005076.5(CNTN2):c.1241-14C>T
NM_005076.5(CNTN2):c.1269C>T (p.Pro423=)
NM_005076.5(CNTN2):c.1299G>C (p.Gly433=)
NM_005076.5(CNTN2):c.1308C>A (p.Ile436=)
NM_005076.5(CNTN2):c.1353C>T (p.Leu451=)
NM_005076.5(CNTN2):c.1359C>T (p.Ser453=) rs746391581
NM_005076.5(CNTN2):c.135T>C (p.Ser45=)
NM_005076.5(CNTN2):c.1377G>A (p.Leu459=)
NM_005076.5(CNTN2):c.1391+13C>A
NM_005076.5(CNTN2):c.1391+14C>A rs2151194296
NM_005076.5(CNTN2):c.1391+18C>T
NM_005076.5(CNTN2):c.1391+20C>G
NM_005076.5(CNTN2):c.1392-12T>A
NM_005076.5(CNTN2):c.1392-14T>C
NM_005076.5(CNTN2):c.1392-20C>T
NM_005076.5(CNTN2):c.1392-5C>T
NM_005076.5(CNTN2):c.141A>C (p.Leu47=)
NM_005076.5(CNTN2):c.1458C>T (p.Tyr486=)
NM_005076.5(CNTN2):c.1461C>G (p.Thr487=)
NM_005076.5(CNTN2):c.1507C>T (p.Leu503=) rs766723952
NM_005076.5(CNTN2):c.1519+14T>C
NM_005076.5(CNTN2):c.1519+15G>A
NM_005076.5(CNTN2):c.1519+18G>T
NM_005076.5(CNTN2):c.1519+7G>A rs1346328506
NM_005076.5(CNTN2):c.1520-14G>T rs756912706
NM_005076.5(CNTN2):c.1520-17C>T rs1302100288
NM_005076.5(CNTN2):c.1542C>T (p.Ala514=) rs1222050124
NM_005076.5(CNTN2):c.1545C>A (p.Pro515=)
NM_005076.5(CNTN2):c.1596C>T (p.Ala532=) rs1003669995
NM_005076.5(CNTN2):c.1617C>T (p.Asp539=)
NM_005076.5(CNTN2):c.1629C>G (p.Thr543=)
NM_005076.5(CNTN2):c.1638G>A (p.Leu546=)
NM_005076.5(CNTN2):c.1647C>T (p.Phe549=)
NM_005076.5(CNTN2):c.1677C>T (p.His559=) rs770974958
NM_005076.5(CNTN2):c.1680C>T (p.Tyr560=)
NM_005076.5(CNTN2):c.1695+20C>G
NM_005076.5(CNTN2):c.1695+8C>G
NM_005076.5(CNTN2):c.1696-10C>A
NM_005076.5(CNTN2):c.1696-15T>C
NM_005076.5(CNTN2):c.1696-9C>T
NM_005076.5(CNTN2):c.172T>C (p.Leu58=)
NM_005076.5(CNTN2):c.1746G>C (p.Gly582=)
NM_005076.5(CNTN2):c.1785C>T (p.Ser595=) rs374726965
NM_005076.5(CNTN2):c.1786G>A (p.Ala596Thr) rs556646437
NM_005076.5(CNTN2):c.1800C>A (p.Ala600=)
NM_005076.5(CNTN2):c.1816+13C>T
NM_005076.5(CNTN2):c.1816+15A>C rs1654266364
NM_005076.5(CNTN2):c.1816+8G>A
NM_005076.5(CNTN2):c.1817-14A>G
NM_005076.5(CNTN2):c.1848G>A (p.Val616=)
NM_005076.5(CNTN2):c.1872C>G (p.Ile624Met) rs202153875
NM_005076.5(CNTN2):c.1926C>T (p.Thr642=) rs747563076
NM_005076.5(CNTN2):c.1962G>A (p.Lys654=)
NM_005076.5(CNTN2):c.1965G>A (p.Gln655=) rs768447366
NM_005076.5(CNTN2):c.1975+10A>G rs773175563
NM_005076.5(CNTN2):c.1975+13C>T
NM_005076.5(CNTN2):c.1975+15C>T
NM_005076.5(CNTN2):c.1975+7G>T rs1654305122
NM_005076.5(CNTN2):c.1976-15C>T rs2151196512
NM_005076.5(CNTN2):c.1989C>A (p.Ile663=)
NM_005076.5(CNTN2):c.1989C>T (p.Ile663=)
NM_005076.5(CNTN2):c.2025C>A (p.Leu675=) rs1340029424
NM_005076.5(CNTN2):c.2052G>A (p.Arg684=)
