ClinVar Miner

List of variants in gene CACNA1C reported as uncertain significance for Cardiovascular phenotype

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Gene type:
ClinVar version:
Total variants: 250
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_000719.7(CACNA1C):c.4075-4C>A rs369044605 0.00014
NM_000719.7(CACNA1C):c.5375A>G (p.Glu1792Gly) rs374177870 0.00012
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) rs370432385 0.00011
NM_000719.7(CACNA1C):c.4233-4C>T rs769538757 0.00010
NM_000719.7(CACNA1C):c.865C>A (p.Leu289Ile) rs770311259 0.00010
NM_000719.7(CACNA1C):c.5138A>G (p.Asp1713Gly) rs769297492 0.00009
NM_000719.7(CACNA1C):c.2566G>A (p.Gly856Ser) rs145549773 0.00007
NM_000719.7(CACNA1C):c.5671G>C (p.Ala1891Pro) rs542914369 0.00007
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557 0.00006
NM_000719.7(CACNA1C):c.5407C>T (p.Arg1803Trp) rs113157354 0.00006
NM_000719.7(CACNA1C):c.5510A>G (p.Tyr1837Cys) rs952990263 0.00006
NM_000719.7(CACNA1C):c.107C>T (p.Ala36Val) rs755028000 0.00005
NM_000719.7(CACNA1C):c.5144G>A (p.Arg1715Gln) rs376706496 0.00005
NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr) rs369483452 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.2429C>T (p.Thr810Met) rs772235214 0.00004
NM_000719.7(CACNA1C):c.2816T>C (p.Val939Ala) rs754495060 0.00004
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) rs531161884 0.00004
NM_000719.7(CACNA1C):c.5320G>A (p.Ala1774Thr) rs767425352 0.00004
NM_000719.7(CACNA1C):c.5737G>A (p.Asp1913Asn) rs181502604 0.00004
NM_000719.7(CACNA1C):c.6022G>A (p.Ala2008Thr) rs765885227 0.00004
NM_000719.7(CACNA1C):c.1823C>T (p.Thr608Ile) rs757507674 0.00003
NM_000719.7(CACNA1C):c.2961-5C>T rs781703710 0.00003
NM_000719.7(CACNA1C):c.3386C>T (p.Thr1129Met) rs374549078 0.00003
NM_000719.7(CACNA1C):c.3943A>G (p.Met1315Val) rs756734279 0.00003
NM_000719.7(CACNA1C):c.50-3C>T rs780161540 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.5408G>A (p.Arg1803Gln) rs201918158 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn) rs373503739 0.00003
NM_000719.7(CACNA1C):c.6064G>C (p.Ala2022Pro) rs758974396 0.00003
NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser) rs886049209 0.00003
NM_000719.7(CACNA1C):c.6329G>T (p.Gly2110Val) rs745731628 0.00003
NM_000719.7(CACNA1C):c.6368C>G (p.Pro2123Arg) rs970305864 0.00003
NM_000719.7(CACNA1C):c.1342G>A (p.Asp448Asn) rs786205746 0.00002
NM_000719.7(CACNA1C):c.1723A>T (p.Met575Leu) rs1157777158 0.00002
NM_000719.7(CACNA1C):c.2795T>C (p.Ile932Thr) rs786205756 0.00002
NM_000719.7(CACNA1C):c.3424A>C (p.Ile1142Leu) rs752247655 0.00002
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=) rs769295096 0.00002
NM_000719.7(CACNA1C):c.460G>A (p.Ala154Thr) rs1064796583 0.00002
