ClinVar Miner

List of variants in gene CACNA1C studied for Timothy syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 207
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.5445-511= rs10774054 0.99951
NM_000719.7(CACNA1C):c.2853+265G>C rs215983 0.94615
NM_000719.7(CACNA1C):c.1670-52C>T rs2370602 0.82155
NM_000719.7(CACNA1C):c.5445-584A>G rs10774053 0.80326
NM_000719.7(CACNA1C):c.5681-77C>T rs2270373 0.79539
NM_000719.7(CACNA1C):c.4727-231T>C rs7136355 0.76028
NM_000719.7(CACNA1C):c.5445-586C>T rs10848683 0.70684
NM_000719.7(CACNA1C):c.3945+83T>C rs2239127 0.70394
NM_000719.7(CACNA1C):c.3945+96T>C rs2239128 0.70345
NM_000719.7(CACNA1C):c.3945+109C>T rs2239129 0.68534
NM_000719.7(CACNA1C):c.3946-98G>A rs216045 0.66649
NM_000719.7(CACNA1C):c.4399-79C>A rs2302728 0.61634
NM_000719.7(CACNA1C):c.1896-54G>A rs11832738 0.60150
NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=) rs1051375 0.57002
NM_000719.7(CACNA1C):c.4074+36G>A rs1990322 0.56695
NM_000719.7(CACNA1C):c.1114-487A>G rs1008832 0.50604
NM_000719.7(CACNA1C):c.1391-64del rs34277236 0.29223
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.2793+187A>G rs215981 0.26946
NM_000719.7(CACNA1C):c.3718-81T>C rs216007 0.20791
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.3157-90A>G rs758560 0.07002
NM_000719.7(CACNA1C):c.3717+69C>T rs55641425 0.06936
NM_000719.7(CACNA1C):c.372-15G>A rs55792866 0.02977
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=) rs113595214 0.00709
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.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_001167623.2(CACNA1C):c.3883A>G (p.Ile1295Val) rs114851656 0.00169
NM_000719.7(CACNA1C):c.1074G>A (p.Gln358=) rs139842134 0.00113
NM_000719.7(CACNA1C):c.4074+14A>G rs371806132 0.00092
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207 0.00083
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.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) rs200588235 0.00032
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.5975G>T (p.Cys1992Phe) rs375818733 0.00024
NM_000719.7(CACNA1C):c.4957-15C>T rs766975739 0.00016
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.6034C>T (p.Arg2012Trp) rs553500083 0.00013
NM_000719.7(CACNA1C):c.5375A>G (p.Glu1792Gly) rs374177870 0.00012
NM_000719.7(CACNA1C):c.4727-9G>A rs757966245 0.00011
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.5022C>T (p.Thr1674=) rs372300407 0.00010
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln) rs758166168 0.00010
NM_000719.7(CACNA1C):c.5444+719G>A rs765829807 0.00009
NM_000719.7(CACNA1C):c.2854-4G>A rs113929946 0.00007
NM_000719.7(CACNA1C):c.5671G>C (p.Ala1891Pro) rs542914369 0.00007
NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val) rs374991642 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.5411T>C (p.Val1804Ala) rs756492434 0.00006
NM_000719.7(CACNA1C):c.6339C>T (p.Asp2113=) rs374843203 0.00006
NM_000719.7(CACNA1C):c.898A>G (p.Asn300Asp) rs200289321 0.00006
NM_000719.7(CACNA1C):c.959C>T (p.Thr320Met) rs377737331 0.00006
NM_000719.7(CACNA1C):c.2339+18C>T rs778390407 0.00005
NM_000719.7(CACNA1C):c.102G>A (p.Ala34=) rs376345869 0.00004
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.2429C>T (p.Thr810Met) rs772235214 0.00004
NM_000719.7(CACNA1C):c.2637G>A (p.Ala879=) rs199629800 0.00004
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=) rs202058956 0.00004
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) rs531161884 0.00004
NM_000719.7(CACNA1C):c.5277G>A (p.Ser1759=) rs371931644 0.00004
NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser) rs552478740 0.00004
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) rs760888275 0.00003
NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr) rs398123519 0.00003
