ClinVar Miner

Variants in gene CACNA1C with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 40
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HGVS dbSNP gnomAD frequency
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.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.6272A>G (p.Asn2091Ser) rs201090446 0.00074
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.5444G>C (p.Arg1815Thr) rs374425919 0.00033
NM_000719.7(CACNA1C):c.2460+6G>A rs369246066 0.00029
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.1485C>A (p.His495Gln) rs373335068 0.00024
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) rs375818733 0.00024
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.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790 0.00014
NM_000719.7(CACNA1C):c.4624-8G>A rs529345041 0.00010
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.5529T>C (p.His1843=) rs371831239 0.00008
NM_000719.7(CACNA1C):c.959C>T (p.Thr320Met) rs377737331 0.00006
NM_000719.7(CACNA1C):c.101C>T (p.Ala34Val) rs551396698 0.00005
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met) rs572234918 0.00005
NM_000719.7(CACNA1C):c.1477C>A (p.Leu493Met) rs376530064 0.00004
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881 0.00004
NM_000719.7(CACNA1C):c.2813T>C (p.Ile938Thr) rs377165829 0.00003
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651 0.00003
NM_000719.7(CACNA1C):c.3946-45C>G rs201551454 0.00003
NM_000719.7(CACNA1C):c.5140G>A (p.Gly1714Ser) rs533676935 0.00003
NM_000719.7(CACNA1C):c.1218-6C>T rs727503833
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058

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