NM_000719.7(CACNA1C):c.4726+3A>G rs982682310 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.5398C>T (p.Pro1800Ser) rs921032597 0.00002
NM_000719.7(CACNA1C):c.5576T>C (p.Leu1859Pro) rs566778414 0.00002
NM_000719.7(CACNA1C):c.5684G>A (p.Arg1895Gln) rs753954220 0.00002
NM_000719.7(CACNA1C):c.5906T>C (p.Val1969Ala) rs1298514198 0.00002
NM_000719.7(CACNA1C):c.5996C>T (p.Thr1999Ile) rs532551057 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.-3T>C rs761790520 0.00001
NM_000719.7(CACNA1C):c.1097C>T (p.Thr366Met) rs1429990170 0.00001
NM_000719.7(CACNA1C):c.1113+4C>T rs747800763 0.00001
NM_000719.7(CACNA1C):c.1215C>T (p.Ser405=) rs780409021 0.00001
NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala) rs1057518456 0.00001
NM_000719.7(CACNA1C):c.1333G>A (p.Glu445Lys) rs1238581042 0.00001
NM_000719.7(CACNA1C):c.1414G>A (p.Glu472Lys) rs770480382 0.00001
NM_000719.7(CACNA1C):c.1420G>A (p.Val474Ile) rs765581751 0.00001
NM_000719.7(CACNA1C):c.1453G>A (p.Glu485Lys) rs763065970 0.00001
NM_000719.7(CACNA1C):c.1510C>T (p.Arg504Cys) rs370634418 0.00001
NM_000719.7(CACNA1C):c.1516T>G (p.Trp506Gly) rs975289385 0.00001
NM_000719.7(CACNA1C):c.1522C>T (p.Arg508Trp) rs776805699 0.00001
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn) rs773528195 0.00001
NM_000719.7(CACNA1C):c.1768C>T (p.Arg590Cys) rs776145143 0.00001
NM_000719.7(CACNA1C):c.1786G>A (p.Val596Met) rs768034509 0.00001
NM_000719.7(CACNA1C):c.1864G>A (p.Val622Ile) rs768270021 0.00001
NM_000719.7(CACNA1C):c.2045T>C (p.Met682Thr) rs1429541061 0.00001
NM_000719.7(CACNA1C):c.2381C>T (p.Pro794Leu) rs771393283 0.00001
NM_000719.7(CACNA1C):c.2398A>C (p.Lys800Gln) rs779009338 0.00001
NM_000719.7(CACNA1C):c.247C>T (p.Arg83Trp) rs886039214 0.00001
NM_000719.7(CACNA1C):c.2506C>T (p.Pro836Ser) rs1042919299 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_000719.7(CACNA1C):c.3161A>G (p.Lys1054Arg) rs1305965146 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.3331G>A (p.Val1111Ile) rs766023530 0.00001
NM_000719.7(CACNA1C):c.3556C>G (p.Gln1186Glu) rs890686445 0.00001
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln) rs368861681 0.00001
NM_000719.7(CACNA1C):c.3717+4A>G rs1184709095 0.00001
NM_000719.7(CACNA1C):c.3718-3C>T rs1267424726 0.00001
NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr) rs749588699 0.00001
NM_000719.7(CACNA1C):c.4141-4C>T rs745757052 0.00001
NM_000719.7(CACNA1C):c.4381A>G (p.Met1461Val) rs200206894 0.00001
NM_000719.7(CACNA1C):c.482G>A (p.Arg161Gln) rs777210376 0.00001
NM_000719.7(CACNA1C):c.4837G>A (p.Val1613Ile) rs757629968 0.00001
NM_000719.7(CACNA1C):c.484G>A (p.Val162Met) rs1243482248 0.00001
NM_000719.7(CACNA1C):c.5225C>T (p.Ser1742Leu) rs375571032 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.5339G>A (p.Arg1780His) rs756829999 0.00001
