ClinVar Miner

List of variants reported as uncertain significance for Epilepsy, familial adult myoclonic, 5

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 331
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HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr) rs147693556 0.00148
NM_005076.5(CNTN2):c.1695G>A (p.Val565=) rs148801784 0.00066
NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile) rs116647440 0.00047
NM_005076.5(CNTN2):c.214C>T (p.Arg72Trp) rs149564430 0.00034
NM_005076.5(CNTN2):c.2544+3G>A rs372920039 0.00025
NM_005076.5(CNTN2):c.1706T>C (p.Ile569Thr) rs372229713 0.00019
NM_005076.5(CNTN2):c.3013+6G>C rs781436489 0.00017
NM_005076.5(CNTN2):c.1820C>T (p.Pro607Leu) rs140570612 0.00016
NM_005076.5(CNTN2):c.2677C>T (p.Arg893Trp) rs149814483 0.00014
NM_005076.5(CNTN2):c.1411G>A (p.Gly471Ser) rs191357187 0.00013
NM_005076.5(CNTN2):c.1295G>A (p.Arg432His) rs200098924 0.00011
NM_005076.5(CNTN2):c.1367C>T (p.Thr456Met) rs770143299 0.00011
NM_005076.5(CNTN2):c.2629G>A (p.Gly877Ser) rs146145490 0.00011
NM_005076.5(CNTN2):c.821G>A (p.Arg274His) rs200893856 0.00011
NM_005076.5(CNTN2):c.2464A>C (p.Lys822Gln) rs141428194 0.00009
NM_005076.5(CNTN2):c.424C>T (p.Pro142Ser) rs143259493 0.00009
NM_005076.5(CNTN2):c.1216G>A (p.Ala406Thr) rs752262787 0.00007
NM_005076.5(CNTN2):c.731G>A (p.Arg244Gln) rs774885705 0.00007
NM_005076.5(CNTN2):c.1316C>A (p.Pro439His) rs761643020 0.00006
NM_005076.5(CNTN2):c.1397C>T (p.Thr466Ile) rs145344980 0.00006
NM_005076.5(CNTN2):c.1655A>G (p.Asp552Gly) rs375531151 0.00006
NM_005076.5(CNTN2):c.1739G>A (p.Arg580His) rs200242849 0.00006
NM_005076.5(CNTN2):c.1787C>T (p.Ala596Val) rs578081549 0.00006
NM_005076.5(CNTN2):c.1986C>A (p.Asn662Lys) rs140020952 0.00006
NM_005076.5(CNTN2):c.388G>A (p.Gly130Ser) rs368353579 0.00006
NM_005076.5(CNTN2):c.1572C>A (p.Asp524Glu) rs148062265 0.00005
NM_005076.5(CNTN2):c.1676A>G (p.His559Arg) rs747131553 0.00005
NM_005076.5(CNTN2):c.1915G>A (p.Ala639Thr) rs562711151 0.00005
NM_005076.5(CNTN2):c.2228G>C (p.Gly743Ala) rs746291684 0.00005
NM_005076.5(CNTN2):c.235G>A (p.Glu79Lys) rs377098737 0.00005
NM_005076.5(CNTN2):c.2686A>T (p.Thr896Ser) rs201649365 0.00005
NM_005076.5(CNTN2):c.2711A>G (p.Asn904Ser) rs149058423 0.00005
NM_005076.5(CNTN2):c.2741G>A (p.Arg914Gln) rs373583840 0.00005
