ClinVar Miner

List of variants in gene CACNA1C reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 344
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133 0.00120
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008 0.00096
NM_000719.7(CACNA1C):c.3049-10C>T rs186741807 0.00093
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466 0.00088
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207 0.00083
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) rs200330469 0.00063
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=) rs375534041 0.00062
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) rs184684058 0.00045
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) rs200588235 0.00032
NM_000719.7(CACNA1C):c.4641C>T (p.Asn1547=) rs202194703 0.00031
NM_000719.7(CACNA1C):c.2460+6G>A rs369246066 0.00029
NM_000719.7(CACNA1C):c.5149G>A (p.Ala1717Thr) rs200865354 0.00029
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456 0.00025
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=) rs370576211 0.00025
NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln) rs373335068 0.00024
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) rs375818733 0.00024
NM_000719.7(CACNA1C):c.3946-12G>A rs41276706 0.00021
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=) rs374857905 0.00019
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile) rs201392574 0.00018
NM_000719.7(CACNA1C):c.4140+4G>A rs111442547 0.00018
NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=) rs541967618 0.00017
NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala) rs199694744 0.00016
NM_000719.7(CACNA1C):c.5444+599C>A rs551355331 0.00015
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro) rs369438564 0.00015
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790 0.00014
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met) rs727503835 0.00014
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) rs370432385 0.00011
NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met) rs763738559 0.00010
NM_000719.7(CACNA1C):c.4624-8G>A rs529345041 0.00010
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln) rs758166168 0.00010
NM_000719.7(CACNA1C):c.865C>A (p.Leu289Ile) rs770311259 0.00010
NM_000719.7(CACNA1C):c.1341C>T (p.Ile447=) rs377643814 0.00009
NM_000719.7(CACNA1C):c.1509-12T>G rs200412525 0.00009
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843 0.00009
NM_000719.7(CACNA1C):c.459C>T (p.Asn153=) rs367638447 0.00009
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568 0.00009
NM_000719.7(CACNA1C):c.5138A>G (p.Asp1713Gly) rs769297492 0.00009
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) rs549476254 0.00009
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=) rs369079645 0.00009
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) rs371831239 0.00008
NM_000719.7(CACNA1C):c.2566G>A (p.Gly856Ser) rs145549773 0.00007
