ClinVar Miner

List of variants in gene CACNA1C reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 204
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.5149G>A (p.Ala1717Thr) rs200865354 0.00029
NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln) rs373335068 0.00024
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile) rs201392574 0.00018
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.5717G>A (p.Arg1906Gln) rs758166168 0.00010
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.5138A>G (p.Asp1713Gly) rs769297492 0.00009
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=) rs369079645 0.00009
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.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.3946-51C>T rs202216172 0.00005
NM_000719.7(CACNA1C):c.5144G>A (p.Arg1715Gln) rs376706496 0.00005
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln) rs369255950 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.5120T>C (p.Val1707Ala) rs531161884 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.2813T>C (p.Ile938Thr) rs377165829 0.00003
NM_000719.7(CACNA1C):c.3295G>A (p.Asp1099Asn) rs771549676 0.00003
NM_000719.7(CACNA1C):c.3943A>G (p.Met1315Val) rs756734279 0.00003
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) rs761966966 0.00003
NM_000719.7(CACNA1C):c.538G>A (p.Ala180Thr) rs786205769 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.3367C>T (p.Arg1123Cys) rs1057518445 0.00002
NM_000719.7(CACNA1C):c.3424A>C (p.Ile1142Leu) rs752247655 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.70C>T (p.Arg24Cys) rs773211348 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.130C>G (p.Pro44Ala) rs1057518456 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.1864G>A (p.Val622Ile) rs768270021 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.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.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.4040G>A (p.Arg1347Gln) rs777058699 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.5162C>G (p.Thr1721Ser) rs554737427 0.00001
NM_000719.7(CACNA1C):c.5164T>G (p.Phe1722Val) rs751493277 0.00001
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys) rs371760034 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
NM_000719.7(CACNA1C):c.1052T>A (p.Phe351Tyr) rs1555672376
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.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.1420G>T (p.Val474Phe) rs765581751
NM_000719.7(CACNA1C):c.1532G>A (p.Arg511Gln) rs786205747
NM_000719.7(CACNA1C):c.154T>C (p.Trp52Arg) rs786205765
NM_000719.7(CACNA1C):c.1672A>G (p.Thr558Ala) rs2154593415
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>C (p.Gly675Ala)
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.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.2536G>A (p.Glu846Lys) rs1295351612
NM_000719.7(CACNA1C):c.2575C>T (p.Pro859Ser) rs2153339297
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.2794-3C>T
NM_000719.7(CACNA1C):c.2827A>G (p.Ile943Val) rs786205757
NM_000719.7(CACNA1C):c.2853+155G>A
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.3061T>C (p.Cys1021Arg) rs1057518301
NM_000719.7(CACNA1C):c.3061T>G (p.Cys1021Gly) 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.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.3577G>A (p.Ala1193Thr) rs1251955384
NM_000719.7(CACNA1C):c.3606C>G (p.Tyr1202Ter) rs895560697
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.3701T>A (p.Ile1234Asn) rs786205780
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.3929A>C (p.Gln1310Pro)
NM_000719.7(CACNA1C):c.3930A>T (p.Gln1310His) rs369262825
NM_000719.7(CACNA1C):c.3946-44C>T rs760982440
NM_000719.7(CACNA1C):c.3962C>T (p.Ser1321Phe) rs779278894
NM_000719.7(CACNA1C):c.3G>C (p.Met1Ile)
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.4216G>A (p.Val1406Met) rs753204879
NM_000719.7(CACNA1C):c.4567C>T (p.Arg1523Trp)
NM_000719.7(CACNA1C):c.4760C>A (p.Ala1587Glu)
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.4858G>A (p.Ala1620Thr) rs2096864308
NM_000719.7(CACNA1C):c.4862C>T (p.Thr1621Met) rs2153787309
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.5201del (p.Gly1734fs) rs1556105540
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.5444+613C>G
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.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.617+1G>A rs2154562886
NM_000719.7(CACNA1C):c.620T>G (p.Leu207Arg) rs2154564925
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.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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.