NM_005076.5(CNTN2):c.967G>A (p.Val323Met) rs369483636 0.00005
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser) rs371816961 0.00004
NM_005076.5(CNTN2):c.1147T>C (p.Ser383Pro) rs377487667 0.00004
NM_005076.5(CNTN2):c.1226A>T (p.Glu409Val) rs749341276 0.00004
NM_005076.5(CNTN2):c.1315C>G (p.Pro439Ala) rs369127731 0.00004
NM_005076.5(CNTN2):c.1324C>A (p.Pro442Thr) rs371470696 0.00004
NM_005076.5(CNTN2):c.1425A>G (p.Ile475Met) rs149065585 0.00004
NM_005076.5(CNTN2):c.185G>A (p.Arg62His) rs772280387 0.00004
NM_005076.5(CNTN2):c.191G>A (p.Arg64Gln) rs199539011 0.00004
NM_005076.5(CNTN2):c.215G>A (p.Arg72Gln) rs145070278 0.00004
NM_005076.5(CNTN2):c.2196+5G>A rs747164379 0.00004
NM_005076.5(CNTN2):c.2614A>C (p.Ser872Arg) rs1040215071 0.00004
NM_005076.5(CNTN2):c.271G>A (p.Val91Met) rs756428097 0.00004
NM_005076.5(CNTN2):c.2893G>A (p.Gly965Ser) rs558282228 0.00004
NM_005076.5(CNTN2):c.536C>T (p.Thr179Met) rs376459307 0.00004
NM_005076.5(CNTN2):c.689C>T (p.Ala230Val) rs138454536 0.00004
NM_005076.5(CNTN2):c.1034G>A (p.Arg345His) rs752079019 0.00003
NM_005076.5(CNTN2):c.1294C>T (p.Arg432Cys) rs531063248 0.00003
NM_005076.5(CNTN2):c.1441T>C (p.Ser481Pro) rs1362090710 0.00003
NM_005076.5(CNTN2):c.169G>A (p.Val57Met) rs374208965 0.00003
NM_005076.5(CNTN2):c.1751A>G (p.Lys584Arg) rs371269837 0.00003
NM_005076.5(CNTN2):c.1936C>T (p.Arg646Cys) rs771294491 0.00003
NM_005076.5(CNTN2):c.215+6G>C rs370377460 0.00003
NM_005076.5(CNTN2):c.2902T>C (p.Trp968Arg) rs770455192 0.00003
NM_005076.5(CNTN2):c.3047G>A (p.Arg1016His) rs554176359 0.00003
NM_005076.5(CNTN2):c.3089C>T (p.Ala1030Val) rs771548059 0.00003
NM_005076.5(CNTN2):c.3110C>T (p.Ser1037Phe) rs372411999 0.00003
NM_005076.5(CNTN2):c.500G>A (p.Arg167His) rs773067015 0.00003
NM_005076.5(CNTN2):c.923C>T (p.Ala308Val) rs370834023 0.00003
NM_005076.5(CNTN2):c.1033C>T (p.Arg345Cys) rs764472036 0.00002
NM_005076.5(CNTN2):c.134G>A (p.Ser45Asn) rs779928603 0.00002
NM_005076.5(CNTN2):c.1438C>T (p.Arg480Trp) rs200089665 0.00002
NM_005076.5(CNTN2):c.1439G>A (p.Arg480Gln) rs538046968 0.00002
NM_005076.5(CNTN2):c.1517G>A (p.Arg506Gln) rs561892323 0.00002
NM_005076.5(CNTN2):c.2002G>A (p.Glu668Lys) rs751783360 0.00002
NM_005076.5(CNTN2):c.2050C>T (p.Arg684Trp) rs756558390 0.00002
NM_005076.5(CNTN2):c.2111G>A (p.Arg704Gln) rs139732381 0.00002
