ClinVar Miner

List of variants in gene CACNA1C studied for not provided

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Gene type:
ClinVar version:
Total variants: 214
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HGVS dbSNP
GRCh37/hg19 12p13.33(chr12:2198588-2255327)x1
GRCh37/hg19 12p13.33(chr12:2198827-2216588)x1
GRCh37/hg19 12p13.33(chr12:2235940-2382140)x1
GRCh37/hg19 12p13.33(chr12:2245636-2269588)x1
GRCh37/hg19 12p13.33(chr12:2387098-2740808)x3
NM_000719.6(CACNA1C):c.101C>T (p.Ala34Val) rs551396698
NM_000719.6(CACNA1C):c.1031C>T (p.Thr344Ile) rs200935321
NM_000719.6(CACNA1C):c.1052T>A (p.Phe351Tyr) rs1555672376
NM_000719.6(CACNA1C):c.1097C>T (p.Thr366Met) rs1429990170
NM_000719.6(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613
NM_000719.6(CACNA1C):c.1113+4C>T rs747800763
NM_000719.6(CACNA1C):c.1114-10G>A rs371725005
NM_000719.6(CACNA1C):c.1114-355G>A rs202180580
NM_000719.6(CACNA1C):c.1141C>T (p.Pro381Ser) rs786205775
NM_000719.6(CACNA1C):c.1204G>A (p.Gly402Ser) rs80315385
NM_000719.6(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.6(CACNA1C):c.1218-6C>T rs727503833
NM_000719.6(CACNA1C):c.1253G>C (p.Arg418Pro) rs398123516
NM_000719.6(CACNA1C):c.1255G>A (p.Gly419Arg) rs786205776
NM_000719.6(CACNA1C):c.1341C>T (p.Ile447=) rs377643814
NM_000719.6(CACNA1C):c.1342G>A (p.Asp448Asn) rs786205746
NM_000719.6(CACNA1C):c.1359C>T (p.Asp453=) rs200330469
NM_000719.6(CACNA1C):c.1366A>C (p.Met456Leu) rs746887726
NM_000719.6(CACNA1C):c.1385G>A (p.Arg462Gln) rs794727961
NM_000719.6(CACNA1C):c.1420G>T (p.Val474Phe) rs765581751
NM_000719.6(CACNA1C):c.1428C>T (p.Thr476=) rs750843602
NM_000719.6(CACNA1C):c.1453G>A (p.Glu485Lys) rs763065970
NM_000719.6(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000719.6(CACNA1C):c.1481+621C>T rs200329394
NM_000719.6(CACNA1C):c.1481C>T (p.Ala494Val) rs762879256
NM_000719.6(CACNA1C):c.1485C>A (p.His495Gln) rs373335068
NM_000719.6(CACNA1C):c.1486C>T (p.Arg496Trp) rs760888275
NM_000719.6(CACNA1C):c.14A>G (p.Asn5Ser) rs1555075958
NM_000719.6(CACNA1C):c.1509-12T>G rs200412525
NM_000719.6(CACNA1C):c.1532G>A (p.Arg511Gln) rs786205747
NM_000719.6(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_000719.6(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711
NM_000719.6(CACNA1C):c.1554C>T (p.Arg518=) rs398123517
NM_000719.6(CACNA1C):c.1555G>A (p.Ala519Thr) rs371702432
NM_000719.6(CACNA1C):c.1693G>A (p.Ala565Thr) rs777945001
NM_000719.6(CACNA1C):c.169G>A (p.Asp57Asn) rs773528195
NM_000719.6(CACNA1C):c.1703C>T (p.Thr568Met) rs749561588
NM_000719.6(CACNA1C):c.1707A>G (p.Ala569=) rs375534041
NM_000719.6(CACNA1C):c.175G>T (p.Ala59Ser) rs786205766
NM_000719.6(CACNA1C):c.1783G>A (p.Val595Ile) rs201392574
NM_000719.6(CACNA1C):c.1823C>T (p.Thr608Ile) rs757507674
NM_000719.6(CACNA1C):c.1841T>G (p.Leu614Arg) rs1057518994
NM_000719.6(CACNA1C):c.1864G>A (p.Val622Ile) rs768270021
NM_000719.6(CACNA1C):c.1917C>G (p.Asn639Lys) rs1057524804
NM_000719.6(CACNA1C):c.1931T>G (p.Leu644Trp) rs786205749
NM_000719.6(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790
NM_000719.6(CACNA1C):c.2068G>A (p.Asp690Asn) rs369638898
