ClinVar Miner

List of variants in gene KCNC1 studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 384
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001112741.2(KCNC1):c.72G>A (p.Ser24=) rs76929858 0.03099
NM_001112741.2(KCNC1):c.1236C>T (p.Ser412=) rs73424033 0.00289
NM_001112741.2(KCNC1):c.570+19A>T rs186151622 0.00282
NM_001112741.2(KCNC1):c.1629C>T (p.Tyr543=) rs552972841 0.00255
NM_001112741.2(KCNC1):c.1017A>C (p.Arg339=) rs137989254 0.00239
NM_001112741.2(KCNC1):c.933C>T (p.Arg311=) rs76882721 0.00220
NM_001112741.2(KCNC1):c.1287C>A (p.Ala429=) rs139804857 0.00133
NM_001112741.2(KCNC1):c.912G>A (p.Lys304=) rs114815696 0.00036
NM_001112741.2(KCNC1):c.677A>T (p.Asn226Ile) rs73424032 0.00028
NM_001112741.2(KCNC1):c.750C>T (p.Gly250=) rs147271572 0.00028
NM_001112741.2(KCNC1):c.1584C>T (p.Pro528=) rs1044982783 0.00027
NM_001112741.2(KCNC1):c.717C>T (p.Ala239=) rs143670270 0.00019
NM_001112741.2(KCNC1):c.1659G>T (p.Glu553Asp) rs372580647 0.00018
NM_001112741.2(KCNC1):c.1505-9dup rs760343215 0.00013
NM_001112741.2(KCNC1):c.683G>T (p.Arg228Leu) rs200873319 0.00013
NM_001112741.2(KCNC1):c.1657G>A (p.Glu553Lys) rs531563186 0.00011
NM_001112741.2(KCNC1):c.1065C>T (p.Gly355=) rs533816804 0.00009
NM_001112741.2(KCNC1):c.1653C>T (p.Thr551=) rs368328020 0.00009
NM_001112741.2(KCNC1):c.421G>T (p.Asp141Tyr) rs376363769 0.00009
NM_001112741.2(KCNC1):c.831G>T (p.Ser277=) rs765494674 0.00009
NM_001112741.2(KCNC1):c.1284C>T (p.Ile428=) rs777458040 0.00007
NM_001112741.2(KCNC1):c.60G>A (p.Gln20=) rs993728478 0.00007
NM_001112741.2(KCNC1):c.1269G>A (p.Ala423=) rs150682385 0.00006
NM_001112741.2(KCNC1):c.1539G>A (p.Ala513=) rs377504774 0.00006
NM_001112741.2(KCNC1):c.594C>T (p.Phe198=) rs371344625 0.00006
NM_001112741.2(KCNC1):c.114G>A (p.Ala38=) rs200677353 0.00005
NM_001112741.2(KCNC1):c.1182C>T (p.Ala394=) rs148132957 0.00005
NM_001112741.2(KCNC1):c.1385G>A (p.Arg462Gln) rs200123434 0.00005
NM_001112741.2(KCNC1):c.1426G>A (p.Val476Ile) rs146311746 0.00005
NM_001112741.2(KCNC1):c.1467G>A (p.Pro489=) rs370905066 0.00005
NM_001112741.2(KCNC1):c.1673C>G (p.Pro558Arg) rs749270474 0.00005
NM_001112741.2(KCNC1):c.1146G>A (p.Thr382=) rs760069085 0.00004
NM_001112741.2(KCNC1):c.1383G>A (p.Pro461=) rs200078349 0.00004
NM_001112741.2(KCNC1):c.1505-18C>G rs758733821 0.00004
NM_001112741.2(KCNC1):c.1585G>A (p.Asp529Asn) rs927483438 0.00004
NM_001112741.2(KCNC1):c.255G>A (p.Pro85=) rs368634420 0.00004
NM_001112741.2(KCNC1):c.636C>T (p.His212=) rs745968113 0.00004
NM_001112741.2(KCNC1):c.915C>T (p.Asp305=) rs757117157 0.00004
NM_001112741.2(KCNC1):c.1137T>C (p.Ser379=) rs774880418 0.00003
NM_001112741.2(KCNC1):c.1224G>A (p.Pro408=) rs779961591 0.00003