NM_005076.5(CNTN2):c.2201T>C (p.Met734Thr) rs749174452 0.00002
NM_005076.5(CNTN2):c.2380C>T (p.Arg794Cys) rs771474325 0.00002
NM_005076.5(CNTN2):c.2474C>T (p.Ser825Leu) rs965462537 0.00002
NM_005076.5(CNTN2):c.2549G>A (p.Arg850His) rs548681626 0.00002
NM_005076.5(CNTN2):c.2713G>A (p.Ala905Thr) rs778395637 0.00002
NM_005076.5(CNTN2):c.3038T>C (p.Met1013Thr) rs909612337 0.00002
NM_005076.5(CNTN2):c.3092T>C (p.Met1031Thr) rs1401995560 0.00002
NM_005076.5(CNTN2):c.3117G>T (p.Glu1039Asp) rs1232718150 0.00002
NM_005076.5(CNTN2):c.358G>A (p.Val120Ile) rs1424524492 0.00002
NM_005076.5(CNTN2):c.419G>A (p.Arg140Gln) rs768629152 0.00002
NM_005076.5(CNTN2):c.808C>T (p.Arg270Trp) rs781526005 0.00002
NM_005076.5(CNTN2):c.845C>T (p.Pro282Leu) rs778415451 0.00002
NM_005076.5(CNTN2):c.850T>C (p.Trp284Arg) rs1340726271 0.00002
NM_005076.5(CNTN2):c.854C>T (p.Thr285Ile) rs772963027 0.00002
NM_005076.5(CNTN2):c.958C>T (p.Arg320Cys) rs759368493 0.00002
NM_005076.5(CNTN2):c.1028A>G (p.Asn343Ser) rs758929116 0.00001
NM_005076.5(CNTN2):c.1076G>A (p.Arg359His) rs141879956 0.00001
NM_005076.5(CNTN2):c.1115G>A (p.Arg372Gln) rs1223229519 0.00001
NM_005076.5(CNTN2):c.1141C>T (p.Arg381Trp) rs558556897 0.00001
NM_005076.5(CNTN2):c.1142G>A (p.Arg381Gln) rs749478140 0.00001
NM_005076.5(CNTN2):c.1174A>G (p.Met392Val) rs1654045217 0.00001
NM_005076.5(CNTN2):c.1192G>C (p.Glu398Gln) rs761256115 0.00001
NM_005076.5(CNTN2):c.1225G>A (p.Glu409Lys) rs1332074487 0.00001
NM_005076.5(CNTN2):c.1238A>G (p.Gln413Arg) rs558496903 0.00001
NM_005076.5(CNTN2):c.1277G>A (p.Arg426His) rs143340514 0.00001
NM_005076.5(CNTN2):c.1289C>T (p.Ala430Val) rs145944891 0.00001
NM_005076.5(CNTN2):c.1302A>T (p.Gly434=) rs1346381795 0.00001
NM_005076.5(CNTN2):c.1345G>A (p.Val449Met) rs553631482 0.00001
NM_005076.5(CNTN2):c.1481T>C (p.Met494Thr) rs1654184527 0.00001
NM_005076.5(CNTN2):c.1495A>G (p.Ser499Gly) rs1040227835 0.00001
NM_005076.5(CNTN2):c.1555G>A (p.Asp519Asn) rs779907671 0.00001
NM_005076.5(CNTN2):c.1567G>A (p.Gly523Ser) rs1168168259 0.00001
NM_005076.5(CNTN2):c.158C>T (p.Thr53Met) rs369804751 0.00001
NM_005076.5(CNTN2):c.1743T>G (p.His581Gln) rs1446657575 0.00001
NM_005076.5(CNTN2):c.1814G>A (p.Arg605Gln) rs762910235 0.00001
NM_005076.5(CNTN2):c.184C>T (p.Arg62Cys) rs763492479 0.00001