NM_000719.7(CACNA1C):c.5441A>G (p.Asn1814Ser) rs780210232 0.00001
NM_000719.7(CACNA1C):c.5486A>G (p.Glu1829Gly) rs1350126839 0.00001
NM_000719.7(CACNA1C):c.5600G>A (p.Arg1867Gln) rs535350857 0.00001
NM_000719.7(CACNA1C):c.5808C>G (p.Ser1936Arg) rs748679771 0.00001
NM_000719.7(CACNA1C):c.5827C>T (p.His1943Tyr) rs200666365 0.00001
NM_000719.7(CACNA1C):c.5929G>A (p.Val1977Ile) rs786205741 0.00001
NM_000719.7(CACNA1C):c.5932G>A (p.Glu1978Lys) rs765320988 0.00001
NM_000719.7(CACNA1C):c.6007G>A (p.Gly2003Arg) rs886038918 0.00001
NM_000719.7(CACNA1C):c.6055C>G (p.Pro2019Ala) rs773185026 0.00001
NM_000719.7(CACNA1C):c.6091G>A (p.Gly2031Ser) rs1464980383 0.00001
NM_000719.7(CACNA1C):c.6154G>A (p.Asp2052Asn) rs957119379 0.00001
NM_000719.7(CACNA1C):c.6197C>T (p.Ala2066Val) rs1216146146 0.00001
NM_000719.7(CACNA1C):c.6287C>A (p.Pro2096His) rs2097781569 0.00001
NM_000719.7(CACNA1C):c.6338A>C (p.Asp2113Ala) rs972053240 0.00001
NM_000719.7(CACNA1C):c.82G>A (p.Ala28Thr) rs373687005 0.00001
NM_000719.7(CACNA1C):c.901C>G (p.Gln301Glu) rs538921079 0.00001
NM_000719.7(CACNA1C):c.953T>C (p.Leu318Pro) rs745856938 0.00001
NM_000719.7(CACNA1C):c.-2C>T
NM_000719.7(CACNA1C):c.1113+3A>G
NM_000719.7(CACNA1C):c.1113+4C>G
NM_000719.7(CACNA1C):c.121G>A (p.Glu41Lys)
NM_000719.7(CACNA1C):c.1252C>T (p.Arg418Trp)
NM_000719.7(CACNA1C):c.127A>C (p.Ile43Leu)
NM_000719.7(CACNA1C):c.1372GAG[1] (p.Glu459del)
NM_000719.7(CACNA1C):c.1394G>A (p.Ser465Asn)
NM_000719.7(CACNA1C):c.13A>C (p.Asn5His) rs886049150
NM_000719.7(CACNA1C):c.1484A>G (p.His495Arg)
NM_000719.7(CACNA1C):c.14A>G (p.Asn5Ser) rs1555075958
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) rs786205782
NM_000719.7(CACNA1C):c.1618A>G (p.Thr540Ala)
NM_000719.7(CACNA1C):c.161C>T (p.Ala54Val) rs775019372
NM_000719.7(CACNA1C):c.1694C>T (p.Ala565Val)
NM_000719.7(CACNA1C):c.17C>G (p.Thr6Arg)
NM_000719.7(CACNA1C):c.17C>T (p.Thr6Met)
NM_000719.7(CACNA1C):c.1852G>A (p.Val618Met) rs775536781
NM_000719.7(CACNA1C):c.1895+3A>T
NM_000719.7(CACNA1C):c.2023G>A (p.Gly675Arg)
NM_000719.7(CACNA1C):c.2225-5_2225-2del
NM_000719.7(CACNA1C):c.226G>C (p.Val76Leu)
NM_000719.7(CACNA1C):c.2276C>A (p.Ala759Asp)
NM_000719.7(CACNA1C):c.2284C>T (p.Leu762Phe) rs2061710859
NM_000719.7(CACNA1C):c.2311GAG[1] (p.Glu772del) rs786205770
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del) rs786205771
NM_000719.7(CACNA1C):c.2339+5C>A rs554086967
NM_000719.7(CACNA1C):c.2345C>G (p.Ala782Gly)
NM_000719.7(CACNA1C):c.2348G>A (p.Ser783Asn)
NM_000719.7(CACNA1C):c.2386G>C (p.Val796Leu)
NM_000719.7(CACNA1C):c.2399A>C (p.Lys800Thr)
NM_000719.7(CACNA1C):c.2401GAG[1] (p.Glu802del) rs771014370
NM_000719.7(CACNA1C):c.2446C>T (p.Pro816Ser) rs1380611135