NM_001112741.2(KCNC1):c.1450C>G (p.Gln484Glu) rs376505218 0.00003
NM_001112741.2(KCNC1):c.1505-17T>C rs780502809 0.00003
NM_001112741.2(KCNC1):c.1574C>T (p.Ala525Val) rs1169785679 0.00003
NM_001112741.2(KCNC1):c.1605G>A (p.Thr535=) rs760322146 0.00003
NM_001112741.2(KCNC1):c.1610C>T (p.Ser537Leu) rs374684541 0.00003
NM_001112741.2(KCNC1):c.1619G>A (p.Arg540His) rs375362627 0.00003
NM_001112741.2(KCNC1):c.1630G>A (p.Gly544Arg) rs758088373 0.00003
NM_001112741.2(KCNC1):c.1734G>A (p.Pro578=) rs1412531539 0.00003
NM_001112741.2(KCNC1):c.571-12T>C rs751102079 0.00003
NM_001112741.2(KCNC1):c.1095C>T (p.Tyr365=) rs569972571 0.00002
NM_001112741.2(KCNC1):c.1098C>T (p.Ala366=) rs143559782 0.00002
NM_001112741.2(KCNC1):c.1119C>A (p.Pro373=) rs143960025 0.00002
NM_001112741.2(KCNC1):c.1263G>A (p.Ala421=) rs915600389 0.00002
NM_001112741.2(KCNC1):c.1326T>C (p.Tyr442=) rs760728034 0.00002
NM_001112741.2(KCNC1):c.1392G>A (p.Pro464=) rs754731923 0.00002
NM_001112741.2(KCNC1):c.1524G>A (p.Glu508=) rs767680364 0.00002
NM_001112741.2(KCNC1):c.1537G>A (p.Ala513Thr) rs769979889 0.00002
NM_001112741.2(KCNC1):c.1662C>T (p.Tyr554=) rs578025939 0.00002
NM_001112741.2(KCNC1):c.1681G>A (p.Gly561Arg) rs1417612823 0.00002
NM_001112741.2(KCNC1):c.228G>A (p.Leu76=) rs1309850181 0.00002
NM_001112741.2(KCNC1):c.433G>C (p.Gly145Arg) rs759773311 0.00002
NM_001112741.2(KCNC1):c.688G>C (p.Gly230Arg) rs1323463103 0.00002
NM_001112741.2(KCNC1):c.696A>C (p.Gln232His) rs775885483 0.00002
NM_001112741.2(KCNC1):c.709C>T (p.Arg237Trp) rs150993414 0.00002
NM_001112741.2(KCNC1):c.762C>G (p.Val254=) rs138647448 0.00002
NM_001112741.2(KCNC1):c.960C>T (p.Arg320=) rs776391602 0.00002
NM_001112741.2(KCNC1):c.96G>A (p.Thr32=) rs140637569 0.00002
NM_001112741.2(KCNC1):c.1029C>T (p.Asn343=) rs755107336 0.00001
NM_001112741.2(KCNC1):c.1131C>T (p.Ser377=) rs1481676892 0.00001
NM_001112741.2(KCNC1):c.1167C>T (p.Ile389=) rs752732931 0.00001
NM_001112741.2(KCNC1):c.1197G>A (p.Thr399=) rs574378895 0.00001
NM_001112741.2(KCNC1):c.121G>A (p.Asp41Asn) rs1192156090 0.00001
NM_001112741.2(KCNC1):c.1305C>T (p.Ile435=) rs908674741 0.00001
NM_001112741.2(KCNC1):c.1317C>T (p.Phe439=) rs776064757 0.00001
NM_001112741.2(KCNC1):c.131G>A (p.Ser44Asn) rs773455390 0.00001
NM_001112741.2(KCNC1):c.1391C>T (p.Pro464Leu) rs899899700 0.00001
NM_001112741.2(KCNC1):c.1409A>G (p.Asn470Ser) rs143588903 0.00001
NM_001112741.2(KCNC1):c.1439A>G (p.His480Arg) rs1409273169 0.00001
NM_001112741.2(KCNC1):c.1451A>G (p.Gln484Arg) rs770586397 0.00001
NM_001112741.2(KCNC1):c.148C>T (p.Pro50Ser) rs763076681 0.00001
NM_001112741.2(KCNC1):c.1504+12C>G rs1176314990 0.00001
NM_001112741.2(KCNC1):c.1518T>C (p.Asn506=) rs747283873 0.00001
