ClinVar Miner

List of variants in gene CACNA1C studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 243
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.5445-511= rs10774054 0.99951
NM_000719.7(CACNA1C):c.5445-584A>G rs10774053 0.80326
NM_000719.7(CACNA1C):c.5445-586C>T rs10848683 0.70684
NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=) rs1051375 0.57002
NM_000719.7(CACNA1C):c.617+19T>C rs1544516 0.27158
NM_000719.7(CACNA1C):c.617+17G>A rs1544515 0.27035
NM_000719.7(CACNA1C):c.3786C>T (p.Phe1262=) rs216008 0.20673
NM_000719.7(CACNA1C):c.522G>A (p.Ala174=) rs1544514 0.16949
NM_000719.7(CACNA1C):c.2436C>T (p.Asp812=) rs215976 0.08744
NM_000719.7(CACNA1C):c.1114-292C>T rs2238087 0.06609
NM_000719.7(CACNA1C):c.4038C>T (p.Ile1346=) rs56180838 0.04572
NM_000719.7(CACNA1C):c.5292C>T (p.Asn1764=) rs72552065 0.04512
NM_000719.7(CACNA1C):c.4485T>C (p.Asp1495=) rs41276710 0.04216
NM_000719.7(CACNA1C):c.372-15G>A rs55792866 0.02977
NM_000719.7(CACNA1C):c.5680+15C>T rs114036394 0.01782
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948 0.01676
NM_000719.7(CACNA1C):c.5383G>A (p.Gly1795Arg) rs111298509 0.01614
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=) rs34419050 0.01584
NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=) rs11062316 0.00963
NM_000719.7(CACNA1C):c.771C>T (p.Val257=) rs112315742 0.00908
NM_000719.7(CACNA1C):c.371+17G>A rs78645318 0.00797
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=) rs113595214 0.00709
NM_000719.7(CACNA1C):c.3114G>C (p.Leu1038=) rs114139824 0.00585
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455 0.00556
NM_000719.7(CACNA1C):c.3387G>A (p.Thr1129=) rs188224114 0.00525
NM_000719.7(CACNA1C):c.1391-2484C>T rs60106875 0.00498
NM_000719.7(CACNA1C):c.5064C>T (p.Ser1688=) rs139872789 0.00449
NM_000719.7(CACNA1C):c.5091+18G>A rs143343491 0.00423
NM_000719.7(CACNA1C):c.5360C>T (p.Thr1787Met) rs192749597 0.00353
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048 0.00279
NM_000719.7(CACNA1C):c.4623+13G>A rs111734850 0.00241
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.4829-7G>A rs137904817 0.00194
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_000719.7(CACNA1C):c.1669+10G>A rs576194052 0.00175
NM_001167623.2(CACNA1C):c.3883A>G (p.Ile1295Val) rs114851656 0.00169
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.1074G>A (p.Gln358=) rs139842134 0.00113
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.4074+14A>G rs371806132 0.00092
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.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) rs200330469 0.00063
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.4317C>T (p.Asn1439=) rs183192651 0.00058
NM_000719.7(CACNA1C):c.2530+13C>T rs374170716 0.00055
NM_000719.7(CACNA1C):c.3156+17G>A rs201709484 0.00052
NM_000719.7(CACNA1C):c.5680+11C>A rs66611965 0.00052
NM_000719.7(CACNA1C):c.5091+17C>T rs375537358 0.00051
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.1390+11G>A rs376570105 0.00035
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.846C>T (p.Tyr282=) rs200847105 0.00027