NM_000719.7(CACNA1C):c.3200C>T (p.Ala1067Val) rs750998195 0.00007
NM_000719.7(CACNA1C):c.5671G>C (p.Ala1891Pro) rs542914369 0.00007
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn) rs199473392 0.00007
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser) rs749935207 0.00006
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557 0.00006
NM_000719.7(CACNA1C):c.5423C>T (p.Ala1808Val) rs745997744 0.00006
NM_000719.7(CACNA1C):c.959C>T (p.Thr320Met) rs377737331 0.00006
NM_000719.7(CACNA1C):c.101C>T (p.Ala34Val) rs551396698 0.00005
NM_000719.7(CACNA1C):c.107C>T (p.Ala36Val) rs755028000 0.00005
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met) rs572234918 0.00005
NM_000719.7(CACNA1C):c.3946-51C>T rs202216172 0.00005
NM_000719.7(CACNA1C):c.5144G>A (p.Arg1715Gln) rs376706496 0.00005
NM_000719.7(CACNA1C):c.1477C>A (p.Leu493Met) rs376530064 0.00004
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln) rs369255950 0.00004
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=) rs398123517 0.00004
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr) rs371702432 0.00004
NM_000719.7(CACNA1C):c.2327A>G (p.Lys776Arg) rs786205751 0.00004
NM_000719.7(CACNA1C):c.4727-61G>A rs761831470 0.00004
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) rs531161884 0.00004
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881 0.00004
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) rs760888275 0.00003
NM_000719.7(CACNA1C):c.1693G>A (p.Ala565Thr) rs777945001 0.00003
NM_000719.7(CACNA1C):c.1823C>T (p.Thr608Ile) rs757507674 0.00003
NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr) rs398123519 0.00003
NM_000719.7(CACNA1C):c.2813T>C (p.Ile938Thr) rs377165829 0.00003
NM_000719.7(CACNA1C):c.3295G>A (p.Asp1099Asn) rs771549676 0.00003
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651 0.00003
NM_000719.7(CACNA1C):c.3943A>G (p.Met1315Val) rs756734279 0.00003
NM_000719.7(CACNA1C):c.3946-45C>G rs201551454 0.00003
NM_000719.7(CACNA1C):c.4727-10C>T rs749903718 0.00003
NM_000719.7(CACNA1C):c.50-3C>T rs780161540 0.00003
NM_000719.7(CACNA1C):c.5091+8G>A rs768117202 0.00003
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) rs761966966 0.00003
NM_000719.7(CACNA1C):c.5140G>A (p.Gly1714Ser) rs533676935 0.00003
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=) rs530924728 0.00003
NM_000719.7(CACNA1C):c.538G>A (p.Ala180Thr) rs786205769 0.00003
NM_000719.7(CACNA1C):c.5492C>T (p.Thr1831Met) rs186015395 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn) rs373503739 0.00003
NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser) rs886049209 0.00003
NM_000719.7(CACNA1C):c.1342G>A (p.Asp448Asn) rs786205746 0.00002
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg) rs545511851 0.00002
NM_000719.7(CACNA1C):c.2795T>C (p.Ile932Thr) rs786205756 0.00002
NM_000719.7(CACNA1C):c.3156+6G>C rs398123520 0.00002
NM_000719.7(CACNA1C):c.3424A>C (p.Ile1142Leu) rs752247655 0.00002