NM_001112741.2(KCNC1):c.1536C>T (p.Ala512=) rs748302217 0.00001
NM_001112741.2(KCNC1):c.1538C>T (p.Ala513Val) rs1485166517 0.00001
NM_001112741.2(KCNC1):c.1540C>T (p.Leu514=) rs1259127639 0.00001
NM_001112741.2(KCNC1):c.1545G>A (p.Ala515=) rs763202742 0.00001
NM_001112741.2(KCNC1):c.1548C>T (p.Asn516=) rs1338589874 0.00001
NM_001112741.2(KCNC1):c.1549G>A (p.Glu517Lys) rs1243389624 0.00001
NM_001112741.2(KCNC1):c.1564A>G (p.Ile522Val) rs920182710 0.00001
NM_001112741.2(KCNC1):c.159C>A (p.Asp53Glu) rs1393327105 0.00001
NM_001112741.2(KCNC1):c.1606C>T (p.Arg536Cys) rs370730720 0.00001
NM_001112741.2(KCNC1):c.1607G>A (p.Arg536His) rs1442404828 0.00001
NM_001112741.2(KCNC1):c.1621G>A (p.Glu541Lys) rs896883949 0.00001
NM_001112741.2(KCNC1):c.1627T>C (p.Tyr543His) rs775725087 0.00001
NM_001112741.2(KCNC1):c.1663G>A (p.Ala555Thr) rs1237851177 0.00001
NM_001112741.2(KCNC1):c.1664C>T (p.Ala555Val) rs1006803225 0.00001
NM_001112741.2(KCNC1):c.1669C>T (p.Pro557Ser) rs773372284 0.00001
NM_001112741.2(KCNC1):c.1729A>C (p.Met577Leu) rs755441537 0.00001
NM_001112741.2(KCNC1):c.1739A>G (p.Glu580Gly) rs1284857169 0.00001
NM_001112741.2(KCNC1):c.202C>T (p.Leu68=) rs751042459 0.00001
NM_001112741.2(KCNC1):c.324G>A (p.Thr108=) rs1009771675 0.00001
NM_001112741.2(KCNC1):c.327C>T (p.Tyr109=) rs1590088932 0.00001
NM_001112741.2(KCNC1):c.394G>A (p.Asp132Asn) rs770445113 0.00001
NM_001112741.2(KCNC1):c.492G>A (p.Arg164=) rs200097310 0.00001
NM_001112741.2(KCNC1):c.494C>T (p.Pro165Leu) rs749790557 0.00001
NM_001112741.2(KCNC1):c.511C>T (p.Arg171Cys) rs1286632713 0.00001
NM_001112741.2(KCNC1):c.523C>T (p.Arg175Cys) rs1197911307 0.00001
NM_001112741.2(KCNC1):c.571-9T>A rs1163443609 0.00001
NM_001112741.2(KCNC1):c.582C>T (p.Phe194=) rs752386683 0.00001
NM_001112741.2(KCNC1):c.654C>A (p.Ile218=) rs747207268 0.00001
NM_001112741.2(KCNC1):c.654C>T (p.Ile218=) rs747207268 0.00001
NM_001112741.2(KCNC1):c.666G>A (p.Thr222=) rs769612184 0.00001
NM_001112741.2(KCNC1):c.667G>A (p.Glu223Lys) rs1849232122 0.00001
NM_001112741.2(KCNC1):c.678C>T (p.Asn226=) rs1423338721 0.00001
NM_001112741.2(KCNC1):c.693G>A (p.Thr231=) rs752437957 0.00001
NM_001112741.2(KCNC1):c.701G>A (p.Arg234His) rs763794003 0.00001
NM_001112741.2(KCNC1):c.710G>A (p.Arg237Gln) rs200015927 0.00001
NM_001112741.2(KCNC1):c.723G>A (p.Thr241=) rs780073632 0.00001
NM_001112741.2(KCNC1):c.751G>A (p.Val251Ile) rs1465921956 0.00001
NM_001112741.2(KCNC1):c.774C>T (p.Phe258=) rs759363166 0.00001
NM_001112741.2(KCNC1):c.806A>G (p.Asn269Ser) rs368573465 0.00001
NM_001112741.2(KCNC1):c.870C>T (p.Tyr290=) rs758930689 0.00001
NM_001112741.2(KCNC1):c.888C>T (p.Ser296=) rs529332669 0.00001