NM_000719.6(CACNA1C):c.2073C>T (p.Asn691=) rs794727117
NM_000719.6(CACNA1C):c.2113G>A (p.Gly705Arg) rs786205750
NM_000719.6(CACNA1C):c.211G>A (p.Ala71Thr) rs1064796234
NM_000719.6(CACNA1C):c.213G>A (p.Ala71=) rs113869350
NM_000719.6(CACNA1C):c.2229C>T (p.Ile743=) rs759734767
NM_000719.6(CACNA1C):c.2234T>C (p.Leu745Pro) rs398123518
NM_000719.6(CACNA1C):c.2251A>G (p.Ile751Val) rs794727167
NM_000719.6(CACNA1C):c.2280G>A (p.Glu760=) rs141633456
NM_000719.6(CACNA1C):c.2327A>G (p.Lys776Arg) rs786205751
NM_000719.6(CACNA1C):c.2350C>T (p.Pro784Ser) rs749935207
NM_000719.6(CACNA1C):c.236C>T (p.Thr79Met) rs749031775
NM_000719.6(CACNA1C):c.2391G>A (p.Gly797=) rs374857905
NM_000719.6(CACNA1C):c.2396C>A (p.Ser799Tyr) rs398123519
NM_000719.6(CACNA1C):c.242G>A (p.Arg81Gln) rs786205767
NM_000719.6(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048
NM_000719.6(CACNA1C):c.2467A>G (p.Met823Val) rs786205752
NM_000719.6(CACNA1C):c.2517C>A (p.Asn839Lys) rs774002530
NM_000719.6(CACNA1C):c.2566G>A (p.Gly856Ser) rs145549773
NM_000719.6(CACNA1C):c.2578C>G (p.Arg860Gly) rs758786846
NM_000719.6(CACNA1C):c.257A>G (p.Tyr86Cys) rs768230910
NM_000719.6(CACNA1C):c.2581C>T (p.Pro861Ser) rs786205754
NM_000719.6(CACNA1C):c.2684G>A (p.Arg895His) rs786205755
NM_000719.6(CACNA1C):c.2734C>A (p.Leu912Ile) rs786205264
NM_000719.6(CACNA1C):c.2766G>A (p.Pro922=) rs184684058
NM_000719.6(CACNA1C):c.2795T>C (p.Ile932Thr) rs786205756
NM_000719.6(CACNA1C):c.2813T>C (p.Ile938Thr) rs377165829
NM_000719.6(CACNA1C):c.2827A>G (p.Ile943Val) rs786205757
NM_000719.6(CACNA1C):c.2854-4G>A rs113929946
NM_000719.6(CACNA1C):c.2935G>A (p.Val979Met) rs1555874590
NM_000719.6(CACNA1C):c.2975A>G (p.Asn992Ser) rs1555878870
NM_000719.6(CACNA1C):c.2977G>C (p.Val993Leu) rs1555878893
NM_000719.6(CACNA1C):c.2T>C (p.Met1Thr) rs761378545
NM_000719.6(CACNA1C):c.3049-10C>T rs186741807
NM_000719.6(CACNA1C):c.3156+6G>C rs398123520
NM_000719.6(CACNA1C):c.3200C>T (p.Ala1067Val) rs750998195
NM_000719.6(CACNA1C):c.3220A>G (p.Ile1074Val) rs786205779
NM_000719.6(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207
NM_000719.6(CACNA1C):c.3258C>T (p.Ile1086=) rs757290350
NM_000719.6(CACNA1C):c.3295G>A (p.Asp1099Asn) rs771549676
NM_000719.6(CACNA1C):c.3357G>C (p.Glu1119Asp) rs1555884341
NM_000719.6(CACNA1C):c.3373A>G (p.Ile1125Val) rs727503834
NM_000719.6(CACNA1C):c.3375C>T (p.Ile1125=) rs398123521
NM_000719.6(CACNA1C):c.3424A>C (p.Ile1142Leu) rs752247655
NM_000719.6(CACNA1C):c.3461C>T (p.Ala1154Val) rs786205758
NM_000719.6(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651
NM_000719.6(CACNA1C):c.3560G>A (p.Arg1187Gln) rs368861681
NM_000719.6(CACNA1C):c.3631A>G (p.Lys1211Glu) rs786205759
NM_000719.6(CACNA1C):c.363C>T (p.Val121=) rs886042281
NM_000719.6(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008
NM_000719.6(CACNA1C):c.3671delT (p.Leu1224Argfs) rs886043670
NM_000719.6(CACNA1C):c.3678C>G (p.Phe1226Leu) rs775309900
NM_000719.6(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557
NM_000719.6(CACNA1C):c.3701T>A (p.Ile1234Asn) rs786205780
NM_000719.6(CACNA1C):c.3717+1_3717+2insA rs1555887068
NM_000719.6(CACNA1C):c.3724G>A (p.Gly1242Ser) rs1131691881