NM_000719.7(CACNA1C):c.3748G>A (p.Ala1250Thr) rs373930708 0.00002
NM_000719.7(CACNA1C):c.3752T>C (p.Met1251Thr) rs1431157754 0.00002
NM_000719.7(CACNA1C):c.460G>A (p.Ala154Thr) rs1064796583 0.00002
NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr) rs368700869 0.00002
NM_000719.7(CACNA1C):c.512C>T (p.Thr171Met) rs199586997 0.00002
NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val) rs201049603 0.00002
NM_000719.7(CACNA1C):c.5329C>T (p.Arg1777Cys) rs775251529 0.00002
NM_000719.7(CACNA1C):c.5398C>T (p.Pro1800Ser) rs921032597 0.00002
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=) rs527741368 0.00002
NM_000719.7(CACNA1C):c.70C>T (p.Arg24Cys) rs773211348 0.00002
NM_000719.7(CACNA1C):c.71G>A (p.Arg24His) rs200941579 0.00002
NM_000719.7(CACNA1C):c.989C>T (p.Thr330Met) rs377345545 0.00002
NM_000719.7(CACNA1C):c.1097C>T (p.Thr366Met) rs1429990170 0.00001
NM_000719.7(CACNA1C):c.1113+4C>T rs747800763 0.00001
NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala) rs1057518456 0.00001
NM_000719.7(CACNA1C):c.1384C>G (p.Arg462Gly) rs761430418 0.00001
NM_000719.7(CACNA1C):c.1435G>A (p.Val479Met) rs752677964 0.00001
NM_000719.7(CACNA1C):c.1453G>A (p.Glu485Lys) rs763065970 0.00001
NM_000719.7(CACNA1C):c.1481C>T (p.Ala494Val) rs762879256 0.00001
NM_000719.7(CACNA1C):c.1516T>G (p.Trp506Gly) rs975289385 0.00001
NM_000719.7(CACNA1C):c.1703C>T (p.Thr568Met) rs749561588 0.00001
NM_000719.7(CACNA1C):c.1752C>T (p.Phe584=) rs886043677 0.00001
NM_000719.7(CACNA1C):c.1768C>T (p.Arg590Cys) rs776145143 0.00001
NM_000719.7(CACNA1C):c.1864G>A (p.Val622Ile) rs768270021 0.00001
NM_000719.7(CACNA1C):c.2068G>A (p.Asp690Asn) rs369638898 0.00001
NM_000719.7(CACNA1C):c.2073C>T (p.Asn691=) rs794727117 0.00001
NM_000719.7(CACNA1C):c.230G>T (p.Ser77Ile) rs536377458 0.00001
NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met) rs749031775 0.00001
NM_000719.7(CACNA1C):c.2390G>C (p.Gly797Ala) rs1200916501 0.00001
NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys) rs774002530 0.00001
NM_000719.7(CACNA1C):c.2569C>G (p.Pro857Ala) rs1391136601 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_000719.7(CACNA1C):c.257A>G (p.Tyr86Cys) rs768230910 0.00001
NM_000719.7(CACNA1C):c.2975A>G (p.Asn992Ser) rs1555878870 0.00001
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) rs761378545 0.00001
NM_000719.7(CACNA1C):c.3220A>G (p.Ile1074Val) rs786205779 0.00001
NM_000719.7(CACNA1C):c.3235G>A (p.Gly1079Arg) rs781440831 0.00001
NM_000719.7(CACNA1C):c.3258C>T (p.Ile1086=) rs757290350 0.00001
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile) rs766023530 0.00001
NM_000719.7(CACNA1C):c.3375C>T (p.Ile1125=) rs398123521 0.00001
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln) rs368861681 0.00001
NM_000719.7(CACNA1C):c.3599G>A (p.Arg1200Gln) rs369686855 0.00001
NM_000719.7(CACNA1C):c.363C>T (p.Val121=) rs886042281 0.00001
