ClinVar Miner

List of variants in gene CACNA1C studied for Brugada syndrome

Included ClinVar conditions (45):
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Gene type:
ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
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.5360C>T (p.Thr1787Met) rs192749597 0.00353
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
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.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.5444G>C (p.Arg1815Thr) rs374425919 0.00033
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.1485C>A (p.His495Gln) rs373335068 0.00024
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.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.5717G>A (p.Arg1906Gln) rs758166168 0.00010
NM_000719.7(CACNA1C):c.5444+719G>A rs765829807 0.00009
NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met) rs763738559 0.00008
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.1520G>A (p.Arg507His) rs768830617 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.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.4956+5G>C rs758948589 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.*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.130C>G (p.Pro44Ala) rs1057518456 0.00001
NM_000719.7(CACNA1C):c.1429G>A (p.Glu477Lys) rs762162937 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.247C>T (p.Arg83Trp) rs886039214 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.4943C>T (p.Ala1648Val) rs767199033 0.00001
NM_000719.7(CACNA1C):c.5157C>G (p.Pro1719=) rs534589273 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.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.116C>T (p.Ala39Val) rs121912776
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.7(CACNA1C):c.1276G>A (p.Glu426Lys)
NM_000719.7(CACNA1C):c.1381C>G (p.Pro461Ala) rs776242172
NM_000719.7(CACNA1C):c.13A>C (p.Asn5His) rs886049150
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) rs786205782
NM_000719.7(CACNA1C):c.1832T>C (p.Met611Thr)
NM_000719.7(CACNA1C):c.200G>A (p.Ser67Asn) rs2083420296
NM_000719.7(CACNA1C):c.2181G>T (p.Met727Ile)
NM_000719.7(CACNA1C):c.2401GAG[1] (p.Glu802del) rs771014370
NM_000719.7(CACNA1C):c.2409G>T (p.Lys803Asn)
NM_000719.7(CACNA1C):c.2636C>T (p.Ala879Val) rs1199713333
NM_000719.7(CACNA1C):c.2854-11C>G rs2153406175
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.3487G>A (p.Gly1163Ser)
NM_000719.7(CACNA1C):c.3577G>A (p.Ala1193Thr) rs1251955384
NM_000719.7(CACNA1C):c.3946-44C>T rs760982440
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.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.5150C>T (p.Ala1717Val) rs201492706
NM_000719.7(CACNA1C):c.5284G>A (p.Gly1762Ser)
NM_000719.7(CACNA1C):c.536T>C (p.Ile179Thr) rs1309430190
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.5741T>G (p.Ile1914Ser) rs1603462676
NM_000719.7(CACNA1C):c.5784+4G>T rs2097478141
NM_000719.7(CACNA1C):c.5852C>G (p.Pro1951Arg) rs762896810
NM_000719.7(CACNA1C):c.5953AGC[1] (p.Ser1986del)
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.6329dup (p.Glu2111fs) rs771708175
NM_000719.7(CACNA1C):c.6334G>C (p.Glu2112Gln) rs1279028766
NM_000719.7(CACNA1C):c.694G>C (p.Asp232His) rs376872233
NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala) rs2099444326
NM_000719.7(CACNA1C):c.794T>A (p.Met265Lys)
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) rs786205744
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg) rs786205745

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