NM_000719.6(CACNA1C):c.3747C>T (p.Ile1249=) rs370576211
NM_000719.6(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230
NM_000719.6(CACNA1C):c.3829-584G>A rs786205761
NM_000719.6(CACNA1C):c.3829-626G>A rs786205760
NM_000719.6(CACNA1C):c.3862G>A (p.Ala1288Thr) rs367895193
NM_000719.6(CACNA1C):c.3874G>T (p.Val1292Leu) rs777138966
NM_000719.6(CACNA1C):c.3930A>T (p.Gln1310His) rs369262825
NM_000719.6(CACNA1C):c.3946-12G>A rs41276706
NM_000719.6(CACNA1C):c.3946-44C>T rs760982440
NM_000719.6(CACNA1C):c.3946-45C>G rs201551454
NM_000719.6(CACNA1C):c.3946-51C>T rs202216172
NM_000719.6(CACNA1C):c.3962C>T (p.Ser1321Phe) rs779278894
NM_000719.6(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843
NM_000719.6(CACNA1C):c.4040G>A (p.Arg1347Gln) rs777058699
NM_000719.6(CACNA1C):c.4087G>A (p.Val1363Met) rs1555968941
NM_000719.6(CACNA1C):c.4140+4G>A rs111442547
NM_000719.6(CACNA1C):c.4216G>A (p.Val1406Met) rs753204879
NM_000719.6(CACNA1C):c.4309C>T (p.Pro1437Ser) rs398123522
NM_000719.6(CACNA1C):c.4322C>T (p.Thr1441Met) rs727503835
NM_000719.6(CACNA1C):c.4418C>G (p.Ala1473Gly) rs794727587
NM_000719.6(CACNA1C):c.460G>A (p.Ala154Thr) rs1064796583
NM_000719.6(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466
NM_000719.6(CACNA1C):c.4624-8G>A rs529345041
NM_000719.6(CACNA1C):c.4641C>T (p.Asn1547=) rs202194703
NM_000719.6(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568
NM_000719.6(CACNA1C):c.4727-10C>T rs749903718
NM_000719.6(CACNA1C):c.4760C>T (p.Ala1587Val) rs751224055
NM_000719.6(CACNA1C):c.4773G>T (p.Lys1591Asn) rs786205763
NM_000719.6(CACNA1C):c.4910_4912delAGG (p.Gln1637_Gly1638delinsArg) rs786205772
NM_000719.6(CACNA1C):c.4927C>T (p.Pro1643Ser) rs786205764
NM_000719.6(CACNA1C):c.4942G>A (p.Ala1648Thr) rs370432385
NM_000719.6(CACNA1C):c.4984G>A (p.Gly1662Arg) rs778011390
NM_000719.6(CACNA1C):c.50-3C>T rs780161540
NM_000719.6(CACNA1C):c.5032_5034delGAG (p.Glu1678del) rs786205773
NM_000719.6(CACNA1C):c.5033A>G (p.Glu1678Gly) rs786205781
NM_000719.6(CACNA1C):c.5065G>A (p.Ala1689Thr) rs368700869
NM_000719.6(CACNA1C):c.5091+8G>A rs768117202
NM_000719.6(CACNA1C):c.5106G>A (p.Leu1702=) rs541967618
NM_000719.6(CACNA1C):c.5120T>C (p.Val1707Ala) rs531161884
NM_000719.6(CACNA1C):c.512C>T (p.Thr171Met) rs199586997
NM_000719.6(CACNA1C):c.5137G>A (p.Asp1713Asn) rs747708938
NM_000719.6(CACNA1C):c.5138A>G (p.Asp1713Gly) rs769297492
NM_000719.6(CACNA1C):c.5140G>A (p.Gly1714Ser) rs533676935
NM_000719.6(CACNA1C):c.5144G>A (p.Arg1715Gln) rs376706496
NM_000719.6(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706
NM_000719.6(CACNA1C):c.5198C>T (p.Ala1733Val) rs201049603
NM_000719.6(CACNA1C):c.5201delG (p.Gly1734Alafs) rs1556105540
NM_000719.6(CACNA1C):c.5202C>T (p.Gly1734=) rs769124319
NM_000719.6(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.6(CACNA1C):c.5307C>T (p.Asn1769=) rs530924728
NM_000719.6(CACNA1C):c.5329C>T (p.Arg1777Cys) rs775251529
NM_000719.6(CACNA1C):c.5338C>T (p.Arg1780Cys) rs371760034
NM_000719.6(CACNA1C):c.5360C>T (p.Thr1787Met) rs192749597
NM_000719.6(CACNA1C):c.5383G>A (p.Gly1795Arg) rs111298509
NM_000719.6(CACNA1C):c.538G>A (p.Ala180Thr) rs786205769