NM_000719.7(CACNA1C):c.3691C>T (p.Leu1231Phe) rs766971426 0.00001
NM_000719.7(CACNA1C):c.3790G>A (p.Val1264Met) rs760543068 0.00001
NM_000719.7(CACNA1C):c.37G>A (p.Glu13Lys) rs754656999 0.00001
NM_000719.7(CACNA1C):c.3874G>T (p.Val1292Leu) rs777138966 0.00001
NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr) rs749588699 0.00001
NM_000719.7(CACNA1C):c.4040G>A (p.Arg1347Gln) rs777058699 0.00001
NM_000719.7(CACNA1C):c.4309C>T (p.Pro1437Ser) rs398123522 0.00001
NM_000719.7(CACNA1C):c.4790G>C (p.Ser1597Thr) rs1356292633 0.00001
NM_000719.7(CACNA1C):c.4927C>T (p.Pro1643Ser) rs786205764 0.00001
NM_000719.7(CACNA1C):c.5044G>A (p.Ala1682Thr) rs746554838 0.00001
NM_000719.7(CACNA1C):c.5137G>A (p.Asp1713Asn) rs747708938 0.00001
NM_000719.7(CACNA1C):c.5162C>G (p.Thr1721Ser) rs554737427 0.00001
NM_000719.7(CACNA1C):c.5164T>G (p.Phe1722Val) rs751493277 0.00001
NM_000719.7(CACNA1C):c.5202C>T (p.Gly1734=) rs769124319 0.00001
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys) rs371760034 0.00001
NM_000719.7(CACNA1C):c.53C>T (p.Ser18Phe) rs1216229121 0.00001
NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala) rs375846068 0.00001
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=) rs757373786 0.00001
NM_000719.7(CACNA1C):c.6050T>C (p.Met2017Thr) rs786205742 0.00001
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=) rs750835120 0.00001
NM_000719.7(CACNA1C):c.609G>A (p.Val203=) rs1417477759 0.00001
NM_000719.7(CACNA1C):c.6197C>T (p.Ala2066Val) rs1216146146 0.00001
NM_000719.7(CACNA1C):c.6338A>C (p.Asp2113Ala) rs972053240 0.00001
NM_000719.7(CACNA1C):c.792C>A (p.Ala264=) rs750459136 0.00001
NM_000719.7(CACNA1C):c.91A>G (p.Asn31Asp) rs531598856 0.00001
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) rs535608443 0.00001
NM_001167623.2(CACNA1C):c.3871G>A (p.Val1291Ile) rs786205760 0.00001
NM_001167623.2(CACNA1C):c.3912+1G>A rs786205761 0.00001
GRCh37/hg19 12p13.33(chr12:2162777-2800066)x1
GRCh37/hg19 12p13.33(chr12:2218209-2554428)x3
GRCh37/hg19 12p13.33(chr12:2315926-2674054)x3
GRCh37/hg19 12p13.33(chr12:2387098-2740808)x3
GRCh37/hg19 12p13.33(chr12:2791716-2791844)x3
GRCh37/hg19 12p13.33(chr12:2794031-2844076)x3
GRCh37/hg19 12p13.33(chr12:2794331-2851075)x1
NM_000719.7(CACNA1C):c.-2C>T
NM_000719.7(CACNA1C):c.1031C>T (p.Thr344Ile) rs200935321
NM_000719.7(CACNA1C):c.1052T>A (p.Phe351Tyr) rs1555672376
NM_000719.7(CACNA1C):c.1064C>T (p.Thr355Met) rs538694667
NM_000719.7(CACNA1C):c.1102G>A (p.Val368Met)
NM_000719.7(CACNA1C):c.1118A>G (p.Asn373Ser)
NM_000719.7(CACNA1C):c.1138T>G (p.Trp380Gly) rs2154577561
NM_000719.7(CACNA1C):c.1141C>T (p.Pro381Ser) rs786205775
NM_000719.7(CACNA1C):c.1204G>C (p.Gly402Arg) rs80315385
NM_000719.7(CACNA1C):c.1218-6C>T rs727503833
NM_000719.7(CACNA1C):c.1253G>C (p.Arg418Pro) rs398123516
NM_000719.7(CACNA1C):c.1255G>A (p.Gly419Arg) rs786205776
NM_000719.7(CACNA1C):c.125A>G (p.His42Arg) rs2154136915