NM_001112741.2(KCNC1):c.889G>A (p.Gly297Ser) rs781542866 0.00001
NM_001112741.2(KCNC1):c.900C>T (p.Ser300=) rs1050595870 0.00001
NM_001112741.2(KCNC1):c.972G>A (p.Leu324=) rs761337620 0.00001
NC_000011.10:g.(?_17735983)_(17781754_?)dup
NC_000011.9:g.(?_17757550)_(17758139_?)dup
NM_001112741.2(KCNC1):c.1002G>A (p.Leu334=)
NM_001112741.2(KCNC1):c.1005C>T (p.Gly335=)
NM_001112741.2(KCNC1):c.1008C>T (p.His336=) rs2133805231
NM_001112741.2(KCNC1):c.1009A>C (p.Thr337Pro)
NM_001112741.2(KCNC1):c.1011G>A (p.Thr337=)
NM_001112741.2(KCNC1):c.1011G>T (p.Thr337=) rs1408786425
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter) rs1849236683
NM_001112741.2(KCNC1):c.1023C>G (p.Ser341Arg)
NM_001112741.2(KCNC1):c.102C>A (p.Leu34=) rs370742331
NM_001112741.2(KCNC1):c.102C>T (p.Leu34=)
NM_001112741.2(KCNC1):c.1058C>T (p.Ala353Val)
NM_001112741.2(KCNC1):c.1059C>T (p.Ala353=) rs370151071
NM_001112741.2(KCNC1):c.105C>G (p.Ala35=)
NM_001112741.2(KCNC1):c.1077C>T (p.Phe359=)
NM_001112741.2(KCNC1):c.1078G>A (p.Ala360Thr)
NM_001112741.2(KCNC1):c.1087A>G (p.Ile363Val)
NM_001112741.2(KCNC1):c.108del (p.Trp36fs) rs1590088831
NM_001112741.2(KCNC1):c.1096G>T (p.Ala366Ser)
NM_001112741.2(KCNC1):c.1116G>A (p.Gln372=) rs1590106691
NM_001112741.2(KCNC1):c.1119C>T (p.Pro373=) rs143960025
NM_001112741.2(KCNC1):c.1121A>G (p.Asn374Ser)
NM_001112741.2(KCNC1):c.1149C>T (p.His383=) rs555654219
NM_001112741.2(KCNC1):c.1154A>C (p.Lys385Thr) rs1554991360
NM_001112741.2(KCNC1):c.1173C>T (p.Phe391=)
NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met) rs2133805364
NM_001112741.2(KCNC1):c.1199C>A (p.Thr400Asn)
NM_001112741.2(KCNC1):c.11G>A (p.Gly4Glu) rs1848761561
NM_001112741.2(KCNC1):c.1204G>A (p.Gly402Ser)
NM_001112741.2(KCNC1):c.120C>G (p.Pro40=) rs1590088845
NM_001112741.2(KCNC1):c.1211G>A (p.Gly404Glu)
NM_001112741.2(KCNC1):c.1223C>T (p.Pro408Leu) rs1355766508
NM_001112741.2(KCNC1):c.1230G>A (p.Thr410=)
NM_001112741.2(KCNC1):c.1239C>T (p.Gly413=) rs2133805399
NM_001112741.2(KCNC1):c.1245G>T (p.Leu415=) rs1849239262
NM_001112741.2(KCNC1):c.1252G>T (p.Ala418Ser) rs1849239426
NM_001112741.2(KCNC1):c.1260T>C (p.Cys420=)
NM_001112741.2(KCNC1):c.1261G>A (p.Ala421Thr) rs1565162836
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001112741.2(KCNC1):c.1263G>T (p.Ala421=) rs915600389
NM_001112741.2(KCNC1):c.1266G>A (p.Leu422=) rs1849239879
NM_001112741.2(KCNC1):c.1267G>T (p.Ala423Ser) rs2133805436
NM_001112741.2(KCNC1):c.1268C>T (p.Ala423Val)
NM_001112741.2(KCNC1):c.1271G>C (p.Gly424Ala)
NM_001112741.2(KCNC1):c.1272C>T (p.Gly424=)
NM_001112741.2(KCNC1):c.1273G>A (p.Val425Met) rs1085307785
NM_001112741.2(KCNC1):c.1278C>G (p.Leu426=)
NM_001112741.2(KCNC1):c.1278C>T (p.Leu426=)