NM_005076.5(CNTN2):c.1856T>C (p.Ile619Thr) rs748659639 0.00001
NM_005076.5(CNTN2):c.1970G>A (p.Arg657Gln) rs761837860 0.00001
NM_005076.5(CNTN2):c.208A>T (p.Thr70Ser) rs555512649 0.00001
NM_005076.5(CNTN2):c.2104A>G (p.Lys702Glu) rs149762176 0.00001
NM_005076.5(CNTN2):c.2110C>T (p.Arg704Trp) rs776680281 0.00001
NM_005076.5(CNTN2):c.2119G>C (p.Glu707Gln) rs1654343660 0.00001
NM_005076.5(CNTN2):c.2140C>T (p.Pro714Ser) rs374773829 0.00001
NM_005076.5(CNTN2):c.2162G>A (p.Gly721Asp) rs745808857 0.00001
NM_005076.5(CNTN2):c.2178G>C (p.Glu726Asp) rs1159334970 0.00001
NM_005076.5(CNTN2):c.2196G>T (p.Thr732=) rs1396081188 0.00001
NM_005076.5(CNTN2):c.2365C>T (p.Arg789Cys) rs1330386390 0.00001
NM_005076.5(CNTN2):c.2386G>A (p.Asp796Asn) rs1374137076 0.00001
NM_005076.5(CNTN2):c.2449A>G (p.Thr817Ala) rs1326524363 0.00001
NM_005076.5(CNTN2):c.2564G>A (p.Gly855Glu) rs1211430748 0.00001
NM_005076.5(CNTN2):c.256T>C (p.Ser86Pro) rs140567763 0.00001
NM_005076.5(CNTN2):c.2662G>A (p.Val888Met) rs775579054 0.00001
NM_005076.5(CNTN2):c.2678G>A (p.Arg893Gln) rs751913913 0.00001
NM_005076.5(CNTN2):c.2717C>T (p.Thr906Met) rs370127764 0.00001
NM_005076.5(CNTN2):c.2731+6T>A rs769776725 0.00001
NM_005076.5(CNTN2):c.2752A>G (p.Asn918Asp) rs1160114127 0.00001
NM_005076.5(CNTN2):c.2775C>G (p.Ser925Arg) rs1654649315 0.00001
NM_005076.5(CNTN2):c.3013+5T>A rs764921795 0.00001
NM_005076.5(CNTN2):c.383G>A (p.Arg128His) rs759086850 0.00001
NM_005076.5(CNTN2):c.415G>A (p.Glu139Lys) rs755814341 0.00001
NM_005076.5(CNTN2):c.514G>A (p.Glu172Lys) rs763168456 0.00001
NM_005076.5(CNTN2):c.541G>A (p.Gly181Arg) rs754696472 0.00001
NM_005076.5(CNTN2):c.545G>A (p.Arg182His) rs771397976 0.00001
NM_005076.5(CNTN2):c.587G>A (p.Arg196Gln) rs200403900 0.00001
NM_005076.5(CNTN2):c.658G>A (p.Val220Ile) rs758068126 0.00001
NM_005076.5(CNTN2):c.669G>C (p.Lys223Asn) rs549298351 0.00001
NM_005076.5(CNTN2):c.730C>T (p.Arg244Trp) rs746384894 0.00001
NM_005076.5(CNTN2):c.740C>G (p.Ala247Gly) rs763480683 0.00001
NM_005076.5(CNTN2):c.792T>G (p.Phe264Leu) rs183799891 0.00001
NM_005076.5(CNTN2):c.886G>A (p.Val296Ile) rs1187198906 0.00001
NM_005076.5(CNTN2):c.949G>A (p.Val317Met) rs374463835 0.00001
NM_005076.5(CNTN2):c.959G>A (p.Arg320His) rs769682523 0.00001
NM_005076.5(CNTN2):c.973+5A>G rs1224395695 0.00001