NM_000719.7(CACNA1C):c.1274G>A (p.Arg425Gln) rs1430516663
NM_000719.7(CACNA1C):c.1366A>C (p.Met456Leu) rs746887726
NM_000719.7(CACNA1C):c.1372G>A (p.Glu458Lys)
NM_000719.7(CACNA1C):c.1381C>G (p.Pro461Ala) rs776242172
NM_000719.7(CACNA1C):c.1385G>A (p.Arg462Gln) rs794727961
NM_000719.7(CACNA1C):c.1407T>G (p.Ser469Arg)
NM_000719.7(CACNA1C):c.1420G>T (p.Val474Phe) rs765581751
NM_000719.7(CACNA1C):c.1481+621C>T rs200329394
NM_000719.7(CACNA1C):c.14A>G (p.Asn5Ser) rs1555075958
NM_000719.7(CACNA1C):c.1532G>A (p.Arg511Gln) rs786205747
NM_000719.7(CACNA1C):c.1630G>A (p.Glu544Lys)
NM_000719.7(CACNA1C):c.1672A>G (p.Thr558Ala) rs2154593415
NM_000719.7(CACNA1C):c.1697T>C (p.Leu566Pro)
NM_000719.7(CACNA1C):c.1753G>T (p.Val585Leu) rs763738559
NM_000719.7(CACNA1C):c.175G>T (p.Ala59Ser) rs786205766
NM_000719.7(CACNA1C):c.1841T>G (p.Leu614Arg) rs1057518994
NM_000719.7(CACNA1C):c.1917C>G (p.Asn639Lys) rs1057524804
NM_000719.7(CACNA1C):c.1931T>G (p.Leu644Trp) rs786205749
NM_000719.7(CACNA1C):c.1A>G (p.Met1Val) rs931964122
NM_000719.7(CACNA1C):c.2024G>A (p.Gly675Glu) rs2153223856
NM_000719.7(CACNA1C):c.2024G>C (p.Gly675Ala)
NM_000719.7(CACNA1C):c.2074T>A (p.Phe692Ile) rs2060548431
NM_000719.7(CACNA1C):c.2113G>A (p.Gly705Arg) rs786205750
NM_000719.7(CACNA1C):c.211G>A (p.Ala71Thr) rs1064796234
NM_000719.7(CACNA1C):c.2124G>A (p.Trp708Ter) rs1555828602
NM_000719.7(CACNA1C):c.2234T>C (p.Leu745Pro) rs398123518
NM_000719.7(CACNA1C):c.2251A>G (p.Ile751Val) rs794727167
NM_000719.7(CACNA1C):c.2269G>C (p.Ala757Pro) rs560163331
NM_000719.7(CACNA1C):c.2296C>A (p.Gln766Lys)
NM_000719.7(CACNA1C):c.2302G>A (p.Glu768Lys) rs2153229485
NM_000719.7(CACNA1C):c.2311GAG[1] (p.Glu772del) rs786205770
NM_000719.7(CACNA1C):c.239_244delinsTTGCAGCTCC (p.Gln80fs) rs2154137096
NM_000719.7(CACNA1C):c.2404G>A (p.Glu802Lys) rs1555835003
NM_000719.7(CACNA1C):c.242G>A (p.Arg81Gln) rs786205767
NM_000719.7(CACNA1C):c.2467A>G (p.Met823Val) rs786205752
NM_000719.7(CACNA1C):c.2530+1G>A
NM_000719.7(CACNA1C):c.2536G>A (p.Glu846Lys) rs1295351612
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.2575C>T (p.Pro859Ser) rs2153339297
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_000719.7(CACNA1C):c.2581C>T (p.Pro861Ser) rs786205754
NM_000719.7(CACNA1C):c.2584C>T (p.Leu862Phe) rs2153339402
NM_000719.7(CACNA1C):c.2636C>T (p.Ala879Val) rs1199713333
NM_000719.7(CACNA1C):c.2650A>C (p.Ser884Arg) rs777391300
NM_000719.7(CACNA1C):c.2663+1G>A rs2153339994
NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His) rs786205755
NM_000719.7(CACNA1C):c.2734C>A (p.Leu912Ile) rs786205264
NM_000719.7(CACNA1C):c.2794-3C>T
NM_000719.7(CACNA1C):c.2825C>G (p.Thr942Ser)
NM_000719.7(CACNA1C):c.2827A>G (p.Ile943Val) rs786205757
NM_000719.7(CACNA1C):c.2853+155G>A
NM_000719.7(CACNA1C):c.2854-11C>G rs2153406175
NM_000719.7(CACNA1C):c.2935G>A (p.Val979Met) rs1555874590
NM_000719.7(CACNA1C):c.3001C>T (p.Arg1001Ter) rs1555879031
NM_000719.7(CACNA1C):c.3020G>C (p.Arg1007Thr)