NM_001112741.2(KCNC1):c.1285G>A (p.Ala429Thr) rs2133805458
NM_001112741.2(KCNC1):c.1290G>T (p.Met430Ile)
NM_001112741.2(KCNC1):c.1293C>G (p.Pro431=) rs577711585
NM_001112741.2(KCNC1):c.1293C>T (p.Pro431=) rs577711585
NM_001112741.2(KCNC1):c.1294G>A (p.Val432Met) rs1057524670
NM_001112741.2(KCNC1):c.1294G>C (p.Val432Leu)
NM_001112741.2(KCNC1):c.1299C>T (p.Pro433=)
NM_001112741.2(KCNC1):c.1300G>C (p.Val434Leu) rs1849240404
NM_001112741.2(KCNC1):c.130A>G (p.Ser44Gly)
NM_001112741.2(KCNC1):c.1321A>T (p.Met441Leu) rs1849240546
NM_001112741.2(KCNC1):c.1331C>T (p.Ser444Phe)
NM_001112741.2(KCNC1):c.1332C>T (p.Ser444=) rs1849240658
NM_001112741.2(KCNC1):c.133C>T (p.His45Tyr) rs1470613305
NM_001112741.2(KCNC1):c.134A>G (p.His45Arg)
NM_001112741.2(KCNC1):c.1350G>A (p.Gln450=)
NM_001112741.2(KCNC1):c.1353A>G (p.Lys451=)
NM_001112741.2(KCNC1):c.1370A>T (p.Lys457Met)
NM_001112741.2(KCNC1):c.1370del (p.Lys457fs) rs1590106815
NM_001112741.2(KCNC1):c.1372A>C (p.Lys458Gln)
NM_001112741.2(KCNC1):c.1374G>A (p.Lys458=)
NM_001112741.2(KCNC1):c.1378A>G (p.Ile460Val)
NM_001112741.2(KCNC1):c.1386del (p.Pro463fs) rs2133805531
NM_001112741.2(KCNC1):c.138C>G (p.Phe46Leu) rs1848763448
NM_001112741.2(KCNC1):c.1399G>C (p.Gly467Arg) rs1477026732
NM_001112741.2(KCNC1):c.1407C>A (p.Pro469=)
NM_001112741.2(KCNC1):c.1413T>C (p.Tyr471=) rs1395569436
NM_001112741.2(KCNC1):c.1419A>T (p.Lys473Asn) rs2133805555
NM_001112741.2(KCNC1):c.1421C>A (p.Ser474Tyr) rs1554991422
NM_001112741.2(KCNC1):c.1421C>G (p.Ser474Cys) rs1554991422
NM_001112741.2(KCNC1):c.1425C>T (p.Val475=)
NM_001112741.2(KCNC1):c.1430A>G (p.Asn477Ser) rs1849241725
NM_001112741.2(KCNC1):c.1438C>A (p.His480Asn) rs1554991425
NM_001112741.2(KCNC1):c.1440C>T (p.His480=) rs1554991429
NM_001112741.2(KCNC1):c.1460C>G (p.Thr487Arg)
NM_001112741.2(KCNC1):c.1466C>T (p.Pro489Leu) rs772473741
NM_001112741.2(KCNC1):c.1468C>T (p.Leu490=)
NM_001112741.2(KCNC1):c.147C>T (p.Asp49=) rs2133774090
NM_001112741.2(KCNC1):c.1494T>G (p.Ile498Met) rs761924422
NM_001112741.2(KCNC1):c.1501G>C (p.Ala501Pro)
NM_001112741.2(KCNC1):c.1504G>A (p.Asp502Asn) rs1849242580
NM_001112741.2(KCNC1):c.1505-11T>C rs1849322026
NM_001112741.2(KCNC1):c.1505-14T>C
NM_001112741.2(KCNC1):c.1505-8G>A rs1353872876
NM_001112741.2(KCNC1):c.1505A>G (p.Asp502Gly) rs1590109843
NM_001112741.2(KCNC1):c.150G>C (p.Pro50=)
NM_001112741.2(KCNC1):c.1524G>T (p.Glu508Asp) rs767680364
NM_001112741.2(KCNC1):c.1525G>A (p.Val509Met) rs2133810389
NM_001112741.2(KCNC1):c.1529C>T (p.Ala510Val) rs1849322367
NM_001112741.2(KCNC1):c.1532A>G (p.Lys511Arg) rs2133810396
NM_001112741.2(KCNC1):c.1534G>C (p.Ala512Pro) rs777209898
NM_001112741.2(KCNC1):c.1544C>A (p.Ala515Glu) rs917512311