NC_000001.10:g.(?_200522516)_(206945780_?)dup
NM_005076.5(CNTN2):c.1007C>T (p.Thr336Ile) rs2151192330
NM_005076.5(CNTN2):c.1018A>G (p.Ile340Val) rs2151192340
NM_005076.5(CNTN2):c.1063C>T (p.Arg355Trp)
NM_005076.5(CNTN2):c.1064G>A (p.Arg355Gln)
NM_005076.5(CNTN2):c.1071A>G (p.Thr357=) rs1340324829
NM_005076.5(CNTN2):c.1072G>T (p.Val358Leu)
NM_005076.5(CNTN2):c.1129G>T (p.Ala377Ser) rs2151192775
NM_005076.5(CNTN2):c.1138C>G (p.Leu380Val) rs2151192794
NM_005076.5(CNTN2):c.1171G>A (p.Gly391Ser) rs1574648714
NM_005076.5(CNTN2):c.1222G>A (p.Ala408Thr) rs1654048341
NM_005076.5(CNTN2):c.1241C>T (p.Ala414Val) rs1654151236
NM_005076.5(CNTN2):c.1268C>T (p.Pro423Leu)
NM_005076.5(CNTN2):c.1286C>T (p.Pro429Leu)
NM_005076.5(CNTN2):c.1288G>A (p.Ala430Thr) rs1444735689
NM_005076.5(CNTN2):c.1291G>A (p.Ala431Thr)
NM_005076.5(CNTN2):c.1292C>G (p.Ala431Gly) rs2151194175
NM_005076.5(CNTN2):c.1294C>A (p.Arg432Ser)
NM_005076.5(CNTN2):c.1297G>A (p.Gly433Arg) rs571201763
NM_005076.5(CNTN2):c.1331C>T (p.Ala444Val) rs2151194250
NM_005076.5(CNTN2):c.1359C>G (p.Ser453Arg)
NM_005076.5(CNTN2):c.1391+5C>T
NM_005076.5(CNTN2):c.1405C>T (p.Pro469Ser) rs147693556
NM_005076.5(CNTN2):c.1414A>T (p.Thr472Ser) rs1654180576
NM_005076.5(CNTN2):c.1415C>A (p.Thr472Asn) rs201092596
NM_005076.5(CNTN2):c.1420A>G (p.Ile474Val)
NM_005076.5(CNTN2):c.1494C>G (p.Asn498Lys)
NM_005076.5(CNTN2):c.1507C>G (p.Leu503Val) rs766723952
NM_005076.5(CNTN2):c.1516C>G (p.Arg506Gly)
NM_005076.5(CNTN2):c.1519+3G>C
NM_005076.5(CNTN2):c.1519+5G>A
NM_005076.5(CNTN2):c.1519G>A (p.Asp507Asn) rs2151194531
NM_005076.5(CNTN2):c.1523C>G (p.Ala508Gly) rs2151194777
NM_005076.5(CNTN2):c.1526C>T (p.Thr509Ile)
NM_005076.5(CNTN2):c.1575C>T (p.Asn525=)
NM_005076.5(CNTN2):c.1609A>G (p.Thr537Ala)
NM_005076.5(CNTN2):c.1613T>C (p.Met538Thr)
NM_005076.5(CNTN2):c.1642G>A (p.Asp548Asn) rs763451598
NM_005076.5(CNTN2):c.1647C>A (p.Phe549Leu) rs2151194902
NM_005076.5(CNTN2):c.1682G>A (p.Arg561Gln)
NM_005076.5(CNTN2):c.1693G>A (p.Val565Met)
NM_005076.5(CNTN2):c.1695+3G>A
NM_005076.5(CNTN2):c.1708G>T (p.Gly570Trp) rs1654255048
NM_005076.5(CNTN2):c.1724T>A (p.Leu575Gln)
NM_005076.5(CNTN2):c.1735C>G (p.Leu579Val)
NM_005076.5(CNTN2):c.1739G>T (p.Arg580Leu) rs200242849
NM_005076.5(CNTN2):c.1790C>T (p.Ser597Phe) rs1654262980
NM_005076.5(CNTN2):c.1798G>A (p.Ala600Thr)