NM_000719.7(CACNA1C):c.2486A>G (p.Asn829Ser) rs773015884 0.00003
NM_000719.7(CACNA1C):c.285C>T (p.Thr95=) rs768096981 0.00003
NM_000719.7(CACNA1C):c.4289A>C (p.Lys1430Thr) rs759934820 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.5987C>T (p.Ala1996Val) rs749674325 0.00003
NM_000719.7(CACNA1C):c.6064G>C (p.Ala2022Pro) rs758974396 0.00003
NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile) rs769703001 0.00003
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg) rs545511851 0.00002
NM_000719.7(CACNA1C):c.2824A>G (p.Thr942Ala) rs369884505 0.00002
NM_000719.7(CACNA1C):c.4141-605G>A rs1054703481 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.5456G>A (p.Arg1819Gln) rs764212214 0.00002
NM_000719.7(CACNA1C):c.5684G>A (p.Arg1895Gln) rs753954220 0.00002
NM_000719.7(CACNA1C):c.5996C>T (p.Thr1999Ile) rs532551057 0.00002
NM_000719.7(CACNA1C):c.6282C>G (p.Leu2094=) rs1337662531 0.00002
NM_000719.7(CACNA1C):c.71G>A (p.Arg24His) rs200941579 0.00002
NM_000719.7(CACNA1C):c.*2288G>A rs554155021 0.00001
NM_000719.7(CACNA1C):c.-233C>T rs886049148 0.00001
NM_000719.7(CACNA1C):c.1026C>T (p.Gly342=) rs752842357 0.00001
NM_000719.7(CACNA1C):c.137C>T (p.Pro46Leu) rs770830796 0.00001
NM_000719.7(CACNA1C):c.1429G>A (p.Glu477Lys) rs762162937 0.00001
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711 0.00001
NM_000719.7(CACNA1C):c.1703C>T (p.Thr568Met) rs749561588 0.00001
NM_000719.7(CACNA1C):c.1786G>A (p.Val596Met) rs768034509 0.00001
NM_000719.7(CACNA1C):c.2068G>A (p.Asp690Asn) rs369638898 0.00001
NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met) rs749031775 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) rs761378545 0.00001
NM_000719.7(CACNA1C):c.3161A>G (p.Lys1054Arg) rs1305965146 0.00001
NM_000719.7(CACNA1C):c.3246C>T (p.Asp1082=) rs370662635 0.00001
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile) rs766023530 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.4381A>G (p.Met1461Val) rs200206894 0.00001
NM_000719.7(CACNA1C):c.4558C>G (p.Leu1520Val) rs1032623545 0.00001
NM_000719.7(CACNA1C):c.484G>A (p.Val162Met) rs1243482248 0.00001
NM_000719.7(CACNA1C):c.4857C>T (p.Tyr1619=) rs758486779 0.00001
NM_000719.7(CACNA1C):c.4946T>C (p.Leu1649Pro) rs762182784 0.00001
NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr) rs773930851 0.00001
NM_000719.7(CACNA1C):c.5157C>G (p.Pro1719=) rs534589273 0.00001
NM_000719.7(CACNA1C):c.5225C>T (p.Ser1742Leu) rs375571032 0.00001
NM_000719.7(CACNA1C):c.5255C>T (p.Thr1752Ile) rs752694570 0.00001
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys) rs371760034 0.00001
NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala) rs375846068 0.00001
NM_000719.7(CACNA1C):c.579C>T (p.Asn193=) rs561224137 0.00001
NM_000719.7(CACNA1C):c.5894C>T (p.Pro1965Leu) rs958489483 0.00001
NM_000719.7(CACNA1C):c.5900A>G (p.Gln1967Arg) rs1178438128 0.00001
NM_000719.7(CACNA1C):c.6039C>T (p.Pro2013=) rs780157730 0.00001
NM_000719.7(CACNA1C):c.6091G>A (p.Gly2031Ser) rs1464980383 0.00001
NM_000719.7(CACNA1C):c.6328G>T (p.Gly2110Cys) rs778550803 0.00001
NM_000719.7(CACNA1C):c.82G>A (p.Ala28Thr) rs373687005 0.00001
NM_000719.7(CACNA1C):c.941C>T (p.Ser314Phe) rs907730518 0.00001
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) rs535608443 0.00001
NM_000719.7(CACNA1C):c.*1652GAATT[1] rs886049224
NM_000719.7(CACNA1C):c.*5421del rs10713809
NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter) rs1555672574
NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser) rs80315385
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.7(CACNA1C):c.1217+5G>A rs2099768300
NM_000719.7(CACNA1C):c.1381C>G (p.Pro461Ala) rs776242172
NM_000719.7(CACNA1C):c.1390+4A>G
NM_000719.7(CACNA1C):c.13A>C (p.Asn5His) rs886049150