NM_000719.7(CACNA1C):c.3050A>G (p.His1017Arg) rs2153426949
NM_000719.7(CACNA1C):c.3061T>C (p.Cys1021Arg) rs1057518301
NM_000719.7(CACNA1C):c.3073G>A (p.Ala1025Thr)
NM_000719.7(CACNA1C):c.3106A>G (p.Thr1036Ala) rs2153427070
NM_000719.7(CACNA1C):c.3265C>T (p.Arg1089Cys) rs2075701336
NM_000719.7(CACNA1C):c.3357G>C (p.Glu1119Asp) rs1555884341
NM_000719.7(CACNA1C):c.3373A>G (p.Ile1125Val) rs727503834
NM_000719.7(CACNA1C):c.3376G>A (p.Asp1126Asn)
NM_000719.7(CACNA1C):c.3461C>T (p.Ala1154Val) rs786205758
NM_000719.7(CACNA1C):c.3462C>A (p.Ala1154=)
NM_000719.7(CACNA1C):c.3483C>G (p.Phe1161Leu)
NM_000719.7(CACNA1C):c.3484G>C (p.Val1162Leu) rs2076324884
NM_000719.7(CACNA1C):c.3493G>A (p.Val1165Ile)
NM_000719.7(CACNA1C):c.3499G>A (p.Val1167Ile) rs2076328331
NM_000719.7(CACNA1C):c.3577G>A (p.Ala1193Thr) rs1251955384
NM_000719.7(CACNA1C):c.3606C>G (p.Tyr1202Ter) rs895560697
NM_000719.7(CACNA1C):c.3628T>C (p.Tyr1210His) rs2153449886
NM_000719.7(CACNA1C):c.362T>C (p.Val121Ala) rs2154137228
NM_000719.7(CACNA1C):c.3631A>G (p.Lys1211Glu) rs786205759
NM_000719.7(CACNA1C):c.3671del (p.Leu1224fs) rs886043670
NM_000719.7(CACNA1C):c.3678C>G (p.Phe1226Leu) rs775309900
NM_000719.7(CACNA1C):c.3701T>A (p.Ile1234Asn) rs786205780
NM_000719.7(CACNA1C):c.3712A>G (p.Met1238Val) rs2077233710
NM_000719.7(CACNA1C):c.3724G>A (p.Gly1242Ser) rs1131691881
NM_000719.7(CACNA1C):c.3748G>T (p.Ala1250Ser) rs373930708
NM_000719.7(CACNA1C):c.3751A>G (p.Met1251Val)
NM_000719.7(CACNA1C):c.3830A>G (p.His1277Arg)
NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr) rs367895193
NM_000719.7(CACNA1C):c.3894A>G (p.Ile1298Met) rs2153572525
NM_000719.7(CACNA1C):c.3929A>C (p.Gln1310Pro)
NM_000719.7(CACNA1C):c.3930A>T (p.Gln1310His) rs369262825
NM_000719.7(CACNA1C):c.3946-21_3946-19del
NM_000719.7(CACNA1C):c.3946-44C>T rs760982440
NM_000719.7(CACNA1C):c.3962C>T (p.Ser1321Phe) rs779278894
NM_000719.7(CACNA1C):c.3977C>T (p.Thr1326Ile)
NM_000719.7(CACNA1C):c.3G>C (p.Met1Ile)
NM_000719.7(CACNA1C):c.4004G>C (p.Arg1335Pro)
NM_000719.7(CACNA1C):c.4022G>T (p.Ser1341Ile)
NM_000719.7(CACNA1C):c.4025G>A (p.Arg1342His) rs1365999989
NM_000719.7(CACNA1C):c.4100T>C (p.Ile1367Thr)
NM_000719.7(CACNA1C):c.4101C>G (p.Ile1367Met) rs201174821
NM_000719.7(CACNA1C):c.4102G>T (p.Val1368Leu) rs1234874360
NM_000719.7(CACNA1C):c.4216G>A (p.Val1406Met) rs753204879
NM_000719.7(CACNA1C):c.4279C>G (p.Pro1427Ala) rs2153706726
NM_000719.7(CACNA1C):c.4567C>T (p.Arg1523Trp)
NM_000719.7(CACNA1C):c.4657G>A (p.Asp1553Asn) rs2153729186
NM_000719.7(CACNA1C):c.4727-6C>T rs886042224
NM_000719.7(CACNA1C):c.4760C>A (p.Ala1587Glu)
NM_000719.7(CACNA1C):c.4760C>T (p.Ala1587Val) rs751224055
NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn) rs786205763
NM_000719.7(CACNA1C):c.481C>T (p.Arg161Ter) rs1555599537
NM_000719.7(CACNA1C):c.4828+1G>A rs2153757423
NM_000719.7(CACNA1C):c.4858G>A (p.Ala1620Thr) rs2096864308