NM_005076.5(CNTN2):c.179C>T (p.Ala60Val)
NM_005076.5(CNTN2):c.1829C>T (p.Pro610Leu)
NM_005076.5(CNTN2):c.1837G>A (p.Gly613Ser) rs1654294617
NM_005076.5(CNTN2):c.1840G>T (p.Val614Leu) rs2151195932
NM_005076.5(CNTN2):c.1861G>A (p.Asp621Asn) rs140285037
NM_005076.5(CNTN2):c.1870A>G (p.Ile624Val)
NM_005076.5(CNTN2):c.187G>A (p.Ala63Thr)
NM_005076.5(CNTN2):c.1888C>A (p.Arg630Ser) rs574231253
NM_005076.5(CNTN2):c.1888C>T (p.Arg630Cys) rs574231253
NM_005076.5(CNTN2):c.188C>A (p.Ala63Asp)
NM_005076.5(CNTN2):c.1907G>A (p.Ser636Asn)
NM_005076.5(CNTN2):c.190C>T (p.Arg64Trp)
NM_005076.5(CNTN2):c.1913T>C (p.Ile638Thr) rs2151196049
NM_005076.5(CNTN2):c.1919A>C (p.Lys640Thr)
NM_005076.5(CNTN2):c.1921T>A (p.Tyr641Asn) rs2151196059
NM_005076.5(CNTN2):c.1937G>A (p.Arg646His) rs780787184
NM_005076.5(CNTN2):c.1942C>G (p.Pro648Ala)
NM_005076.5(CNTN2):c.1949C>T (p.Ala650Val) rs1398781322
NM_005076.5(CNTN2):c.1963C>G (p.Gln655Glu) rs1262628184
NM_005076.5(CNTN2):c.1964A>G (p.Gln655Arg)
NM_005076.5(CNTN2):c.1975+10A>G rs773175563
NM_005076.5(CNTN2):c.1976-7C>G rs773089407
NM_005076.5(CNTN2):c.1976A>T (p.Asn659Ile)
NM_005076.5(CNTN2):c.1987A>G (p.Ile663Val)
NM_005076.5(CNTN2):c.2026A>G (p.Thr676Ala) rs1574655799
NM_005076.5(CNTN2):c.2032T>A (p.Trp678Arg) rs1553347245
NM_005076.5(CNTN2):c.2040C>G (p.Asp680Glu)
NM_005076.5(CNTN2):c.2044G>C (p.Glu682Gln) rs2151196614
NM_005076.5(CNTN2):c.2051G>A (p.Arg684Gln)
NM_005076.5(CNTN2):c.2108T>A (p.Ile703Asn) rs2151196671
NM_005076.5(CNTN2):c.2126C>G (p.Ala709Gly) rs2151198136
NM_005076.5(CNTN2):c.2131T>G (p.Ser711Ala)
NM_005076.5(CNTN2):c.2149C>T (p.Leu717Phe) rs970659488
NM_005076.5(CNTN2):c.215+6G>A rs370377460
NM_005076.5(CNTN2):c.215+6G>T
NM_005076.5(CNTN2):c.215G>C (p.Arg72Pro)
NM_005076.5(CNTN2):c.2173G>A (p.Gly725Arg)
NM_005076.5(CNTN2):c.2185G>A (p.Val729Ile)
NM_005076.5(CNTN2):c.2193G>C (p.Trp731Cys) rs1553347743
NM_005076.5(CNTN2):c.2207G>A (p.Arg736Gln)
NM_005076.5(CNTN2):c.2273_2274delinsAT (p.Trp758Tyr) rs1064796187
NM_005076.5(CNTN2):c.2281G>A (p.Ala761Thr)
NM_005076.5(CNTN2):c.2285G>A (p.Arg762Gln)
NM_005076.5(CNTN2):c.2299G>A (p.Asp767Asn) rs1654500986
NM_005076.5(CNTN2):c.2302G>C (p.Ala768Pro)
NM_005076.5(CNTN2):c.2336G>A (p.Arg779Gln) rs2151198576
NM_005076.5(CNTN2):c.2356G>T (p.Val786Phe) rs780226583
