ClinVar Miner

List of variants in gene CACNA1C reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 110
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HGVS dbSNP gnomAD frequency
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.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.372-15G>A rs55792866 0.02977
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.3387G>A (p.Thr1129=) rs188224114 0.00525
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.1176G>T (p.Gly392=) rs1051360 0.00209
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_000719.7(CACNA1C):c.1669+10G>A rs576194052 0.00175
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.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.4611C>T (p.Arg1537=) rs372702466 0.00088
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
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.4317C>T (p.Asn1439=) rs183192651 0.00058
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.6161A>G (p.Lys2054Arg) rs200588235 0.00032
NM_000719.7(CACNA1C):c.2460+6G>A rs369246066 0.00029
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln) rs199776761 0.00026
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.3946-12G>A rs41276706 0.00021
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=) rs374857905 0.00019
NM_000719.7(CACNA1C):c.6018C>T (p.Ser2006=) rs368817423 0.00019
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile) rs201392574 0.00018
NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=) rs368065584 0.00017
NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=) rs541967618 0.00017
NM_000719.7(CACNA1C):c.4944G>A (p.Ala1648=) rs200330326 0.00016
NM_000719.7(CACNA1C):c.5444+610G>A rs371574216 0.00012
NM_000719.7(CACNA1C):c.1872G>A (p.Leu624=) rs202227691 0.00010
NM_000719.7(CACNA1C):c.865C>A (p.Leu289Ile) rs770311259 0.00010
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843 0.00009
NM_000719.7(CACNA1C):c.5235C>T (p.His1745=) rs201861473 0.00009
NM_000719.7(CACNA1C):c.5550G>A (p.Glu1850=) rs367783859 0.00009
NM_000719.7(CACNA1C):c.798C>T (p.Val266=) rs758394964 0.00009
NM_000719.7(CACNA1C):c.135C>G (p.Thr45=) rs749123185 0.00007
NM_000719.7(CACNA1C):c.2854-4G>A rs113929946 0.00007
NM_000719.7(CACNA1C):c.4068C>T (p.Ser1356=) rs765091519 0.00007
NM_000719.7(CACNA1C):c.5091+3G>A rs372915169 0.00007
NM_000719.7(CACNA1C):c.5729G>A (p.Arg1910Gln) rs190288386 0.00007
NM_000719.7(CACNA1C):c.5785-5C>T rs750451768 0.00006
NM_000719.7(CACNA1C):c.6339C>T (p.Asp2113=) rs374843203 0.00006
NM_000719.7(CACNA1C):c.3946-51C>T rs202216172 0.00005
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=) rs757236915 0.00005
NM_000719.7(CACNA1C):c.1065G>A (p.Thr355=) rs757055492 0.00004
NM_000719.7(CACNA1C):c.1674G>A (p.Thr558=) rs781180544 0.00004
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=) rs202058956 0.00004
NM_000719.7(CACNA1C):c.5136C>T (p.Ser1712=) rs780871697 0.00004
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=) rs530924728 0.00003
NM_000719.7(CACNA1C):c.5444+723C>T rs750984838 0.00003
NM_000719.7(CACNA1C):c.5493G>A (p.Thr1831=) rs368046891 0.00003
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn) rs373503739 0.00003
NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr) rs368700869 0.00002
NM_000719.7(CACNA1C):c.1516T>G (p.Trp506Gly) rs975289385 0.00001
NM_000719.7(CACNA1C):c.153G>A (p.Ser51=) rs563315606 0.00001
NM_000719.7(CACNA1C):c.2220A>G (p.Gly740=) rs940854113 0.00001
NM_000719.7(CACNA1C):c.3459C>T (p.Ile1153=) rs374850501 0.00001
NM_000719.7(CACNA1C):c.5339G>A (p.Arg1780His) rs756829999 0.00001
NM_000719.7(CACNA1C):c.5568A>G (p.Thr1856=) rs113417515 0.00001
NM_000719.7(CACNA1C):c.6021C>T (p.Ala2007=) rs762515457 0.00001
NM_000719.7(CACNA1C):c.6243C>T (p.Ile2081=) rs763666740 0.00001
NM_000719.7(CACNA1C):c.75C>T (p.Pro25=) rs773869181 0.00001
NM_000719.7(CACNA1C):c.1064C>T (p.Thr355Met) rs538694667
NM_000719.7(CACNA1C):c.1161A>G (p.Thr387=)
NM_000719.7(CACNA1C):c.1217+11C>T rs886038364
NM_000719.7(CACNA1C):c.1557C>A (p.Ala519=) rs186720824
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) rs786205782
NM_000719.7(CACNA1C):c.2664G>C (p.Arg888Ser) rs754046062
NM_000719.7(CACNA1C):c.2905T>G (p.Phe969Val)
NM_000719.7(CACNA1C):c.3284A>G (p.Lys1095Arg)
NM_000719.7(CACNA1C):c.3598C>T (p.Arg1200Trp)
NM_000719.7(CACNA1C):c.3886G>A (p.Val1296Ile)
NM_000719.7(CACNA1C):c.3946-28T>C
NM_000719.7(CACNA1C):c.3946-43del
NM_000719.7(CACNA1C):c.3946-46C>T rs112919597
NM_000719.7(CACNA1C):c.3946-59C>G
NM_000719.7(CACNA1C):c.4343G>A (p.Gly1448Asp)
NM_000719.7(CACNA1C):c.447A>G (p.Glu149=) rs1297869395
NM_000719.7(CACNA1C):c.4726+13G>A rs561365937
NM_000719.7(CACNA1C):c.4727-50C>T
NM_000719.7(CACNA1C):c.478-11_478-10del rs750093371
NM_000719.7(CACNA1C):c.5065G>T (p.Ala1689Ser)
NM_000719.7(CACNA1C):c.5214C>T (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5245G>A (p.Val1749Met) rs1556109769
NM_000719.7(CACNA1C):c.5246T>C (p.Val1749Ala)
NM_000719.7(CACNA1C):c.5445-585G>A rs113722042
NM_000719.7(CACNA1C):c.5701C>T (p.Leu1901=)
NM_000719.7(CACNA1C):c.5741T>A (p.Ile1914Asn)
NM_000719.7(CACNA1C):c.5766G>A (p.Leu1922=)
NM_000719.7(CACNA1C):c.5862_5873del (p.Pro1956_Pro1959del) rs781559449
NM_000719.7(CACNA1C):c.59A>G (p.Tyr20Cys)
NM_000719.7(CACNA1C):c.6282C>T (p.Leu2094=)
NM_000719.7(CACNA1C):c.950C>T (p.Ala317Val) rs533892755
NM_001167623.2(CACNA1C):c.1185C>T (p.Phe395=)

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