NM_001112741.2(KCNC1):c.1544C>T (p.Ala515Val) rs917512311
NM_001112741.2(KCNC1):c.1546A>G (p.Asn516Asp)
NM_001112741.2(KCNC1):c.1567G>A (p.Asp523Asn) rs2133810423
NM_001112741.2(KCNC1):c.1573G>A (p.Ala525Thr)
NM_001112741.2(KCNC1):c.1584C>G (p.Pro528=) rs1044982783
NM_001112741.2(KCNC1):c.1587T>C (p.Asp529=)
NM_001112741.2(KCNC1):c.1591G>A (p.Gly531Ser)
NM_001112741.2(KCNC1):c.1607G>C (p.Arg536Pro)
NM_001112741.2(KCNC1):c.1611G>A (p.Ser537=)
NM_001112741.2(KCNC1):c.1614C>A (p.Gly538=)
NM_001112741.2(KCNC1):c.1621G>C (p.Glu541Gln) rs896883949
NM_001112741.2(KCNC1):c.1625G>A (p.Arg542Lys) rs1021551048
NM_001112741.2(KCNC1):c.1625G>T (p.Arg542Ile) rs1021551048
NM_001112741.2(KCNC1):c.1633C>T (p.Pro545Ser)
NM_001112741.2(KCNC1):c.1647A>T (p.Leu549Phe)
NM_001112741.2(KCNC1):c.1648T>A (p.Ser550Thr) rs2133810488
NM_001112741.2(KCNC1):c.1648T>C (p.Ser550Pro) rs2133810488
NM_001112741.2(KCNC1):c.1649C>T (p.Ser550Leu) rs1849324263
NM_001112741.2(KCNC1):c.1651A>C (p.Thr551Pro)
NM_001112741.2(KCNC1):c.1653C>G (p.Thr551=)
NM_001112741.2(KCNC1):c.1654G>A (p.Gly552Arg) rs755386451
NM_001112741.2(KCNC1):c.1654G>C (p.Gly552Arg) rs755386451
NM_001112741.2(KCNC1):c.1660T>G (p.Tyr554Asp) rs1167541162
NM_001112741.2(KCNC1):c.1662C>A (p.Tyr554Ter)
NM_001112741.2(KCNC1):c.1673C>T (p.Pro558Leu) rs749270474
NM_001112741.2(KCNC1):c.1693+10G>A
NM_001112741.2(KCNC1):c.1694-20A>C
NM_001112741.2(KCNC1):c.16G>C (p.Glu6Gln) rs2133773929
NM_001112741.2(KCNC1):c.1704A>G (p.Lys568=) rs1590110945
NM_001112741.2(KCNC1):c.1711C>T (p.Pro571Ser)
NM_001112741.2(KCNC1):c.1731G>C (p.Met577Ile)
NM_001112741.2(KCNC1):c.1733C>T (p.Pro578Leu) rs1361289047
NM_001112741.2(KCNC1):c.1748G>A (p.Arg583Lys)
NM_001112741.2(KCNC1):c.1755T>C (p.Thr585=) rs1849348583
NM_001112741.2(KCNC1):c.176G>A (p.Arg59His) rs2133774134
NM_001112741.2(KCNC1):c.183C>T (p.Pro61=) rs1565152688
NM_001112741.2(KCNC1):c.215G>T (p.Arg72Leu) rs1848764021
NM_001112741.2(KCNC1):c.219G>C (p.Thr73=) rs760446616
NM_001112741.2(KCNC1):c.219G>T (p.Thr73=)
NM_001112741.2(KCNC1):c.223A>G (p.Lys75Glu) rs1565152713
NM_001112741.2(KCNC1):c.237A>C (p.Pro79=)
NM_001112741.2(KCNC1):c.246G>T (p.Val82=) rs976496510
NM_001112741.2(KCNC1):c.249C>T (p.Cys83=) rs2133774214
NM_001112741.2(KCNC1):c.256C>T (p.Leu86Phe)
NM_001112741.2(KCNC1):c.258C>G (p.Leu86=) rs923234444
NM_001112741.2(KCNC1):c.261C>T (p.Tyr87=) rs2133774226
NM_001112741.2(KCNC1):c.282G>T (p.Trp94Cys) rs1848764853
NM_001112741.2(KCNC1):c.285C>T (p.Gly95=)
NM_001112741.2(KCNC1):c.30C>T (p.Ile10=)
NM_001112741.2(KCNC1):c.320T>C (p.Met107Thr)
NM_001112741.2(KCNC1):c.345C>G (p.Ala115=)
NM_001112741.2(KCNC1):c.345C>T (p.Ala115=)
NM_001112741.2(KCNC1):c.355C>T (p.Leu119=)
NM_001112741.2(KCNC1):c.36C>A (p.Ile12=) rs2133773940
