ClinVar Miner

List of variants in gene CACNA1C reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 202
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.4727-190G>A rs11062308 0.04196
NM_000719.7(CACNA1C):c.5784+199G>A rs2270372 0.03964
NM_000719.7(CACNA1C):c.1218-66G>A rs2239098 0.03942
NM_000719.7(CACNA1C):c.4074+153G>A rs45616033 0.03195
NM_000719.7(CACNA1C):c.1482-296C>G rs140903845 0.03120
NM_000719.7(CACNA1C):c.1482-177A>G rs117791272 0.02989
NM_000719.7(CACNA1C):c.1114-587G>A rs17223925 0.02407
NM_000719.7(CACNA1C):c.1669+54G>A rs2283325 0.02403
NM_000719.7(CACNA1C):c.2663+79C>T rs77802779 0.02186
NM_000719.7(CACNA1C):c.2794-136G>T rs56269265 0.01973
NM_000719.7(CACNA1C):c.3718-216G>A rs117621166 0.01907
NM_000719.7(CACNA1C):c.371+121C>T rs117659417 0.01650
NM_000719.7(CACNA1C):c.4957-48_4957-41dup rs398102378 0.01624
NM_000719.7(CACNA1C):c.1114-145A>G rs114000334 0.01517
NM_000719.7(CACNA1C):c.4624-297A>G rs73247430 0.01502
NM_000719.7(CACNA1C):c.2663+188C>T rs117244626 0.01490
NM_000719.7(CACNA1C):c.5445-186T>C rs16927954 0.01459
NM_000719.7(CACNA1C):c.5784+64C>T rs112940259 0.01445
NM_000719.7(CACNA1C):c.5092-109A>G rs113122343 0.01437
NM_000719.7(CACNA1C):c.371+230A>C rs112435887 0.01390
NM_000719.7(CACNA1C):c.4232+268G>A rs116161853 0.01370
NM_000719.7(CACNA1C):c.50-147C>T rs112230077 0.01291
NM_000719.7(CACNA1C):c.4527-151C>T rs77773628 0.01290
NM_000719.7(CACNA1C):c.4527-67C>T rs114987339 0.01042
NM_000719.7(CACNA1C):c.2853+438C>T rs542898718 0.01007
NM_000719.7(CACNA1C):c.3718-131C>T rs34766864 0.00969
NM_000719.7(CACNA1C):c.3913-300T>C rs73243593 0.00877
NM_000719.7(CACNA1C):c.3559-259C>T rs115763383 0.00872
NM_000719.7(CACNA1C):c.1113+78C>T rs112041316 0.00859
NM_000719.7(CACNA1C):c.2103+190A>G rs150289490 0.00824
NM_000719.7(CACNA1C):c.372-171C>T rs112561512 0.00766
NM_000719.7(CACNA1C):c.2854-333C>T rs114405967 0.00765
NM_000719.7(CACNA1C):c.1114-438T>G rs148469662 0.00759
NM_000719.7(CACNA1C):c.4075-159C>T rs41276708 0.00755
NM_000719.7(CACNA1C):c.3157-51T>C rs111487482 0.00727
NM_000719.7(CACNA1C):c.3209+112G>A rs112353655 0.00726
NM_000719.7(CACNA1C):c.916+21C>T rs142039612 0.00690
NM_000719.7(CACNA1C):c.3049-126C>T rs112427283 0.00670
NM_000719.7(CACNA1C):c.3945+212C>T rs143713629 0.00669
NM_000719.7(CACNA1C):c.758-38G>A rs148596266 0.00652
NM_000719.7(CACNA1C):c.5445-841_5445-840insCTC rs1162703492 0.00644
NM_000719.7(CACNA1C):c.2853+448G>A rs181538315 0.00633
NM_000719.7(CACNA1C):c.2794-229G>A rs184809240 0.00584
NM_000719.7(CACNA1C):c.1218-214C>T rs145718507 0.00583
NM_000719.7(CACNA1C):c.916+63C>T rs151143736 0.00546
NM_000719.7(CACNA1C):c.916+65C>T rs140273028 0.00515
NM_000719.7(CACNA1C):c.758-288A>G rs189856321 0.00476
NM_000719.7(CACNA1C):c.3357-27C>A rs181984259 0.00448
NM_000719.7(CACNA1C):c.1217+154G>C rs376431932 0.00446
NM_000719.7(CACNA1C):c.1113+81C>T rs115182556 0.00355