NM_005076.5(CNTN2):c.2064C>T (p.Ser688=)
NM_005076.5(CNTN2):c.2079T>C (p.Thr693=) rs2151196632
NM_005076.5(CNTN2):c.2125+10C>T rs1301103369
NM_005076.5(CNTN2):c.2125+12G>A
NM_005076.5(CNTN2):c.2126-12G>T
NM_005076.5(CNTN2):c.2126-16C>A rs202038605
NM_005076.5(CNTN2):c.2130C>T (p.Pro710=) rs1009461344
NM_005076.5(CNTN2):c.2136G>A (p.Val712=)
NM_005076.5(CNTN2):c.215+11T>G
NM_005076.5(CNTN2):c.215+20T>G
NM_005076.5(CNTN2):c.216-18C>T
NM_005076.5(CNTN2):c.216-19C>T
NM_005076.5(CNTN2):c.2184C>T (p.Ile728=)
NM_005076.5(CNTN2):c.2196+7T>G rs1654476200
NM_005076.5(CNTN2):c.2197-7C>T
NM_005076.5(CNTN2):c.2197-9G>C
NM_005076.5(CNTN2):c.222G>A (p.Lys74=)
NM_005076.5(CNTN2):c.2241G>A (p.Leu747=)
NM_005076.5(CNTN2):c.2304C>T (p.Ala768=)
NM_005076.5(CNTN2):c.2349C>T (p.Pro783=)
NM_005076.5(CNTN2):c.234C>T (p.Thr78=)
NM_005076.5(CNTN2):c.2394C>T (p.Pro798=)
NM_005076.5(CNTN2):c.2412C>T (p.Leu804=) rs753589096
NM_005076.5(CNTN2):c.2431+18_2431+19insA
NM_005076.5(CNTN2):c.2432-19A>T
NM_005076.5(CNTN2):c.2445C>G (p.Ala815=)
NM_005076.5(CNTN2):c.2448T>C (p.Pro816=)
NM_005076.5(CNTN2):c.2496C>T (p.Thr832=)
NM_005076.5(CNTN2):c.2517C>T (p.Asp839=) rs1654538290
NM_005076.5(CNTN2):c.2544+14T>G
NM_005076.5(CNTN2):c.2544+20T>G
NM_005076.5(CNTN2):c.2544+9C>T
NM_005076.5(CNTN2):c.2545-10C>T
NM_005076.5(CNTN2):c.2545-11G>A
NM_005076.5(CNTN2):c.2545-16C>T rs2151199908
NM_005076.5(CNTN2):c.2545-20G>C rs749089664
NM_005076.5(CNTN2):c.2548C>T (p.Arg850Cys)
NM_005076.5(CNTN2):c.2550C>G (p.Arg850=)
NM_005076.5(CNTN2):c.2577A>G (p.Ala859=)
NM_005076.5(CNTN2):c.2589A>G (p.Arg863=) rs1452001260
NM_005076.5(CNTN2):c.2673C>T (p.Tyr891=)
NM_005076.5(CNTN2):c.2676C>T (p.Asn892=)
NM_005076.5(CNTN2):c.2683G>A (p.Gly895Ser)
NM_005076.5(CNTN2):c.2715C>T (p.Ala905=)
NM_005076.5(CNTN2):c.2718G>A (p.Thr906=)
NM_005076.5(CNTN2):c.2718G>T (p.Thr906=)
NM_005076.5(CNTN2):c.2721C>T (p.Thr907=)
NM_005076.5(CNTN2):c.2732-12C>T
NM_005076.5(CNTN2):c.273G>C (p.Val91=)
NM_005076.5(CNTN2):c.273G>T (p.Val91=)
NM_005076.5(CNTN2):c.2778T>C (p.Ser926=)
NM_005076.5(CNTN2):c.2784T>C (p.Leu928=) rs1354778874
NM_005076.5(CNTN2):c.2811T>C (p.Pro937=)
NM_005076.5(CNTN2):c.2835C>A (p.Thr945=)
NM_005076.5(CNTN2):c.283C>T (p.Leu95=) rs2151189280
NM_005076.5(CNTN2):c.2892C>T (p.Thr964=)
NM_005076.5(CNTN2):c.2967C>T (p.Pro989=)
NM_005076.5(CNTN2):c.2979G>A (p.Gly993=)
NM_005076.5(CNTN2):c.2988A>G (p.Ala996=)
NM_005076.5(CNTN2):c.3000C>A (p.Ile1000=) rs947096199
NM_005076.5(CNTN2):c.3000C>T (p.Ile1000=)
NM_005076.5(CNTN2):c.3013+14C>T rs2151200888
NM_005076.5(CNTN2):c.3013+15C>T
