ClinVar Miner

List of variants in gene CACNA1C reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 211
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.5445-511= rs10774054 0.99951
NM_000719.7(CACNA1C):c.4727-190G>A rs11062308 0.04196
NM_000719.7(CACNA1C):c.1218-66G>A rs2239098 0.03942
NM_000719.7(CACNA1C):c.5784+199G>A rs2270372 0.03693
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 0.03118
NM_000719.7(CACNA1C):c.1114-587G>A rs17223925 0.02407
NM_000719.7(CACNA1C):c.2663+79C>T rs77802779 0.02186
NM_000719.7(CACNA1C):c.1669+54G>A rs2283325 0.02059
NM_000719.7(CACNA1C):c.2794-136G>T rs56269265 0.01925
NM_000719.7(CACNA1C):c.3718-216G>A rs117621166 0.01860
NM_000719.7(CACNA1C):c.4957-48_4957-41dup rs398102378 0.01624
NM_000719.7(CACNA1C):c.4624-297A>G rs73247430 0.01602
NM_000719.7(CACNA1C):c.371+121C>T rs117659417 0.01578
NM_000719.7(CACNA1C):c.5445-186T>C rs16927954 0.01551
NM_000719.7(CACNA1C):c.2663+188C>T rs117244626 0.01535
NM_000719.7(CACNA1C):c.1114-145A>G rs114000334 0.01517
NM_000719.7(CACNA1C):c.4232+268G>A rs116161853 0.01490
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.50-147C>T rs112230077 0.01380
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.3559-259C>T rs115763383 0.00915
NM_000719.7(CACNA1C):c.2103+190A>G rs150289490 0.00877
NM_000719.7(CACNA1C):c.3913-300T>C rs73243593 0.00877
NM_000719.7(CACNA1C):c.1113+78C>T rs112041316 0.00859
NM_000719.7(CACNA1C):c.1114-438T>G rs148469662 0.00825
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.4075-159C>T rs41276708 0.00756
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.5445-841_5445-840insCTC rs1162703492 0.00684
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.2794-229G>A rs184809240 0.00642
NM_000719.7(CACNA1C):c.2853+448G>A rs181538315 0.00633
NM_000719.7(CACNA1C):c.1218-214C>T rs145718507 0.00583
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455 0.00556
NM_000719.7(CACNA1C):c.916+63C>T rs151143736 0.00546
NM_000719.7(CACNA1C):c.916+65C>T rs140273028 0.00541
NM_000719.7(CACNA1C):c.3357-27C>A rs181984259 0.00489
NM_000719.7(CACNA1C):c.758-288A>G rs189856321 0.00476
NM_000719.7(CACNA1C):c.1217+154G>C rs376431932 0.00446
NM_000719.7(CACNA1C):c.1113+81C>T rs115182556 0.00371
NM_000719.7(CACNA1C):c.917-57G>A rs187330386 0.00360
NM_000719.7(CACNA1C):c.5092-40C>T rs116177151 0.00356
NM_000719.7(CACNA1C):c.4828+204C>T rs146745187 0.00349
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_000719.7(CACNA1C):c.2103+140G>A rs141442943 0.00343
NM_000719.7(CACNA1C):c.3157-175C>T rs146526882 0.00338
NM_000719.7(CACNA1C):c.4399-231C>T rs182409184 0.00307
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048 0.00279
NM_000719.7(CACNA1C):c.5092-221G>A rs188970327 0.00267
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.1176G>T (p.Gly392=) rs1051360 0.00209
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=) rs116491041 0.00200
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_000719.7(CACNA1C):c.4624-9C>T rs377568567 0.00163
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325 0.00140
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_000719.7(CACNA1C):c.4141-229C>T rs759016757 0.00124
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133 0.00120