NM_000719.7(CACNA1C):c.4828+204C>T rs146745187 0.00349
NM_000719.7(CACNA1C):c.5092-40C>T rs116177151 0.00343
NM_000719.7(CACNA1C):c.3157-175C>T rs146526882 0.00338
NM_000719.7(CACNA1C):c.917-57G>A rs187330386 0.00328
NM_000719.7(CACNA1C):c.2103+140G>A rs141442943 0.00322
NM_000719.7(CACNA1C):c.4399-231C>T rs182409184 0.00285
NM_000719.7(CACNA1C):c.5092-221G>A rs188970327 0.00257
NM_000719.7(CACNA1C):c.5444+47C>A rs202196126 0.00255
NM_000719.7(CACNA1C):c.5574-21C>T rs377265606 0.00223
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_000719.7(CACNA1C):c.4141-229C>T rs759016757 0.00124
NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=) rs200638007 0.00096
NM_000719.7(CACNA1C):c.3828+177G>A rs114441162 0.00080
NM_000719.7(CACNA1C):c.3945+37G>A rs139691733 0.00071
NM_000719.7(CACNA1C):c.5445-585G>A rs113722042 0.00071
NM_000719.7(CACNA1C):c.4957-32G>A rs79058062 0.00059
NM_000719.7(CACNA1C):c.5091+17C>T rs375537358 0.00049
NM_000719.7(CACNA1C):c.2531-34G>A rs141278139 0.00048
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00037
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896 0.00036
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=) rs200847105 0.00027
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=) rs370576211 0.00025
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=) rs200283756 0.00023
NM_000719.7(CACNA1C):c.3946-12G>A rs41276706 0.00021
NM_000719.7(CACNA1C):c.1509-43A>G rs534697569 0.00019
NM_000719.7(CACNA1C):c.3913-22C>G rs150777919 0.00019
NM_000719.7(CACNA1C):c.4122C>T (p.Tyr1374=) rs146868811 0.00018
NM_000719.7(CACNA1C):c.4944G>A (p.Ala1648=) rs200330326 0.00016
NM_000719.7(CACNA1C):c.5119G>A (p.Val1707Ile) rs147896322 0.00016
NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala) rs199694744 0.00016
NM_000719.7(CACNA1C):c.4075-4C>A rs369044605 0.00013
NM_000719.7(CACNA1C):c.4829-8C>T rs370969487 0.00013
NM_000719.7(CACNA1C):c.5444+610G>A rs371574216 0.00012
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105 0.00012
NM_000719.7(CACNA1C):c.4727-9G>A rs757966245 0.00011
NM_000719.7(CACNA1C):c.6342G>A (p.Ala2114=) rs368073321 0.00010
NM_000719.7(CACNA1C):c.1332C>T (p.Ala444=) rs202027411 0.00009
NM_000719.7(CACNA1C):c.5022C>T (p.Thr1674=) rs372300407 0.00009
NM_000719.7(CACNA1C):c.5444+719G>A rs765829807 0.00009
NM_000719.7(CACNA1C):c.5550G>A (p.Glu1850=) rs367783859 0.00009
NM_000719.7(CACNA1C):c.906G>A (p.Glu302=) rs367860917 0.00009
NM_000719.7(CACNA1C):c.135C>G (p.Thr45=) rs749123185 0.00007
NM_000719.7(CACNA1C):c.2232A>C (p.Leu744=) rs370145265 0.00007
NM_000719.7(CACNA1C):c.1896-18C>A rs1056995890 0.00006
NM_000719.7(CACNA1C):c.1481+16G>A rs369604192 0.00005
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met) rs572234918 0.00005
NM_000719.7(CACNA1C):c.1686C>T (p.Ala562=) rs748256548 0.00005
NM_000719.7(CACNA1C):c.2461-3T>C rs918755208 0.00005
NM_000719.7(CACNA1C):c.3201G>A (p.Ala1067=) rs758461435 0.00005
