ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 346
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HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.505C>T (p.Leu169Phe) rs142502980 0.00224
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=)

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