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) rs201777030 0.00102
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008 0.00096
NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=) rs200638007 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.1509-43A>G rs534697569 0.00075
NM_000719.7(CACNA1C):c.3945+37G>A rs139691733 0.00071
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=) rs113239186 0.00063
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=) rs375534041 0.00062
NM_000719.7(CACNA1C):c.4957-32G>A rs79058062 0.00059
NM_000719.7(CACNA1C):c.4317C>T (p.Asn1439=) rs183192651 0.00058
NM_000719.7(CACNA1C):c.3156+17G>A rs201709484 0.00052
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_000719.7(CACNA1C):c.966C>T (p.His322=) rs112539787 0.00042
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896 0.00036
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) rs200588235 0.00032
NM_000719.7(CACNA1C):c.2460+6G>A rs369246066 0.00029
NM_000719.7(CACNA1C):c.984C>T (p.Asn328=) rs374050127 0.00029
NM_000719.7(CACNA1C):c.2531-34G>A rs141278139 0.00027
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=) rs200847105 0.00027
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456 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.2067C>T (p.Phe689=) rs112170830 0.00020
NM_000719.7(CACNA1C):c.3913-22C>G rs150777919 0.00019
NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=) rs368065584 0.00017
NM_000719.7(CACNA1C):c.4122C>T (p.Tyr1374=) rs146868811 0.00017
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.1002C>T (p.Pro334=) rs112002520 0.00014
NM_000719.7(CACNA1C):c.4075-4C>A rs369044605 0.00014
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.5022C>T (p.Thr1674=) rs372300407 0.00010
NM_000719.7(CACNA1C):c.5235C>T (p.His1745=) rs201861473 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.5284G>C (p.Gly1762Arg) rs374863121 0.00008
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) rs371831239 0.00008
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.4068C>T (p.Ser1356=) rs765091519 0.00007
NM_000719.7(CACNA1C):c.1686C>T (p.Ala562=) rs748256548 0.00006
NM_000719.7(CACNA1C):c.4500C>A (p.Ile1500=) rs752697651 0.00006
NM_000719.7(CACNA1C):c.6342G>A (p.Ala2114=) rs368073321 0.00006
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met) rs572234918 0.00005
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=) rs757236915 0.00005
NM_000719.7(CACNA1C):c.990G>A (p.Thr330=) rs371837699 0.00005
NM_000719.7(CACNA1C):c.1065G>A (p.Thr355=) rs757055492 0.00004
NM_000719.7(CACNA1C):c.1104G>A (p.Val368=) rs377274770 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.1620C>T (p.Thr540=) rs893883530 0.00004
NM_000719.7(CACNA1C):c.2664-7C>T rs575664788 0.00004
NM_000719.7(CACNA1C):c.2853+189A>G rs370050438 0.00004
NM_000719.7(CACNA1C):c.300G>A (p.Pro100=) rs764323907 0.00004
NM_000719.7(CACNA1C):c.3201G>A (p.Ala1067=) rs758461435 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.4170C>T (p.Thr1390=) rs587780878 0.00004
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.4074+8C>T rs751050441 0.00003
NM_000719.7(CACNA1C):c.4956+13G>A rs199753929 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.5382C>T (p.His1794=) rs377680168 0.00003