NM_000719.7(CACNA1C):c.-28C>T rs989994685 0.00004
NM_000719.7(CACNA1C):c.1114-10G>A rs371725005 0.00004
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=) rs398123517 0.00004
NM_000719.7(CACNA1C):c.300G>A (p.Pro100=) rs764323907 0.00004
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=) rs202058956 0.00004
NM_000719.7(CACNA1C):c.4128G>A (p.Val1376=) rs377173101 0.00004
NM_000719.7(CACNA1C):c.5226G>A (p.Ser1742=) rs368281620 0.00004
NM_000719.7(CACNA1C):c.1620C>T (p.Thr540=) rs893883530 0.00003
NM_000719.7(CACNA1C):c.1669+15C>T rs774122237 0.00003
NM_000719.7(CACNA1C):c.2853+189A>G rs370050438 0.00003
NM_000719.7(CACNA1C):c.2961-5C>T rs781703710 0.00003
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651 0.00003
NM_000719.7(CACNA1C):c.3946-45C>G rs201551454 0.00003
NM_000719.7(CACNA1C):c.4050G>A (p.Leu1350=) rs371640459 0.00003
NM_000719.7(CACNA1C):c.4956+13G>A rs199753929 0.00003
NM_000719.7(CACNA1C):c.4956+16C>T rs781417944 0.00003
NM_000719.7(CACNA1C):c.50-3C>T rs780161540 0.00003
NM_000719.7(CACNA1C):c.5092-5T>C rs760689991 0.00003
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=) rs530924728 0.00003
NM_000719.7(CACNA1C):c.5444+723C>T rs750984838 0.00003
NM_000719.7(CACNA1C):c.5445-10G>A rs368236368 0.00003
NM_000719.7(CACNA1C):c.2634C>T (p.Ser878=) rs752800134 0.00002
NM_000719.7(CACNA1C):c.3789C>A (p.Thr1263=) rs765393806 0.00002
NM_000719.7(CACNA1C):c.4074+19C>T rs779341594 0.00002
NM_000719.7(CACNA1C):c.5445-17dup rs752372266 0.00002
NM_000719.7(CACNA1C):c.810C>T (p.His270=) rs780247399 0.00002
NM_000719.7(CACNA1C):c.-27T>G rs776331800 0.00001
NM_000719.7(CACNA1C):c.-3T>C rs761790520 0.00001
NM_000719.7(CACNA1C):c.1114-417C>T rs746270394 0.00001
NM_000719.7(CACNA1C):c.1356G>A (p.Glu452=) rs1257737700 0.00001
NM_000719.7(CACNA1C):c.1482-15C>T rs1057521702 0.00001
NM_000719.7(CACNA1C):c.1716C>T (p.Leu572=) rs745728974 0.00001
NM_000719.7(CACNA1C):c.1800C>T (p.Ile600=) rs1057523219 0.00001
NM_000719.7(CACNA1C):c.1806G>A (p.Glu602=) rs775181288 0.00001
NM_000719.7(CACNA1C):c.2225-8A>C rs1322731226 0.00001
NM_000719.7(CACNA1C):c.225A>C (p.Thr75=) rs756361032 0.00001
NM_000719.7(CACNA1C):c.2565C>T (p.Val855=) rs760390307 0.00001
NM_000719.7(CACNA1C):c.2664-11C>G rs767514995 0.00001
NM_000719.7(CACNA1C):c.2854-10C>G rs767334396 0.00001
NM_000719.7(CACNA1C):c.3111C>T (p.Thr1037=) rs1057520903 0.00001
NM_000719.7(CACNA1C):c.3157-16G>C rs770629047 0.00001
NM_000719.7(CACNA1C):c.3489C>G (p.Gly1163=) rs1057522786 0.00001
NM_000719.7(CACNA1C):c.3498C>T (p.Ile1166=) rs201147949 0.00001
NM_000719.7(CACNA1C):c.3718-14C>G rs1555888662 0.00001
NM_000719.7(CACNA1C):c.3723C>T (p.Tyr1241=) rs377686760 0.00001
NM_000719.7(CACNA1C):c.3978C>T (p.Thr1326=) rs1022346720 0.00001
NM_000719.7(CACNA1C):c.4074+6C>T rs762974366 0.00001
NM_000719.7(CACNA1C):c.4232+16C>A rs757493608 0.00001
NM_000719.7(CACNA1C):c.4623+20A>G rs1440822075 0.00001
