ClinVar Miner

List of variants in gene CACNA1C reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 52
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HGVS dbSNP gnomAD frequency
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.1794C>T (p.Gly598=) rs116491041 0.00200
NM_000719.7(CACNA1C):c.4624-9C>T rs377568567 0.00163
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.3049-10C>T rs186741807 0.00093
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207 0.00083
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=) rs375534041 0.00062
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896 0.00036
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=) rs200847105 0.00027
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456 0.00025
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=) rs200283756 0.00023
NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=) rs112170830 0.00020
NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=) rs368065584 0.00017
NM_000719.7(CACNA1C):c.5119G>A (p.Val1707Ile) rs147896322 0.00016
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105 0.00012
NM_000719.7(CACNA1C):c.5235C>T (p.His1745=) rs201861473 0.00009
NM_000719.7(CACNA1C):c.906G>A (p.Glu302=) rs367860917 0.00009
NM_000719.7(CACNA1C):c.5284G>C (p.Gly1762Arg) rs374863121 0.00008
NM_000719.7(CACNA1C):c.135C>G (p.Thr45=) rs749123185 0.00007
NM_000719.7(CACNA1C):c.4068C>T (p.Ser1356=) rs765091519 0.00007
NM_000719.7(CACNA1C):c.4500C>A (p.Ile1500=) rs752697651 0.00006
NM_000719.7(CACNA1C):c.990G>A (p.Thr330=) rs371837699 0.00005
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=) rs398123517 0.00004
NM_000719.7(CACNA1C):c.4128G>A (p.Val1376=) rs377173101 0.00004
NM_000719.7(CACNA1C):c.4170C>T (p.Thr1390=) rs587780878 0.00004
NM_000719.7(CACNA1C):c.5382C>T (p.His1794=) rs377680168 0.00003
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=) rs769295096 0.00002
NM_000719.7(CACNA1C):c.5148C>T (p.Ser1716=) rs371262001 0.00002
NM_000719.7(CACNA1C):c.5217C>T (p.Asp1739=) rs864622139 0.00002
NM_000719.7(CACNA1C):c.864G>A (p.Glu288=) rs749309131 0.00002
NM_000719.7(CACNA1C):c.1251C>T (p.Ala417=) rs751902029 0.00001
NM_000719.7(CACNA1C):c.153G>A (p.Ser51=) rs563315606 0.00001
NM_000719.7(CACNA1C):c.168C>T (p.Ile56=) rs763760402 0.00001
NM_000719.7(CACNA1C):c.2451C>T (p.Pro817=) rs1257316721 0.00001
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=) rs757373786 0.00001
NM_000719.7(CACNA1C):c.6019G>A (p.Ala2007Thr) rs750411964 0.00001
NM_000719.7(CACNA1C):c.1391-2480G>A
NM_000719.7(CACNA1C):c.1473C>T (p.Ala491=)
NM_000719.7(CACNA1C):c.1614G>T (p.Thr538=)
NM_000719.7(CACNA1C):c.18G>T (p.Thr6=)
NM_000719.7(CACNA1C):c.2397C>T (p.Ser799=) rs1440491763
NM_000719.7(CACNA1C):c.309C>T (p.Ala103=) rs757538469
NM_000719.7(CACNA1C):c.4185G>A (p.Arg1395=) rs2153668917
NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=) rs756364065
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro) rs201918158
NM_000719.7(CACNA1C):c.5444+669G>A
NM_000719.7(CACNA1C):c.5444+675G>A
NM_000719.7(CACNA1C):c.6117+11C>T

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