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln) rs199776761 0.00026
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.618G>A (p.Gly206=) rs200602896 0.00025
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=) rs200283756 0.00023
NM_000719.7(CACNA1C):c.4726+9G>A rs369267978 0.00022
NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=) rs112170830 0.00020
NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=) rs368065584 0.00017
NM_000719.7(CACNA1C):c.2712C>T (p.Asn904=) rs144992959 0.00017
NM_000719.7(CACNA1C):c.5119G>A (p.Val1707Ile) rs147896322 0.00016
NM_000719.7(CACNA1C):c.5143C>A (p.Arg1715=) rs373996684 0.00016
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_000719.7(CACNA1C):c.1114-416G>A rs187604163 0.00014
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790 0.00014
NM_000719.7(CACNA1C):c.3209+12T>C rs372982213 0.00014
NM_000719.7(CACNA1C):c.4829-8C>T rs370969487 0.00013
NM_000719.7(CACNA1C):c.6034C>T (p.Arg2012Trp) rs553500083 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.1508+15C>T rs776362233 0.00011
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) rs370432385 0.00011
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.1332C>T (p.Ala444=) rs202027411 0.00009
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843 0.00009
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568 0.00009
NM_000719.7(CACNA1C):c.5235C>T (p.His1745=) rs201861473 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.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.3933C>T (p.Cys1311=) rs199569953 0.00007
NM_000719.7(CACNA1C):c.4068C>T (p.Ser1356=) rs765091519 0.00007
NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val) rs374991642 0.00007
NM_000719.7(CACNA1C):c.1896-18C>A rs1056995890 0.00006
NM_000719.7(CACNA1C):c.2461-3T>C rs918755208 0.00006
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557 0.00006
NM_000719.7(CACNA1C):c.371+16C>T rs377534958 0.00006
NM_000719.7(CACNA1C):c.6339C>T (p.Asp2113=) rs374843203 0.00006
NM_000719.7(CACNA1C):c.6342G>A (p.Ala2114=) rs368073321 0.00006
NM_000719.7(CACNA1C):c.2339+18C>T rs778390407 0.00005
NM_000719.7(CACNA1C):c.4941C>T (p.Asn1647=) rs773832706 0.00005
NM_000719.7(CACNA1C):c.5444+609C>T rs760873868 0.00005
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg) rs186867242 0.00005
NM_000719.7(CACNA1C):c.990G>A (p.Thr330=) rs371837699 0.00005
NM_000719.7(CACNA1C):c.-28C>T rs989994685 0.00004
NM_000719.7(CACNA1C):c.1065G>A (p.Thr355=) rs757055492 0.00004
NM_000719.7(CACNA1C):c.1481+16G>A rs369604192 0.00004
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln) rs369255950 0.00004
NM_000719.7(CACNA1C):c.1674G>A (p.Thr558=) rs781180544 0.00004
NM_000719.7(CACNA1C):c.2637G>A (p.Ala879=) rs199629800 0.00004
NM_000719.7(CACNA1C):c.2664-7C>T rs575664788 0.00004
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=) rs202058956 0.00004
NM_000719.7(CACNA1C):c.3717+11G>A rs763622598 0.00004
NM_000719.7(CACNA1C):c.375A>G (p.Pro125=) rs587780882 0.00004
NM_000719.7(CACNA1C):c.4170C>T (p.Thr1390=) rs587780878 0.00004