NM_000719.7(CACNA1C):c.5181G>A (p.Pro1727=) rs370149297 0.00001
NM_000719.7(CACNA1C):c.5904C>T (p.Pro1968=) rs779915019 0.00001
NM_000719.7(CACNA1C):c.5929G>A (p.Val1977Ile) rs786205741 0.00001
NM_000719.7(CACNA1C):c.6050T>C (p.Met2017Thr) rs786205742 0.00001
NM_000719.7(CACNA1C):c.672C>T (p.Leu224=) rs868024886 0.00001
NM_000719.7(CACNA1C):c.757+14G>A rs753042094 0.00001
NM_000719.7(CACNA1C):c.75C>T (p.Pro25=) rs773869181 0.00001
NM_000719.7(CACNA1C):c.917-20T>C rs1228502476 0.00001
NM_000719.7(CACNA1C):c.960G>A (p.Thr320=) rs553958501 0.00001
NM_001167623.2(CACNA1C):c.1122C>T (p.Asp374=) rs374268470 0.00001
NM_000719.7(CACNA1C):c.1114-292C>G rs2238087
NM_000719.7(CACNA1C):c.135C>A (p.Thr45=) rs749123185
NM_000719.7(CACNA1C):c.1391-17C>G rs1057524174
NM_000719.7(CACNA1C):c.1508+14dup rs1428591728
NM_000719.7(CACNA1C):c.1508+20C>T rs1471165180
NM_000719.7(CACNA1C):c.1557C>T (p.Ala519=) rs186720824
NM_000719.7(CACNA1C):c.1815G>A (p.Leu605=) rs1555800189
NM_000719.7(CACNA1C):c.1851C>T (p.Ser617=) rs371654949
NM_000719.7(CACNA1C):c.2104-240G>A rs74053837
NM_000719.7(CACNA1C):c.2331G>A (p.Lys777=) rs1555833118
NM_000719.7(CACNA1C):c.2339+20C>T rs201164691
NM_000719.7(CACNA1C):c.2448A>C (p.Pro816=) rs776419844
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.2794-190G>T rs144915499
NM_000719.7(CACNA1C):c.2794-5del rs1555860850
NM_000719.7(CACNA1C):c.3087C>A (p.Ile1029=) rs151211423
NM_000719.7(CACNA1C):c.3210-52C>T rs115779848
NM_000719.7(CACNA1C):c.3559-17C>T rs897046930
NM_000719.7(CACNA1C):c.3648C>T (p.Val1216=) rs1057521327
NM_000719.7(CACNA1C):c.3822A>G (p.Lys1274=) rs1057524175
NM_000719.7(CACNA1C):c.3829-717_3829-714del rs111345392
NM_000719.7(CACNA1C):c.3946-45C>A rs201551454
NM_000719.7(CACNA1C):c.3946-46C>T rs112919597
NM_000719.7(CACNA1C):c.3946-66G>A rs786205740
NM_000719.7(CACNA1C):c.4140+77G>T rs114714957
NM_000719.7(CACNA1C):c.4141-20C>A rs934540211
NM_000719.7(CACNA1C):c.4232+18T>G rs779157902
NM_000719.7(CACNA1C):c.4527-7C>T rs1057522340
NM_000719.7(CACNA1C):c.4726+13G>A rs561365937
NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=) rs756364065
NM_000719.7(CACNA1C):c.477+227TG[18] rs112680750
NM_000719.7(CACNA1C):c.477+227TG[24] rs112680750
NM_000719.7(CACNA1C):c.477+264_477+269dup rs1555200310
NM_000719.7(CACNA1C):c.4829-67dup rs372244578
NM_000719.7(CACNA1C):c.4860C>A (p.Ala1620=) rs1057522559
NM_000719.7(CACNA1C):c.4957-12C>T rs1556045982
NM_000719.7(CACNA1C):c.5016T>C (p.Asp1672=) rs778856101
NM_000719.7(CACNA1C):c.50G>A (p.Gly17Asp) rs747083495
NM_000719.7(CACNA1C):c.5223G>A (p.Glu1741=) rs1372760091
NM_000719.7(CACNA1C):c.5444+618C>T rs1057520958
NM_000719.7(CACNA1C):c.5444+774T>C rs535388483
NM_000719.7(CACNA1C):c.615G>A (p.Val205=) rs747320984
NM_000719.7(CACNA1C):c.618-69A>C rs56229649
NM_000719.7(CACNA1C):c.6307G>T (p.Ala2103Ser) rs193922616

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