NM_000719.7(CACNA1C):c.4862C>T (p.Thr1621Met) rs2153787309
NM_000719.7(CACNA1C):c.49+1G>A rs2154502706
NM_000719.7(CACNA1C):c.4910_4912del (p.Gln1637_Gly1638delinsArg) rs786205772
NM_000719.7(CACNA1C):c.4957-1G>A
NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg) rs778011390
NM_000719.7(CACNA1C):c.5026GAG[2] (p.Glu1678del) rs786205773
NM_000719.7(CACNA1C):c.502A>G (p.Ile168Val)
NM_000719.7(CACNA1C):c.5033A>G (p.Glu1678Gly) rs786205781
NM_000719.7(CACNA1C):c.5091+1G>A rs2153791497
NM_000719.7(CACNA1C):c.5098G>C (p.Gly1700Arg) rs761966966
NM_000719.7(CACNA1C):c.5116C>G (p.His1706Asp) rs949737894
NM_000719.7(CACNA1C):c.5118C>G (p.His1706Gln)
NM_000719.7(CACNA1C):c.5128T>A (p.Tyr1710Asn)
NM_000719.7(CACNA1C):c.5147_5186dup (p.His1729fs) rs1556099231
NM_000719.7(CACNA1C):c.5177G>A (p.Arg1726His) rs377564636
NM_000719.7(CACNA1C):c.5180C>T (p.Pro1727Leu) rs2153803252
NM_000719.7(CACNA1C):c.5201del (p.Gly1734fs) rs1556105540
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5294C>T (p.Ala1765Val)
NM_000719.7(CACNA1C):c.5299A>G (p.Ile1767Val) rs2153803721
NM_000719.7(CACNA1C):c.5350_5386del (p.Tyr1784fs) rs2153803935
NM_000719.7(CACNA1C):c.536T>C (p.Ile179Thr) rs1309430190
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro) rs201918158
NM_000719.7(CACNA1C):c.5435G>A (p.Ser1812Asn) rs1556123007
NM_000719.7(CACNA1C):c.5444+613C>G
NM_000719.7(CACNA1C):c.5444+623G>A rs750528395
NM_000719.7(CACNA1C):c.5444+680A>G rs2153807931
NM_000719.7(CACNA1C):c.5476_5490dup (p.Glu1830_Thr1831insAlaGlyGlnGluGlu)
NM_000719.7(CACNA1C):c.5573+5G>C rs786205768
NM_000719.7(CACNA1C):c.5619GGA[1] (p.Glu1874del) rs757172314
NM_000719.7(CACNA1C):c.5706A>G (p.Glu1902=) rs537002656
NM_000719.7(CACNA1C):c.5728C>T (p.Arg1910Ter) rs1556291640
NM_000719.7(CACNA1C):c.5938A>G (p.Ser1980Gly)
NM_000719.7(CACNA1C):c.5956A>G (p.Ser1986Gly) rs2153866077
NM_000719.7(CACNA1C):c.6122dup (p.Leu2041fs) rs2153890970
NM_000719.7(CACNA1C):c.617+1G>A rs2154562886
NM_000719.7(CACNA1C):c.620T>G (p.Leu207Arg) rs2154564925
NM_000719.7(CACNA1C):c.6271A>G (p.Asn2091Asp) rs1603473411
NM_000719.7(CACNA1C):c.6302G>A (p.Arg2101Lys) rs2153891904
NM_000719.7(CACNA1C):c.6325G>A (p.Gly2109Arg)
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs) rs771708175
NM_000719.7(CACNA1C):c.6359G>T (p.Arg2120Leu)
NM_000719.7(CACNA1C):c.688G>A (p.Gly230Arg)
NM_000719.7(CACNA1C):c.713C>G (p.Ala238Gly)
NM_000719.7(CACNA1C):c.728G>A (p.Arg243His)
NM_000719.7(CACNA1C):c.823G>C (p.Val275Leu)
NM_000719.7(CACNA1C):c.835A>G (p.Ile279Val) rs1447529441
NM_000719.7(CACNA1C):c.847G>A (p.Ala283Thr)
NM_000719.7(CACNA1C):c.944C>T (p.Pro315Leu) rs2154571830
NM_000719.7(CACNA1C):c.950C>T (p.Ala317Val) rs533892755
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) rs786205744
NM_001167623.2(CACNA1C):c.1160G>C (p.Ser387Thr) rs2154577329
NM_001167623.2(CACNA1C):c.1165G>A (p.Val389Ile) rs202180580

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