NM_005076.5(CNTN2):c.240G>A (p.Met80Ile)
NM_005076.5(CNTN2):c.2431+4G>A rs2151198657
NM_005076.5(CNTN2):c.2431+5G>A rs1380526589
NM_005076.5(CNTN2):c.2483A>G (p.Glu828Gly) rs1574660291
NM_005076.5(CNTN2):c.2491G>A (p.Val831Met)
NM_005076.5(CNTN2):c.2506G>A (p.Val836Met) rs775217770
NM_005076.5(CNTN2):c.2509C>A (p.Gln837Lys)
NM_005076.5(CNTN2):c.2513A>C (p.Gln838Pro) rs1654537849
NM_005076.5(CNTN2):c.2514G>C (p.Gln838His) rs144293383
NM_005076.5(CNTN2):c.2515G>A (p.Asp839Asn)
NM_005076.5(CNTN2):c.2540A>G (p.Tyr847Cys)
NM_005076.5(CNTN2):c.260G>A (p.Arg87His)
NM_005076.5(CNTN2):c.2645C>T (p.Thr882Ile)
NM_005076.5(CNTN2):c.2655T>G (p.His885Gln) rs759745695
NM_005076.5(CNTN2):c.2660C>T (p.Thr887Ile)
NM_005076.5(CNTN2):c.2668G>A (p.Ala890Thr) rs2151200043
NM_005076.5(CNTN2):c.2685C>T (p.Gly895=) rs750919252
NM_005076.5(CNTN2):c.2688T>A (p.Thr896=) rs375780610
NM_005076.5(CNTN2):c.2696C>A (p.Ala899Asp)
NM_005076.5(CNTN2):c.2701C>T (p.Pro901Ser) rs2151200097
NM_005076.5(CNTN2):c.2731+19G>T rs2151200154
NM_005076.5(CNTN2):c.2735C>T (p.Pro912Leu) rs777653447
NM_005076.5(CNTN2):c.274G>C (p.Gly92Arg)
NM_005076.5(CNTN2):c.2750G>C (p.Gly917Ala)
NM_005076.5(CNTN2):c.2834C>A (p.Thr945Asn)
NM_005076.5(CNTN2):c.2845-3C>T
NM_005076.5(CNTN2):c.2861A>G (p.Asp954Gly) rs767209651
NM_005076.5(CNTN2):c.2886C>G (p.His962Gln) rs56111335
NM_005076.5(CNTN2):c.2905A>G (p.Ile969Val)
NM_005076.5(CNTN2):c.2923G>A (p.Glu975Lys) rs1654681238
NM_005076.5(CNTN2):c.2926G>A (p.Asp976Asn)
NM_005076.5(CNTN2):c.2933G>C (p.Gly978Ala) rs1654682070
NM_005076.5(CNTN2):c.2944G>A (p.Val982Ile) rs761355817
NM_005076.5(CNTN2):c.2954G>A (p.Arg985Gln) rs1348228431
NM_005076.5(CNTN2):c.2966C>T (p.Pro989Leu) rs1193731341
NM_005076.5(CNTN2):c.2983C>T (p.Pro995Ser) rs1654685363
NM_005076.5(CNTN2):c.298C>T (p.Pro100Ser) rs1350606305
NM_005076.5(CNTN2):c.3011G>A (p.Gly1004Glu) rs1364145938
NM_005076.5(CNTN2):c.3013+1G>A
NM_005076.5(CNTN2):c.3013+4C>G rs1654687741
NM_005076.5(CNTN2):c.3013+6_3013+8del rs752153648
NM_005076.5(CNTN2):c.3039G>A (p.Met1013Ile)
NM_005076.5(CNTN2):c.3046C>T (p.Arg1016Cys)
NM_005076.5(CNTN2):c.3050C>T (p.Pro1017Leu) rs757311639
NM_005076.5(CNTN2):c.305A>C (p.Lys102Thr) rs1359784884
NM_005076.5(CNTN2):c.3066C>T (p.Gly1022=) rs975151766
NM_005076.5(CNTN2):c.308C>T (p.Ala103Val)