NM_001112741.2(KCNC1):c.391G>A (p.Ala131Thr)
NM_001112741.2(KCNC1):c.392C>A (p.Ala131Asp) rs1848765901
NM_001112741.2(KCNC1):c.393C>T (p.Ala131=) rs1208626021
NM_001112741.2(KCNC1):c.400_414del (p.Ala134_Gly138del)
NM_001112741.2(KCNC1):c.401C>T (p.Ala134Val)
NM_001112741.2(KCNC1):c.402G>A (p.Ala134=) rs1590089002
NM_001112741.2(KCNC1):c.408C>T (p.Ala136=) rs2133774376
NM_001112741.2(KCNC1):c.409G>A (p.Asp137Asn) rs1848766389
NM_001112741.2(KCNC1):c.420C>A (p.Gly140=) rs750885846
NM_001112741.2(KCNC1):c.423C>G (p.Asp141Glu)
NM_001112741.2(KCNC1):c.428G>A (p.Gly143Asp) rs1848766892
NM_001112741.2(KCNC1):c.432C>T (p.Asp144=)
NM_001112741.2(KCNC1):c.435C>A (p.Gly145=) rs767598381
NM_001112741.2(KCNC1):c.435C>T (p.Gly145=) rs767598381
NM_001112741.2(KCNC1):c.439G>A (p.Asp147Asn)
NM_001112741.2(KCNC1):c.441C>G (p.Asp147Glu) rs1279299321
NM_001112741.2(KCNC1):c.459G>A (p.Lys153=)
NM_001112741.2(KCNC1):c.465G>T (p.Leu155=) rs1261040962
NM_001112741.2(KCNC1):c.468G>A (p.Ala156=)
NM_001112741.2(KCNC1):c.468G>C (p.Ala156=)
NM_001112741.2(KCNC1):c.468G>T (p.Ala156=) rs200830147
NM_001112741.2(KCNC1):c.479C>T (p.Ser160Phe)
NM_001112741.2(KCNC1):c.483G>C (p.Pro161=)
NM_001112741.2(KCNC1):c.486T>A (p.Asp162Glu) rs1436435735
NM_001112741.2(KCNC1):c.486T>G (p.Asp162Glu)
NM_001112741.2(KCNC1):c.487G>A (p.Gly163Ser) rs570508576
NM_001112741.2(KCNC1):c.489C>T (p.Gly163=) rs1848767998
NM_001112741.2(KCNC1):c.490C>T (p.Arg164Trp) rs756544748
NM_001112741.2(KCNC1):c.492G>C (p.Arg164=) rs200097310
NM_001112741.2(KCNC1):c.497G>A (p.Gly166Asp) rs1848768219
NM_001112741.2(KCNC1):c.499G>T (p.Gly167Cys) rs1274575581
NM_001112741.2(KCNC1):c.500G>A (p.Gly167Asp) rs780758127
NM_001112741.2(KCNC1):c.512G>A (p.Arg171His)
NM_001112741.2(KCNC1):c.51G>A (p.Thr17=) rs1423569470
NM_001112741.2(KCNC1):c.526A>T (p.Ile176Phe)
NM_001112741.2(KCNC1):c.528C>G (p.Ile176Met)
NM_001112741.2(KCNC1):c.535C>T (p.Leu179Phe)
NM_001112741.2(KCNC1):c.540C>T (p.Phe180=)
NM_001112741.2(KCNC1):c.548C>G (p.Pro183Arg) rs1848768884
NM_001112741.2(KCNC1):c.554C>T (p.Ser185Leu) rs1565152898
NM_001112741.2(KCNC1):c.558C>T (p.Ser186=) rs1239110234
NM_001112741.2(KCNC1):c.563A>G (p.Tyr188Cys) rs1027286161
NM_001112741.2(KCNC1):c.570+11A>G rs2133774637
NM_001112741.2(KCNC1):c.571-15T>A
NM_001112741.2(KCNC1):c.571-17T>A
NM_001112741.2(KCNC1):c.594C>G (p.Phe198Leu)
NM_001112741.2(KCNC1):c.603G>T (p.Leu201=)
NM_001112741.2(KCNC1):c.611T>C (p.Ile204Thr) rs1554991304
NM_001112741.2(KCNC1):c.612C>A (p.Ile204=) rs1294173097
NM_001112741.2(KCNC1):c.637G>A (p.Glu213Lys)
NM_001112741.2(KCNC1):c.640C>A (p.Arg214Ser)
NM_001112741.2(KCNC1):c.640C>T (p.Arg214Cys) rs772042572