NM_000719.7(CACNA1C):c.2455A>G (p.Thr819Ala) rs1453935757
NM_000719.7(CACNA1C):c.2464A>T (p.Asn822Tyr)
NM_000719.7(CACNA1C):c.2512C>T (p.Pro838Ser)
NM_000719.7(CACNA1C):c.2536G>A (p.Glu846Lys) rs1295351612
NM_000719.7(CACNA1C):c.2555A>C (p.Glu852Ala)
NM_000719.7(CACNA1C):c.2615T>C (p.Val872Ala)
NM_000719.7(CACNA1C):c.2664G>C (p.Arg888Ser) rs754046062
NM_000719.7(CACNA1C):c.2794-5T>C rs1568666242
NM_000719.7(CACNA1C):c.2807T>G (p.Phe936Cys) rs762624889
NM_000719.7(CACNA1C):c.2968G>C (p.Ala990Pro)
NM_000719.7(CACNA1C):c.3181A>G (p.Ser1061Gly)
NM_000719.7(CACNA1C):c.3206G>A (p.Cys1069Tyr)
NM_000719.7(CACNA1C):c.3234C>A (p.Asp1078Glu) rs111606207
NM_000719.7(CACNA1C):c.3254_3260dup (p.Gln1087fs)
NM_000719.7(CACNA1C):c.3358C>G (p.Leu1120Val)
NM_000719.7(CACNA1C):c.3368G>A (p.Arg1123His) rs745853358
NM_000719.7(CACNA1C):c.3457A>G (p.Ile1153Val) rs370798052
NM_000719.7(CACNA1C):c.3460G>A (p.Ala1154Thr) rs1601930985
NM_000719.7(CACNA1C):c.3544C>G (p.Leu1182Val)
NM_000719.7(CACNA1C):c.3659A>G (p.Tyr1220Cys)
NM_000719.7(CACNA1C):c.3718-5T>C
NM_000719.7(CACNA1C):c.3862G>T (p.Ala1288Ser)
NM_000719.7(CACNA1C):c.3904G>A (p.Glu1302Lys) rs886038890
NM_000719.7(CACNA1C):c.3950C>T (p.Ala1317Val)
NM_000719.7(CACNA1C):c.4043C>T (p.Thr1348Met)
NM_000719.7(CACNA1C):c.4349G>A (p.Ser1450Asn) rs1009822245
NM_000719.7(CACNA1C):c.4393T>C (p.Phe1465Leu) rs886038809
NM_000719.7(CACNA1C):c.4411T>C (p.Phe1471Leu) rs1555997051
NM_000719.7(CACNA1C):c.4453dup (p.Asp1485fs)
NM_000719.7(CACNA1C):c.4477C>G (p.His1493Asp)
NM_000719.7(CACNA1C):c.4549GTG[1] (p.Val1518del)
NM_000719.7(CACNA1C):c.4597C>G (p.Leu1533Val)
NM_000719.7(CACNA1C):c.4609C>T (p.Arg1537Cys)
NM_000719.7(CACNA1C):c.4666_4669dup (p.Met1557fs) rs2096394881
NM_000719.7(CACNA1C):c.4760C>A (p.Ala1587Glu)
NM_000719.7(CACNA1C):c.4760C>T (p.Ala1587Val) rs751224055
NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn) rs786205763
NM_000719.7(CACNA1C):c.4819C>G (p.Pro1607Ala) rs745938574
NM_000719.7(CACNA1C):c.4828+1G>A rs2153757423
NM_000719.7(CACNA1C):c.4885C>T (p.Arg1629Trp)
NM_000719.7(CACNA1C):c.4886G>A (p.Arg1629Gln)
NM_000719.7(CACNA1C):c.49+3A>G
NM_000719.7(CACNA1C):c.49+5G>A
NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg) rs778011390
NM_000719.7(CACNA1C):c.4996C>T (p.Arg1666Ter)
NM_000719.7(CACNA1C):c.5065GCT[1] (p.Ala1690del) rs1569209887
NM_000719.7(CACNA1C):c.5131C>G (p.Gln1711Glu)
NM_000719.7(CACNA1C):c.5143C>T (p.Arg1715Trp) rs373996684
NM_000719.7(CACNA1C):c.5168C>T (p.Thr1723Ile)
NM_000719.7(CACNA1C):c.5174A>T (p.Gln1725Leu)
NM_000719.7(CACNA1C):c.5180C>T (p.Pro1727Leu) rs2153803252
NM_000719.7(CACNA1C):c.5191A>G (p.Asn1731Asp)
NM_000719.7(CACNA1C):c.5200G>A (p.Gly1734Ser)
NM_000719.7(CACNA1C):c.5213G>A (p.Gly1738Asp)