NM_000719.7(CACNA1C):c.426G>A (p.Ala142=) rs546786746 0.00004
NM_000719.7(CACNA1C):c.478-19T>G rs571558332 0.00004
NM_000719.7(CACNA1C):c.5181G>A (p.Pro1727=) rs370149297 0.00004
NM_000719.7(CACNA1C):c.5226G>A (p.Ser1742=) rs368281620 0.00004
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881 0.00004
NM_000719.7(CACNA1C):c.5737G>A (p.Asp1913Asn) rs181502604 0.00004
NM_000719.7(CACNA1C):c.1467C>T (p.Cys489=) rs781074075 0.00003
NM_000719.7(CACNA1C):c.1669+15C>T rs774122237 0.00003
NM_000719.7(CACNA1C):c.2961-5C>T rs781703710 0.00003
NM_000719.7(CACNA1C):c.3157-7C>T rs759274364 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.3948C>T (p.Asn1316=) rs150092451 0.00003
NM_000719.7(CACNA1C):c.4050G>A (p.Leu1350=) rs371640459 0.00003
NM_000719.7(CACNA1C):c.4956+16C>T rs781417944 0.00003
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) rs761966966 0.00003
NM_000719.7(CACNA1C):c.5493G>A (p.Thr1831=) rs368046891 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_000719.7(CACNA1C):c.1126G>A (p.Val376Ile) rs1131653 0.00002
NM_000719.7(CACNA1C):c.1689G>C (p.Leu563=) rs372908090 0.00002
NM_000719.7(CACNA1C):c.2339+20C>A rs201164691 0.00002
NM_000719.7(CACNA1C):c.2634C>T (p.Ser878=) rs752800134 0.00002
NM_000719.7(CACNA1C):c.3367C>T (p.Arg1123Cys) rs1057518445 0.00002
NM_000719.7(CACNA1C):c.3424A>C (p.Ile1142Leu) rs752247655 0.00002
NM_000719.7(CACNA1C):c.3654C>T (p.Ser1218=) rs776884902 0.00002
NM_000719.7(CACNA1C):c.372-9C>G rs367763190 0.00002
NM_000719.7(CACNA1C):c.3789C>A (p.Thr1263=) rs765393806 0.00002
NM_000719.7(CACNA1C):c.3912+14G>A rs372728453 0.00002
NM_000719.7(CACNA1C):c.4074+19C>T rs779341594 0.00002
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=) rs769295096 0.00002
NM_000719.7(CACNA1C):c.4578G>A (p.Pro1526=) rs376555924 0.00002
NM_000719.7(CACNA1C):c.5331C>T (p.Arg1777=) rs587780880 0.00002
NM_000719.7(CACNA1C):c.5445-17dup rs752372266 0.00002
NM_000719.7(CACNA1C):c.6234C>T (p.Ala2078=) rs774966357 0.00002
NM_000719.7(CACNA1C):c.-27T>G rs776331800 0.00001
NM_000719.7(CACNA1C):c.1114-417C>T rs746270394 0.00001
NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala) rs1057518456 0.00001
NM_000719.7(CACNA1C):c.1356G>A (p.Glu452=) rs1257737700 0.00001
NM_000719.7(CACNA1C):c.1508+16G>A rs1358258790 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.225A>C (p.Thr75=) rs756361032 0.00001
NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys) rs774002530 0.00001
NM_000719.7(CACNA1C):c.2530+9C>T rs587780876 0.00001
NM_000719.7(CACNA1C):c.2569C>G (p.Pro857Ala) rs1391136601 0.00001
NM_000719.7(CACNA1C):c.2664-11C>G rs767514995 0.00001
NM_000719.7(CACNA1C):c.2793+10G>A rs587780877 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.3498C>T (p.Ile1166=) rs201147949 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.4232+16C>A rs757493608 0.00001
NM_000719.7(CACNA1C):c.4305C>T (p.Ser1435=) rs756717724 0.00001
NM_000719.7(CACNA1C):c.4782G>A (p.Lys1594=) rs1336965329 0.00001
NM_000719.7(CACNA1C):c.4837G>A (p.Val1613Ile) rs757629968 0.00001
NM_000719.7(CACNA1C):c.50-18T>C rs750923289 0.00001