NM_001112741.2(KCNC1):c.641G>A (p.Arg214His)
NM_001112741.2(KCNC1):c.649C>T (p.Pro217Ser)
NM_001112741.2(KCNC1):c.655G>A (p.Val219Met)
NM_001112741.2(KCNC1):c.665C>T (p.Thr222Met)
NM_001112741.2(KCNC1):c.672C>A (p.Ile224=) rs773018717
NM_001112741.2(KCNC1):c.679G>A (p.Val227Ile) rs1590106427
NM_001112741.2(KCNC1):c.683G>A (p.Arg228His) rs200873319
NM_001112741.2(KCNC1):c.683G>C (p.Arg228Pro) rs200873319
NM_001112741.2(KCNC1):c.68G>A (p.Arg23His) rs1158193192
NM_001112741.2(KCNC1):c.691A>G (p.Thr231Ala) rs1565162623
NM_001112741.2(KCNC1):c.692C>T (p.Thr231Met) rs1554991314
NM_001112741.2(KCNC1):c.700C>T (p.Arg234Cys)
NM_001112741.2(KCNC1):c.702C>G (p.Arg234=) rs1849232973
NM_001112741.2(KCNC1):c.706T>C (p.Tyr236His) rs1849232996
NM_001112741.2(KCNC1):c.707A>G (p.Tyr236Cys)
NM_001112741.2(KCNC1):c.710G>T (p.Arg237Leu)
NM_001112741.2(KCNC1):c.714G>A (p.Glu238=) rs2133804963
NM_001112741.2(KCNC1):c.71C>G (p.Ser24Trp)
NM_001112741.2(KCNC1):c.722C>G (p.Thr241Arg)
NM_001112741.2(KCNC1):c.728C>A (p.Ala243Asp)
NM_001112741.2(KCNC1):c.729C>T (p.Ala243=) rs1565162637
NM_001112741.2(KCNC1):c.742A>G (p.Ile248Val)
NM_001112741.2(KCNC1):c.744C>T (p.Ile248=) rs2229007
NM_001112741.2(KCNC1):c.74C>T (p.Thr25Ile)
NM_001112741.2(KCNC1):c.775G>A (p.Glu259Lys) rs1849234046
NM_001112741.2(KCNC1):c.785T>C (p.Met262Thr)
NM_001112741.2(KCNC1):c.788G>A (p.Arg263His) rs775163829
NM_001112741.2(KCNC1):c.78G>C (p.Leu26=) rs762218553
NM_001112741.2(KCNC1):c.792C>T (p.Val264=)
NM_001112741.2(KCNC1):c.793A>G (p.Ile265Val)
NM_001112741.2(KCNC1):c.801C>T (p.Cys267=)
NM_001112741.2(KCNC1):c.805A>G (p.Asn269Asp)
NM_001112741.2(KCNC1):c.819C>T (p.Phe273=) rs2133805071
NM_001112741.2(KCNC1):c.822C>A (p.Ile274=)
NM_001112741.2(KCNC1):c.822C>T (p.Ile274=)
NM_001112741.2(KCNC1):c.831G>A (p.Ser277=) rs765494674
NM_001112741.2(KCNC1):c.847T>C (p.Phe283Leu) rs940677477
NM_001112741.2(KCNC1):c.84G>A (p.Thr28=)
NM_001112741.2(KCNC1):c.859C>A (p.Leu287Met) rs1849234887
NM_001112741.2(KCNC1):c.882G>T (p.Gly294=) rs1849235107
NM_001112741.2(KCNC1):c.883C>T (p.Leu295=)
NM_001112741.2(KCNC1):c.891C>G (p.Gly297=) rs1045267894
NM_001112741.2(KCNC1):c.90C>A (p.Pro30=) rs1848762536
NM_001112741.2(KCNC1):c.916G>A (p.Val306Met) rs369830206
NM_001112741.2(KCNC1):c.916G>T (p.Val306Leu) rs369830206
NM_001112741.2(KCNC1):c.919C>T (p.Leu307=) rs1158060067
NM_001112741.2(KCNC1):c.91G>A (p.Gly31Ser) rs2133774003
NM_001112741.2(KCNC1):c.936C>T (p.Val312=)
NM_001112741.2(KCNC1):c.948G>A (p.Val316=) rs1462259575
NM_001112741.2(KCNC1):c.958del (p.Arg320fs) rs2133805185
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001112741.2(KCNC1):c.983T>C (p.Phe328Ser)

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.