ClinVar Miner

List of variants in gene CACNA1C reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133 0.00120
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.4611C>T (p.Arg1537=) rs372702466 0.00088
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.1359C>T (p.Asp453=) rs200330469 0.00063
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=) rs375534041 0.00062
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) rs184684058 0.00045
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.4641C>T (p.Asn1547=) rs202194703 0.00031
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456 0.00025
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=) rs370576211 0.00025
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=) rs374857905 0.00019
NM_000719.7(CACNA1C):c.4140+4G>A rs111442547 0.00018
NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=) rs541967618 0.00017
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro) rs369438564 0.00015
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met) rs727503835 0.00014
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) rs370432385 0.00011
NM_000719.7(CACNA1C):c.4624-8G>A rs529345041 0.00010
NM_000719.7(CACNA1C):c.1341C>T (p.Ile447=) rs377643814 0.00009
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843 0.00009
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568 0.00009
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) rs549476254 0.00009
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=) rs369079645 0.00009
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) rs371831239 0.00008
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557 0.00006
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=) rs398123517 0.00004
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881 0.00004
NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr) rs398123519 0.00003
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651 0.00003
NM_000719.7(CACNA1C):c.4727-10C>T rs749903718 0.00003
NM_000719.7(CACNA1C):c.50-3C>T rs780161540 0.00003
NM_000719.7(CACNA1C):c.5091+8G>A rs768117202 0.00003
NM_000719.7(CACNA1C):c.5140G>A (p.Gly1714Ser) rs533676935 0.00003
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=) rs530924728 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_000719.7(CACNA1C):c.3156+6G>C rs398123520 0.00002
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=) rs527741368 0.00002
NM_000719.7(CACNA1C):c.71G>A (p.Arg24His) rs200941579 0.00002
NM_000719.7(CACNA1C):c.1113+4C>T rs747800763 0.00001
NM_000719.7(CACNA1C):c.1752C>T (p.Phe584=) rs886043677 0.00001
NM_000719.7(CACNA1C):c.2068G>A (p.Asp690Asn) rs369638898 0.00001
NM_000719.7(CACNA1C):c.2073C>T (p.Asn691=) rs794727117 0.00001
NM_000719.7(CACNA1C):c.3375C>T (p.Ile1125=) rs398123521 0.00001
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln) rs368861681 0.00001
NM_000719.7(CACNA1C):c.363C>T (p.Val121=) rs886042281 0.00001
NM_000719.7(CACNA1C):c.4309C>T (p.Pro1437Ser) rs398123522 0.00001
NM_000719.7(CACNA1C):c.5202C>T (p.Gly1734=) rs769124319 0.00001
NM_000719.7(CACNA1C):c.53C>T (p.Ser18Phe) rs1216229121 0.00001
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=) rs757373786 0.00001
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=) rs750835120 0.00001
NM_000719.7(CACNA1C):c.6338A>C (p.Asp2113Ala) rs972053240 0.00001
NM_000719.7(CACNA1C):c.1218-6C>T rs727503833
NM_000719.7(CACNA1C):c.1253G>C (p.Arg418Pro) rs398123516
NM_000719.7(CACNA1C):c.1385G>A (p.Arg462Gln) rs794727961
NM_000719.7(CACNA1C):c.2234T>C (p.Leu745Pro) rs398123518
NM_000719.7(CACNA1C):c.2251A>G (p.Ile751Val) rs794727167
NM_000719.7(CACNA1C):c.242G>A (p.Arg81Gln) rs786205767
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.3373A>G (p.Ile1125Val) rs727503834
NM_000719.7(CACNA1C):c.3671del (p.Leu1224fs) rs886043670
NM_000719.7(CACNA1C):c.4727-6C>T rs886042224
NM_000719.7(CACNA1C):c.4760C>T (p.Ala1587Val) rs751224055
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5435G>A (p.Ser1812Asn) rs1556123007
NM_000719.7(CACNA1C):c.5706A>G (p.Glu1902=) rs537002656

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