ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 88
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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.6161A>G (p.Lys2054Arg) rs200588235 0.00032
NM_000719.7(CACNA1C):c.4641C>T (p.Asn1547=) rs202194703 0.00031
NM_000719.7(CACNA1C):c.2460+6G>A rs369246066 0.00029
NM_000719.7(CACNA1C):c.5149G>A (p.Ala1717Thr) rs200865354 0.00029
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln) rs199776761 0.00026
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.3946-12G>A rs41276706 0.00021
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=) rs374857905 0.00019
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile) rs201392574 0.00018
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.6344G>C (p.Gly2115Ala) rs199694744 0.00016
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro) rs369438564 0.00015
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790 0.00014
NM_000719.7(CACNA1C):c.4075-4C>A rs369044605 0.00014
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met) rs727503835 0.00014
NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met) rs763738559 0.00010
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln) rs758166168 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.459C>T (p.Asn153=) rs367638447 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.3200C>T (p.Ala1067Val) rs750998195 0.00007
NM_000719.7(CACNA1C):c.5729G>A (p.Arg1910Gln) rs190288386 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.5423C>T (p.Ala1808Val) rs745997744 0.00006
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met) rs572234918 0.00005
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg) rs186867242 0.00005
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.5737G>A (p.Asp1913Asn) rs181502604 0.00004
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) rs760888275 0.00003
NM_000719.7(CACNA1C):c.2961-5C>T rs781703710 0.00003
NM_000719.7(CACNA1C):c.3295G>A (p.Asp1099Asn) rs771549676 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.50-3C>T rs780161540 0.00003
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) rs761966966 0.00003
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=) rs530924728 0.00003
NM_000719.7(CACNA1C):c.5492C>T (p.Thr1831Met) rs186015395 0.00003
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn) rs373503739 0.00003
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=) rs769295096 0.00002
NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val) rs201049603 0.00002
NM_000719.7(CACNA1C):c.5329C>T (p.Arg1777Cys) rs775251529 0.00002
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=) rs527741368 0.00002
NM_000719.7(CACNA1C):c.-3T>C rs761790520 0.00001
NM_000719.7(CACNA1C):c.1435G>A (p.Val479Met) rs752677964 0.00001
NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met) rs749031775 0.00001
NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys) rs774002530 0.00001
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) rs761378545 0.00001
NM_000719.7(CACNA1C):c.3258C>T (p.Ile1086=) rs757290350 0.00001
NM_000719.7(CACNA1C):c.3375C>T (p.Ile1125=) rs398123521 0.00001
NM_000719.7(CACNA1C):c.363C>T (p.Val121=) rs886042281 0.00001
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys) rs371760034 0.00001
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=) rs757373786 0.00001
NM_000719.7(CACNA1C):c.5929G>A (p.Val1977Ile) rs786205741 0.00001
NM_000719.7(CACNA1C):c.6019G>A (p.Ala2007Thr) rs750411964 0.00001
NM_000719.7(CACNA1C):c.6050T>C (p.Met2017Thr) rs786205742 0.00001
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=) rs750835120 0.00001
NM_000719.7(CACNA1C):c.609G>A (p.Val203=) rs1417477759 0.00001
NM_000719.7(CACNA1C):c.792C>A (p.Ala264=) rs750459136 0.00001
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) rs535608443 0.00001
NM_000719.7(CACNA1C):c.1218-6C>T rs727503833
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.3462C>A (p.Ala1154=)
NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr) rs367895193
NM_000719.7(CACNA1C):c.447A>G (p.Glu149=) rs1297869395
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro) rs201918158

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