NM_000719.7(CACNA1C):c.5444+723C>T rs750984838 0.00003
NM_000719.7(CACNA1C):c.5444+795G>A rs755443764 0.00003
NM_000719.7(CACNA1C):c.5445-10G>A rs368236368 0.00003
NM_000719.7(CACNA1C):c.3654C>T (p.Ser1218=) rs776884902 0.00002
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=) rs769295096 0.00002
NM_000719.7(CACNA1C):c.5148C>T (p.Ser1716=) rs371262001 0.00002
NM_000719.7(CACNA1C):c.5217C>T (p.Asp1739=) rs864622139 0.00002
NM_000719.7(CACNA1C):c.810C>T (p.His270=) rs780247399 0.00002
NM_000719.7(CACNA1C):c.864G>A (p.Glu288=) rs749309131 0.00002
NM_000719.7(CACNA1C):c.-3T>C rs761790520 0.00001
NM_000719.7(CACNA1C):c.1251C>T (p.Ala417=) rs751902029 0.00001
NM_000719.7(CACNA1C):c.153G>A (p.Ser51=) rs563315606 0.00001
NM_000719.7(CACNA1C):c.168C>T (p.Ile56=) rs763760402 0.00001
NM_000719.7(CACNA1C):c.2451C>T (p.Pro817=) rs1257316721 0.00001
NM_000719.7(CACNA1C):c.2565C>T (p.Val855=) rs760390307 0.00001
NM_000719.7(CACNA1C):c.3489C>G (p.Gly1163=) rs1057522786 0.00001
NM_000719.7(CACNA1C):c.3558+10dup rs1555884916 0.00001
NM_000719.7(CACNA1C):c.4074+6C>T rs762974366 0.00001
NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr) rs773930851 0.00001
NM_000719.7(CACNA1C):c.5637C>A (p.Ile1879=) rs569227029 0.00001
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=) rs757373786 0.00001
NM_000719.7(CACNA1C):c.5904C>T (p.Pro1968=) rs779915019 0.00001
NM_000719.7(CACNA1C):c.6019G>A (p.Ala2007Thr) rs750411964 0.00001
NM_000719.7(CACNA1C):c.6039C>T (p.Pro2013=) rs780157730 0.00001
NM_000719.7(CACNA1C):c.6411C>T (p.Ser2137=) rs779914106 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
GRCh37/hg19 12p13.33(chr12:2235940-2382140)x1
NM_000719.7(CACNA1C):c.1218-6C>T rs727503833
NM_000719.7(CACNA1C):c.1391-2480G>A
NM_000719.7(CACNA1C):c.1473C>T (p.Ala491=)
NM_000719.7(CACNA1C):c.1557C>T (p.Ala519=) rs186720824
NM_000719.7(CACNA1C):c.1614G>T (p.Thr538=)
NM_000719.7(CACNA1C):c.18G>T (p.Thr6=)
NM_000719.7(CACNA1C):c.2104-240G>A rs74053837
NM_000719.7(CACNA1C):c.2225-8A>C
NM_000719.7(CACNA1C):c.2397C>T (p.Ser799=) rs1440491763
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.309C>T (p.Ala103=) rs757538469
NM_000719.7(CACNA1C):c.3210-52C>T rs115779848
NM_000719.7(CACNA1C):c.3559-17C>T rs897046930
NM_000719.7(CACNA1C):c.3828+177G>A rs114441162
NM_000719.7(CACNA1C):c.3829-717_3829-714del rs111345392
NM_000719.7(CACNA1C):c.3903C>T (p.Thr1301=) rs1489840314
NM_000719.7(CACNA1C):c.390T>C (p.Ile130=) rs1596374060
NM_000719.7(CACNA1C):c.3946-66G>A rs786205740
NM_000719.7(CACNA1C):c.4140+77G>T rs114714957
NM_000719.7(CACNA1C):c.4185G>A (p.Arg1395=) rs2153668917
NM_000719.7(CACNA1C):c.4726+10C>T rs1364395580
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.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5223G>A (p.Glu1741=) rs1372760091
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro) rs201918158
NM_000719.7(CACNA1C):c.5444+669G>A
NM_000719.7(CACNA1C):c.5444+675G>A
NM_000719.7(CACNA1C):c.5444+774T>C rs535388483
NM_000719.7(CACNA1C):c.5445-585G>A rs113722042
NM_000719.7(CACNA1C):c.549C>T (p.Leu183=) rs1596540958
NM_000719.7(CACNA1C):c.6117+11C>T
NM_000719.7(CACNA1C):c.615G>A (p.Val205=) rs747320984
NM_000719.7(CACNA1C):c.618-69A>C rs56229649

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