NM_005076.5(CNTN2):c.3013+17A>G
NM_005076.5(CNTN2):c.3013+19C>G
NM_005076.5(CNTN2):c.3014-13G>C
NM_005076.5(CNTN2):c.3014-17G>A
NM_005076.5(CNTN2):c.3042A>T (p.Ala1014=)
NM_005076.5(CNTN2):c.306G>A (p.Lys102=)
NM_005076.5(CNTN2):c.3072C>T (p.Val1024=) rs2151201250
NM_005076.5(CNTN2):c.3081C>T (p.His1027=)
NM_005076.5(CNTN2):c.3087G>C (p.Val1029=) rs747629348
NM_005076.5(CNTN2):c.3099C>T (p.Ile1033=) rs368955126
NM_005076.5(CNTN2):c.3108C>T (p.Gly1036=)
NM_005076.5(CNTN2):c.318C>G (p.Ala106=) rs372422500
NM_005076.5(CNTN2):c.342C>T (p.Ser114=)
NM_005076.5(CNTN2):c.369G>A (p.Arg123=)
NM_005076.5(CNTN2):c.387C>T (p.Phe129=)
NM_005076.5(CNTN2):c.391+18C>T
NM_005076.5(CNTN2):c.391+7C>G
NM_005076.5(CNTN2):c.391+8C>G
NM_005076.5(CNTN2):c.392-19C>T rs2151189586
NM_005076.5(CNTN2):c.394C>T (p.Leu132=) rs2151189605
NM_005076.5(CNTN2):c.39G>A (p.Leu13=) rs1375494353
NM_005076.5(CNTN2):c.487+12C>G
NM_005076.5(CNTN2):c.487+20C>T
NM_005076.5(CNTN2):c.488-17A>C rs747845333
NM_005076.5(CNTN2):c.488-4C>T
NM_005076.5(CNTN2):c.51G>A (p.Val17=) rs2151185969
NM_005076.5(CNTN2):c.528C>T (p.Phe176=) rs952476278
NM_005076.5(CNTN2):c.534G>C (p.Pro178=) rs151020999
NM_005076.5(CNTN2):c.540C>T (p.Asp180=)
NM_005076.5(CNTN2):c.543G>C (p.Gly181=) rs145237574
NM_005076.5(CNTN2):c.555G>C (p.Val185=) rs2151190097
NM_005076.5(CNTN2):c.57T>C (p.Leu19=)
NM_005076.5(CNTN2):c.591C>A (p.Thr197=)
NM_005076.5(CNTN2):c.615C>T (p.Tyr205=)
NM_005076.5(CNTN2):c.618C>G (p.Ser206=) rs1653833334
NM_005076.5(CNTN2):c.636C>T (p.His212=)
NM_005076.5(CNTN2):c.690T>C (p.Ala230=) rs1182147073
NM_005076.5(CNTN2):c.697+11G>A
NM_005076.5(CNTN2):c.697+18G>A rs872379
NM_005076.5(CNTN2):c.698-13C>A
NM_005076.5(CNTN2):c.698-14C>T
NM_005076.5(CNTN2):c.70+8G>A
NM_005076.5(CNTN2):c.71-19G>T rs762328579
NM_005076.5(CNTN2):c.71-6C>A
NM_005076.5(CNTN2):c.71-7C>T rs2151188960
NM_005076.5(CNTN2):c.744G>A (p.Glu248=)
NM_005076.5(CNTN2):c.756G>A (p.Leu252=)
NM_005076.5(CNTN2):c.762G>C (p.Gly254=) rs1653864841
NM_005076.5(CNTN2):c.777G>A (p.Leu259=)
NM_005076.5(CNTN2):c.792T>C (p.Phe264=)
NM_005076.5(CNTN2):c.797+14G>A
NM_005076.5(CNTN2):c.797+15G>A
NM_005076.5(CNTN2):c.797+18G>A
NM_005076.5(CNTN2):c.798-6T>C
NM_005076.5(CNTN2):c.816G>A (p.Lys272=)
NM_005076.5(CNTN2):c.855C>A (p.Thr285=)
NM_005076.5(CNTN2):c.900T>C (p.Asp300=)
NM_005076.5(CNTN2):c.948C>A (p.Thr316=) rs542983417
NM_005076.5(CNTN2):c.948C>T (p.Thr316=)
NM_005076.5(CNTN2):c.973+13G>C rs2151192001
NM_005076.5(CNTN2):c.974-13C>T
NM_005076.5(CNTN2):c.99C>T (p.Thr33=)

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.