ClinVar Miner

List of variants in gene KCNC1 reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_001112741.2(KCNC1):c.1657G>A (p.Glu553Lys) rs531563186 0.00011
NM_001112741.2(KCNC1):c.421G>T (p.Asp141Tyr) rs376363769 0.00009
NM_001112741.2(KCNC1):c.1385G>A (p.Arg462Gln) rs200123434 0.00005
NM_001112741.2(KCNC1):c.1673C>G (p.Pro558Arg) rs749270474 0.00005
NM_001112741.2(KCNC1):c.1585G>A (p.Asp529Asn) rs927483438 0.00004
NM_001112741.2(KCNC1):c.1450C>G (p.Gln484Glu) rs376505218 0.00003
NM_001112741.2(KCNC1):c.1574C>T (p.Ala525Val) rs1169785679 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.1537G>A (p.Ala513Thr) rs769979889 0.00002
NM_001112741.2(KCNC1):c.1681G>A (p.Gly561Arg) rs1417612823 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.121G>A (p.Asp41Asn) rs1192156090 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.148C>T (p.Pro50Ser) rs763076681 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.394G>A (p.Asp132Asn) rs770445113 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.654C>A (p.Ile218=) rs747207268 0.00001
NM_001112741.2(KCNC1):c.667G>A (p.Glu223Lys) rs1849232122 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.751G>A (p.Val251Ile) rs1465921956 0.00001
NM_001112741.2(KCNC1):c.806A>G (p.Asn269Ser) rs368573465 0.00001
NM_001112741.2(KCNC1):c.889G>A (p.Gly297Ser) rs781542866 0.00001
NC_000011.10:g.(?_17735983)_(17781754_?)dup
NC_000011.9:g.(?_17757550)_(17758139_?)dup
NM_001112741.2(KCNC1):c.1009A>C (p.Thr337Pro)
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter) rs1849236683
NM_001112741.2(KCNC1):c.1058C>T (p.Ala353Val)
NM_001112741.2(KCNC1):c.1078G>A (p.Ala360Thr)
NM_001112741.2(KCNC1):c.1087A>G (p.Ile363Val)
NM_001112741.2(KCNC1):c.1096G>T (p.Ala366Ser)
NM_001112741.2(KCNC1):c.1121A>G (p.Asn374Ser)
NM_001112741.2(KCNC1):c.1154A>C (p.Lys385Thr) rs1554991360
NM_001112741.2(KCNC1):c.1204G>A (p.Gly402Ser)
NM_001112741.2(KCNC1):c.1211G>A (p.Gly404Glu)
NM_001112741.2(KCNC1):c.1223C>T (p.Pro408Leu) rs1355766508
NM_001112741.2(KCNC1):c.1252G>T (p.Ala418Ser) rs1849239426
NM_001112741.2(KCNC1):c.1261G>A (p.Ala421Thr) rs1565162836
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.1273G>A (p.Val425Met) rs1085307785
NM_001112741.2(KCNC1):c.1285G>A (p.Ala429Thr) rs2133805458
NM_001112741.2(KCNC1):c.1290G>T (p.Met430Ile)
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.133C>T (p.His45Tyr) rs1470613305
NM_001112741.2(KCNC1):c.134A>G (p.His45Arg)
NM_001112741.2(KCNC1):c.1370A>T (p.Lys457Met)
NM_001112741.2(KCNC1):c.1372A>C (p.Lys458Gln)
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.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.1430A>G (p.Asn477Ser) rs1849241725
NM_001112741.2(KCNC1):c.1438C>A (p.His480Asn) rs1554991425
NM_001112741.2(KCNC1):c.1460C>G (p.Thr487Arg)
NM_001112741.2(KCNC1):c.1466C>T (p.Pro489Leu) rs772473741
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.1505A>G (p.Asp502Gly) rs1590109843
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.1567G>A (p.Asp523Asn) rs2133810423
NM_001112741.2(KCNC1):c.1573G>A (p.Ala525Thr)
NM_001112741.2(KCNC1):c.1591G>A (p.Gly531Ser)
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.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.16G>C (p.Glu6Gln) rs2133773929
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.176G>A (p.Arg59His) rs2133774134
NM_001112741.2(KCNC1):c.223A>G (p.Lys75Glu) rs1565152713
NM_001112741.2(KCNC1):c.256C>T (p.Leu86Phe)
NM_001112741.2(KCNC1):c.320T>C (p.Met107Thr)
NM_001112741.2(KCNC1):c.391G>A (p.Ala131Thr)
NM_001112741.2(KCNC1):c.392C>A (p.Ala131Asp) rs1848765901
NM_001112741.2(KCNC1):c.400_414del (p.Ala134_Gly138del)
NM_001112741.2(KCNC1):c.401C>T (p.Ala134Val)
NM_001112741.2(KCNC1):c.409G>A (p.Asp137Asn) rs1848766389
NM_001112741.2(KCNC1):c.423C>G (p.Asp141Glu)
NM_001112741.2(KCNC1):c.428G>A (p.Gly143Asp) rs1848766892
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.479C>T (p.Ser160Phe)
NM_001112741.2(KCNC1):c.486T>G (p.Asp162Glu)
NM_001112741.2(KCNC1):c.487G>A (p.Gly163Ser) rs570508576
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.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.548C>G (p.Pro183Arg) rs1848768884
NM_001112741.2(KCNC1):c.554C>T (p.Ser185Leu) rs1565152898
NM_001112741.2(KCNC1):c.563A>G (p.Tyr188Cys) rs1027286161
NM_001112741.2(KCNC1):c.594C>G (p.Phe198Leu)
NM_001112741.2(KCNC1):c.611T>C (p.Ile204Thr) rs1554991304
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.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.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.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.742A>G (p.Ile248Val)
NM_001112741.2(KCNC1):c.74C>T (p.Thr25Ile)
NM_001112741.2(KCNC1):c.775G>A (p.Glu259Lys) rs1849234046
NM_001112741.2(KCNC1):c.788G>A (p.Arg263His) rs775163829
NM_001112741.2(KCNC1):c.793A>G (p.Ile265Val)
NM_001112741.2(KCNC1):c.805A>G (p.Asn269Asp)
NM_001112741.2(KCNC1):c.859C>A (p.Leu287Met) rs1849234887
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.91G>A (p.Gly31Ser) rs2133774003
NM_001112741.2(KCNC1):c.958del (p.Arg320fs) rs2133805185
NM_001112741.2(KCNC1):c.983T>C (p.Phe328Ser)

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