NM_000719.7(CACNA1C):c.5157C>G (p.Pro1719=) rs534589273 0.00001
NM_000719.7(CACNA1C):c.5330G>A (p.Arg1777His) rs189719120 0.00001
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys) rs371760034 0.00001
NM_000719.7(CACNA1C):c.5637C>A (p.Ile1879=) rs569227029 0.00001
NM_000719.7(CACNA1C):c.579C>T (p.Asn193=) rs561224137 0.00001
NM_000719.7(CACNA1C):c.5883C>T (p.Ser1961=) rs1291974001 0.00001
NM_000719.7(CACNA1C):c.5929G>A (p.Val1977Ile) rs786205741 0.00001
NM_000719.7(CACNA1C):c.6019G>A (p.Ala2007Thr) rs750411964 0.00001
NM_000719.7(CACNA1C):c.6050T>C (p.Met2017Thr) rs786205742 0.00001
NM_000719.7(CACNA1C):c.6279C>T (p.Ala2093=) rs768208850 0.00001
NM_000719.7(CACNA1C):c.672C>T (p.Leu224=) rs868024886 0.00001
NM_000719.7(CACNA1C):c.75C>T (p.Pro25=) rs773869181 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.1217+11C>T rs886038364
NM_000719.7(CACNA1C):c.135C>A (p.Thr45=) rs749123185
NM_000719.7(CACNA1C):c.1391-17C>G rs1057524174
NM_000719.7(CACNA1C):c.1482-15C>T rs1057521702
NM_000719.7(CACNA1C):c.1508+14dup rs1428591728
NM_000719.7(CACNA1C):c.1508+20C>T rs1471165180
NM_000719.7(CACNA1C):c.154T>C (p.Trp52Arg) rs786205765
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.2229C>T (p.Ile743=) rs759734767
NM_000719.7(CACNA1C):c.2331G>A (p.Lys777=) rs1555833118
NM_000719.7(CACNA1C):c.2339+20C>T rs201164691
NM_000719.7(CACNA1C):c.248G>A (p.Arg83Gln) rs774931483
NM_000719.7(CACNA1C):c.2794-5del rs1555860850
NM_000719.7(CACNA1C):c.3061T>G (p.Cys1021Gly) rs1057518301
NM_000719.7(CACNA1C):c.3087C>A (p.Ile1029=) rs151211423
NM_000719.7(CACNA1C):c.3648C>T (p.Val1216=) rs1057521327
NM_000719.7(CACNA1C):c.3718-14C>G rs1555888662
NM_000719.7(CACNA1C):c.3822A>G (p.Lys1274=) rs1057524175
NM_000719.7(CACNA1C):c.3913-18A>G
NM_000719.7(CACNA1C):c.3939C>T (p.Pro1313=) rs2094569738
NM_000719.7(CACNA1C):c.3946-45C>A rs201551454
NM_000719.7(CACNA1C):c.3946-46C>T rs112919597
NM_000719.7(CACNA1C):c.4141-20C>A rs934540211
NM_000719.7(CACNA1C):c.4232+18T>G rs779157902
NM_000719.7(CACNA1C):c.4527-20T>C rs587780879
NM_000719.7(CACNA1C):c.4527-7C>T rs1057522340
NM_000719.7(CACNA1C):c.4623+20A>G rs1440822075
NM_000719.7(CACNA1C):c.4726+13G>A rs561365937
NM_000719.7(CACNA1C):c.4821T>C (p.Pro1607=) rs2096712361
NM_000719.7(CACNA1C):c.4860C>A (p.Ala1620=) rs1057522559
NM_000719.7(CACNA1C):c.4957-12C>T rs1556045982
NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg) rs778011390
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.5145G>A (p.Arg1715=) rs761205516
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5214C>T (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5444+618C>T rs1057520958
NM_000719.7(CACNA1C):c.5574-13C>A rs1265215318
NM_000719.7(CACNA1C):c.5680+11C>T rs66611965
NM_000719.7(CACNA1C):c.5870C>A (p.Ala1957Asp) rs1323011590
NM_000719.7(CACNA1C):c.6123G>C (p.Leu2041Phe) rs998497258
NM_000719.7(CACNA1C):c.617+17_617+19delinsATC
NM_000719.7(CACNA1C):c.6307G>T (p.Ala2103Ser) rs193922616
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs) rs771708175
NM_000719.7(CACNA1C):c.757+14G>A rs753042094

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