NM_005076.5(CNTN2):c.3094C>G (p.Leu1032Val)
NM_005076.5(CNTN2):c.3117G>C (p.Glu1039Asp) rs1232718150
NM_005076.5(CNTN2):c.3123A>G (p.Ter1041Trp) rs2151201303
NM_005076.5(CNTN2):c.317C>G (p.Ala106Gly)
NM_005076.5(CNTN2):c.31C>G (p.Leu11Val) rs2096455937
NM_005076.5(CNTN2):c.325T>G (p.Tyr109Asp) rs1653771144
NM_005076.5(CNTN2):c.337G>C (p.Ala113Pro) rs1032446046
NM_005076.5(CNTN2):c.351G>A (p.Val117=) rs2151189366
NM_005076.5(CNTN2):c.418C>T (p.Arg140Ter)
NM_005076.5(CNTN2):c.427G>T (p.Val143Leu) rs2151189641
NM_005076.5(CNTN2):c.476C>T (p.Ala159Val) rs1653796008
NM_005076.5(CNTN2):c.478C>A (p.His160Asn) rs2151189694
NM_005076.5(CNTN2):c.479A>T (p.His160Leu) rs1327945426
NM_005076.5(CNTN2):c.49G>A (p.Val17Met) rs1290934625
NM_005076.5(CNTN2):c.533C>T (p.Pro178Leu)
NM_005076.5(CNTN2):c.537G>A (p.Thr179=)
NM_005076.5(CNTN2):c.553G>A (p.Val185Met) rs866000513
NM_005076.5(CNTN2):c.584C>T (p.Ala195Val) rs2151190134
NM_005076.5(CNTN2):c.619T>C (p.Cys207Arg) rs2151190177
NM_005076.5(CNTN2):c.635A>T (p.His212Leu) rs1558542528
NM_005076.5(CNTN2):c.654G>C (p.Lys218Asn) rs1653835996
NM_005076.5(CNTN2):c.69A>G (p.Ser23=)
NM_005076.5(CNTN2):c.723C>G (p.Ile241Met) rs1653860952
NM_005076.5(CNTN2):c.736C>A (p.Pro246Thr) rs2151190542
NM_005076.5(CNTN2):c.745A>G (p.Thr249Ala) rs1191773782
NM_005076.5(CNTN2):c.787G>A (p.Ala263Thr)
NM_005076.5(CNTN2):c.798C>T (p.Asn266=)
NM_005076.5(CNTN2):c.809G>A (p.Arg270Gln)
NM_005076.5(CNTN2):c.820C>T (p.Arg274Cys) rs1473353987
NM_005076.5(CNTN2):c.832G>A (p.Gly278Ser)
NM_005076.5(CNTN2):c.835T>A (p.Ser279Thr) rs2151191847
NM_005076.5(CNTN2):c.849G>C (p.Gln283His)
NM_005076.5(CNTN2):c.859G>A (p.Ala287Thr) rs1653966883
NM_005076.5(CNTN2):c.85C>G (p.Leu29Val)
NM_005076.5(CNTN2):c.862G>A (p.Glu288Lys)
NM_005076.5(CNTN2):c.885C>A (p.Ser295Arg)
NM_005076.5(CNTN2):c.886G>C (p.Val296Leu)
NM_005076.5(CNTN2):c.8C>A (p.Thr3Lys)
NM_005076.5(CNTN2):c.910T>C (p.Tyr304His)
NM_005076.5(CNTN2):c.913G>C (p.Glu305Gln) rs143449488
NM_005076.5(CNTN2):c.931T>C (p.Ser311Pro) rs1064794428
NM_005076.5(CNTN2):c.934A>G (p.Lys312Glu)
NM_005076.5(CNTN2):c.954G>C (p.Gln318His)
NM_005076.5(CNTN2):c.967G>C (p.Val323Leu)
NM_005076.5(CNTN2):c.974-12G>A rs201080048
NM_005076.5(CNTN2):c.992A>T (p.Lys331Ile) rs1175397570

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