NM_000719.6(CACNA1C):c.53C>T (p.Ser18Phe)
NM_000719.6(CACNA1C):c.5408G>C (p.Arg1803Pro) rs201918158
NM_000719.6(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881
NM_000719.6(CACNA1C):c.5435G>A (p.Ser1812Asn) rs1556123007
NM_000719.6(CACNA1C):c.5444+599C>A rs551355331
NM_000719.6(CACNA1C):c.5451C>T (p.His1817=) rs113239186
NM_000719.6(CACNA1C):c.5529T>C (p.His1843=) rs371831239
NM_000719.6(CACNA1C):c.5573+5G>C rs786205768
NM_000719.6(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_000719.6(CACNA1C):c.5604A>G (p.Gln1868=) rs11062316
NM_000719.6(CACNA1C):c.5609C>T (p.Thr1870Met) rs201777030
NM_000719.6(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896
NM_000719.6(CACNA1C):c.5644T>C (p.Ser1882Pro) rs369438564
NM_000719.6(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586
NM_000719.6(CACNA1C):c.5671G>C (p.Ala1891Pro) rs542914369
NM_000719.6(CACNA1C):c.5706A>G (p.Glu1902=) rs537002656
NM_000719.6(CACNA1C):c.5728C>T (p.Arg1910Ter) rs1556291640
NM_000719.6(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680
NM_000719.6(CACNA1C):c.5772G>C (p.Leu1924=) rs757373786
NM_000719.6(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325
NM_000719.6(CACNA1C):c.5931C>T (p.Val1977=) rs757236915
NM_000719.6(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660
NM_000719.6(CACNA1C):c.6090C>T (p.His2030=) rs750835120
NM_000719.6(CACNA1C):c.6116C>G (p.Ala2039Gly) rs549476254
NM_000719.6(CACNA1C):c.6161A>G (p.Lys2054Arg) rs200588235
NM_000719.6(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446
NM_000719.6(CACNA1C):c.6329dupG (p.Glu2111Argfs) rs771708175
NM_000719.6(CACNA1C):c.6338A>C (p.Asp2113Ala) rs972053240
NM_000719.6(CACNA1C):c.6344G>C (p.Gly2115Ala) rs199694744
NM_000719.6(CACNA1C):c.6388G>A (p.Asp2130Asn) rs199473392
NM_000719.6(CACNA1C):c.666C>T (p.Asn222=) rs527741368
NM_000719.6(CACNA1C):c.70C>T (p.Arg24Cys) rs773211348
NM_000719.6(CACNA1C):c.724C>T (p.Leu242=) rs200800133
NM_000719.6(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421
NM_000719.6(CACNA1C):c.91A>G (p.Asn31Asp) rs531598856
NM_000719.6(CACNA1C):c.927A>G (p.Ala309=) rs369079645
NM_000719.6(CACNA1C):c.950C>T (p.Ala317Val) rs533892755
NM_000719.6(CACNA1C):c.959C>T (p.Thr320Met) rs377737331
NM_000719.6(CACNA1C):c.966C>T (p.His322=) rs112539787
NM_000719.6(CACNA1C):c.985G>A (p.Gly329Ser) rs786205744
NM_000719.6(CACNA1C):c.989C>T (p.Thr330Met) rs377345545
NM_000719.6(CACNA1C):c.98A>G (p.Asn33Ser) rs535608443
NM_001129827.1(CACNA1C):c.792C>A (p.Ala264=) rs750459136
NM_001129837.1(CACNA1C):c.4745C>T (p.Pro1582Leu) rs886042224
NM_001129838.1(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_001129840.1(CACNA1C):c.1752C>T (p.Phe584=) rs886043677
NM_001129840.1(CACNA1C):c.5147_5186dup (p.His1729Glnfs) rs1556099231
NM_001129841.1(CACNA1C):c.2548_2550delGAG (p.Glu850del) rs575583988
NM_001167623.1(CACNA1C):c.1204G>A (p.Gly402Ser) rs587782933
NM_001167623.1(CACNA1C):c.1216G>C (p.Gly406Arg) rs786205745
NM_001167625.1(CACNA1C):c.1216G>A (p.Gly406Arg) rs786205745
NM_199460.3(CACNA1C):c.71G>A (p.Arg24His) rs200941579

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