NM_000719.7(CACNA1C):c.1412C>A (p.Thr471Asn) rs1599718556
NM_000719.7(CACNA1C):c.1523G>A (p.Arg508Gln) rs762091177
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) rs786205782
NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp) rs1467561684
NM_000719.7(CACNA1C):c.1853T>G (p.Val618Gly) rs2154593437
NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys) rs1057524804
NM_000719.7(CACNA1C):c.1917C>G (p.Asn639Lys) rs1057524804
NM_000719.7(CACNA1C):c.1917C>T (p.Asn639=) rs1057524804
NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe)
NM_000719.7(CACNA1C):c.2269G>C (p.Ala757Pro) rs560163331
NM_000719.7(CACNA1C):c.2401GAG[1] (p.Glu802del) rs771014370
NM_000719.7(CACNA1C):c.2451del (p.Ala818fs) rs2153231721
NM_000719.7(CACNA1C):c.2530+4C>T rs2153232586
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_000719.7(CACNA1C):c.2636C>T (p.Ala879Val) rs1199713333
NM_000719.7(CACNA1C):c.3061T>C (p.Cys1021Arg) rs1057518301
NM_000719.7(CACNA1C):c.3085A>G (p.Ile1029Val)
NM_000719.7(CACNA1C):c.3097G>A (p.Val1033Met) rs2075018681
NM_000719.7(CACNA1C):c.3281G>A (p.Ser1094Asn) rs1165009288
NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys) rs199473391
NM_000719.7(CACNA1C):c.3460G>A (p.Ala1154Thr) rs1601930985
NM_000719.7(CACNA1C):c.3497T>C (p.Ile1166Thr) rs797044881
NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala) rs2153440081
NM_000719.7(CACNA1C):c.3577G>A (p.Ala1193Thr) rs1251955384
NM_000719.7(CACNA1C):c.3866T>G (p.Leu1289Trp) rs2153572497
NM_000719.7(CACNA1C):c.3946-44C>T rs760982440
NM_000719.7(CACNA1C):c.4074+33del rs34428885
NM_000719.7(CACNA1C):c.4087G>T (p.Val1363Leu) rs1555968941
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly) rs794727587
NM_000719.7(CACNA1C):c.4436T>C (p.Phe1479Ser) rs2096050688
NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=) rs756364065
NM_000719.7(CACNA1C):c.477+100598G>A
NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn) rs786205763
NM_000719.7(CACNA1C):c.4784G>A (p.Arg1595Gln) rs1313283709
NM_000719.7(CACNA1C):c.4828+1G>A rs2153757423
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.5109C>G (p.Phe1703Leu) rs767569416
NM_000719.7(CACNA1C):c.5150C>T (p.Ala1717Val) rs201492706
NM_000719.7(CACNA1C):c.536T>C (p.Ile179Thr) rs1309430190
NM_000719.7(CACNA1C):c.5435G>A (p.Ser1812Asn) rs1556123007
NM_000719.7(CACNA1C):c.5444+584T>G rs2153807364
NM_000719.7(CACNA1C):c.5445-496G>A rs2153815776
NM_000719.7(CACNA1C):c.5485GAG[1] (p.Glu1830del) rs1603457578
NM_000719.7(CACNA1C):c.5528A>G (p.His1843Arg)
NM_000719.7(CACNA1C):c.5619GGA[1] (p.Glu1874del) rs757172314
NM_000719.7(CACNA1C):c.5680G>A (p.Gly1894Ser) rs2097429400
NM_000719.7(CACNA1C):c.5728C>T (p.Arg1910Ter) rs1556291640
NM_000719.7(CACNA1C):c.5741T>G (p.Ile1914Ser) rs1603462676
NM_000719.7(CACNA1C):c.5784+4G>T rs2097478141
NM_000719.7(CACNA1C):c.583T>C (p.Trp195Arg) rs2154562876
NM_000719.7(CACNA1C):c.5852C>G (p.Pro1951Arg) rs762896810
NM_000719.7(CACNA1C):c.5884C>T (p.Arg1962Ter)
NM_000719.7(CACNA1C):c.595G>A (p.Asp199Asn) rs2154562881
NM_000719.7(CACNA1C):c.6018C>A (p.Ser2006Arg) rs368817423
NM_000719.7(CACNA1C):c.6235_6237del (p.Asp2079del) rs886049208
NM_000719.7(CACNA1C):c.6323_6337dup (p.Glu2112_Asp2113insAlaGlyGlyGluGlu)
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs) rs771708175
NM_000719.7(CACNA1C):c.6334G>C (p.Glu2112Gln) rs1279028766
NM_000719.7(CACNA1C):c.6404T>A (p.Val2135Asp)
NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala) rs2099444326
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) rs786205744
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg) rs786205745
NM_001167623.2(CACNA1C):c.1216G>C (p.Gly406Arg) rs786205745

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