NM_000719.7(CACNA1C):c.5308G>A (p.Ala1770Thr) rs912150219
NM_000719.7(CACNA1C):c.5347G>T (p.Gly1783Cys) rs781633980
NM_000719.7(CACNA1C):c.5410G>T (p.Val1804Leu)
NM_000719.7(CACNA1C):c.542A>G (p.Tyr181Cys)
NM_000719.7(CACNA1C):c.5431C>T (p.Leu1811Phe)
NM_000719.7(CACNA1C):c.5503G>A (p.Glu1835Lys) rs1060503442
NM_000719.7(CACNA1C):c.5518A>G (p.Lys1840Glu)
NM_000719.7(CACNA1C):c.5564C>T (p.Ser1855Phe)
NM_000719.7(CACNA1C):c.5619GGA[1] (p.Glu1874del) rs757172314
NM_000719.7(CACNA1C):c.5654G>C (p.Arg1885Thr)
NM_000719.7(CACNA1C):c.5665C>A (p.Arg1889Ser)
NM_000719.7(CACNA1C):c.5711_5712del (p.Leu1904fs)
NM_000719.7(CACNA1C):c.5731G>A (p.Gly1911Arg) rs374528680
NM_000719.7(CACNA1C):c.5773G>T (p.Val1925Phe)
NM_000719.7(CACNA1C):c.5798C>G (p.Ala1933Gly)
NM_000719.7(CACNA1C):c.5817C>T (p.Leu1939=)
NM_000719.7(CACNA1C):c.5820G>C (p.Gln1940His)
NM_000719.7(CACNA1C):c.5839T>C (p.Ser1947Pro)
NM_000719.7(CACNA1C):c.5873C>T (p.Thr1958Ile) rs377173230
NM_000719.7(CACNA1C):c.5903C>A (p.Pro1968His) rs2153865329
NM_000719.7(CACNA1C):c.5917C>T (p.Arg1973Trp) rs774402582
NM_000719.7(CACNA1C):c.6029G>T (p.Arg2010Ile)
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile) rs193922615
NM_000719.7(CACNA1C):c.6060_6065del (p.Gln2021_Ala2022del) rs1569288182
NM_000719.7(CACNA1C):c.6068G>A (p.Gly2023Glu) rs377312264
NM_000719.7(CACNA1C):c.6084G>T (p.Gln2028His) rs767141738
NM_000719.7(CACNA1C):c.6097G>A (p.Ala2033Thr)
NM_000719.7(CACNA1C):c.6117+3A>G
NM_000719.7(CACNA1C):c.6172G>A (p.Val2058Ile)
NM_000719.7(CACNA1C):c.619C>A (p.Leu207Ile)
NM_000719.7(CACNA1C):c.6250G>A (p.Gly2084Arg) rs1060503444
NM_000719.7(CACNA1C):c.6273T>G (p.Asn2091Lys)
NM_000719.7(CACNA1C):c.6275G>C (p.Gly2092Ala) rs755430543
NM_000719.7(CACNA1C):c.6303G>T (p.Arg2101Ser)
NM_000719.7(CACNA1C):c.6320G>A (p.Arg2107Gln)
NM_000719.7(CACNA1C):c.6328G>A (p.Gly2110Ser)
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs) rs771708175
NM_000719.7(CACNA1C):c.6344G>A (p.Gly2115Asp) rs199694744
NM_000719.7(CACNA1C):c.6353G>A (p.Arg2118His)
NM_000719.7(CACNA1C):c.6355G>A (p.Ala2119Thr) rs1470889027
NM_000719.7(CACNA1C):c.6356C>T (p.Ala2119Val)
NM_000719.7(CACNA1C):c.6371G>A (p.Ser2124Asn) rs886049210
NM_000719.7(CACNA1C):c.6394A>G (p.Arg2132Gly) rs766262489
NM_000719.7(CACNA1C):c.65G>A (p.Ser22Asn)
NM_000719.7(CACNA1C):c.664A>T (p.Asn222Tyr)
NM_000719.7(CACNA1C):c.737G>A (p.Arg246Gln)
NM_000719.7(CACNA1C):c.7_9del (p.Asn3del)
NM_000719.7(CACNA1C):c.847G>A (p.Ala283Thr)
NM_000719.7(CACNA1C):c.856G>A (p.Gly286Ser)
NM_000719.7(CACNA1C):c.922C>T (p.Pro308Ser)
NM_000719.7(CACNA1C):c.950C>T (p.Ala317Val) rs533892755
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) rs786205744

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