ClinVar Miner

Variants in gene CACNA1E with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
2188 223 0 68 49 0 5 120

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 1 0 0
likely pathogenic 3 0 3 1 1
uncertain significance 1 3 0 35 15
likely benign 0 1 35 0 65
benign 0 1 15 65 0

All variants with conflicting interpretations #

Total variants: 120
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001205293.3(CACNA1E):c.2992G>A (p.Gly998Ser) rs41304253 0.02916
NM_001205293.3(CACNA1E):c.4605+12A>C rs9662282 0.01447
NM_001205293.3(CACNA1E):c.373-14C>T rs4083900 0.00898
NM_001205293.3(CACNA1E):c.4606-7T>C rs74444271 0.00757
NM_001205293.3(CACNA1E):c.3065C>T (p.Thr1022Met) rs74127835 0.00634
NM_001205293.3(CACNA1E):c.3263-16C>T rs74127837 0.00519
NM_001205293.3(CACNA1E):c.1956+19G>A rs111734002 0.00431
NM_001205293.3(CACNA1E):c.4329+14G>A rs138957815 0.00365
NM_001205293.3(CACNA1E):c.1308C>G (p.Ser436=) rs114088252 0.00360
NM_001205293.3(CACNA1E):c.2588G>A (p.Arg863Gln) rs202202209 0.00332
NM_001205293.3(CACNA1E):c.6515A>G (p.Tyr2172Cys) rs74695054 0.00322
NM_001205293.3(CACNA1E):c.2298-16C>T rs189050461 0.00321
NM_001205293.3(CACNA1E):c.1119G>A (p.Gln373=) rs111619313 0.00307
NM_001205293.3(CACNA1E):c.4734C>T (p.Phe1578=) rs115093623 0.00262
NM_001205293.3(CACNA1E):c.1023T>C (p.Phe341=) rs200603172 0.00219
NM_001205293.3(CACNA1E):c.57G>A (p.Ser19=) rs370950694 0.00174
NM_001205293.3(CACNA1E):c.3207C>T (p.Ser1069=) rs200952541 0.00157
NM_001205293.3(CACNA1E):c.4548C>T (p.Ala1516=) rs201602244 0.00139
NM_001205293.3(CACNA1E):c.2328C>T (p.Ser776=) rs182071786 0.00127
NM_001205293.3(CACNA1E):c.2756G>A (p.Arg919Gln) rs201406071 0.00113
NM_001205293.3(CACNA1E):c.6537G>A (p.Ala2179=) rs375338599 0.00111
NM_001205293.3(CACNA1E):c.1935A>G (p.Ala645=) rs183395195 0.00109
NM_001205293.3(CACNA1E):c.4905C>T (p.Asp1635=) rs183065185 0.00102
NM_001205293.3(CACNA1E):c.813G>A (p.Gln271=) rs115927746 0.00085
NM_001205293.3(CACNA1E):c.3837C>T (p.Phe1279=) rs41315709 0.00079
NM_001205293.3(CACNA1E):c.2967G>A (p.Val989=) rs375018770 0.00068
NM_001205293.3(CACNA1E):c.5711C>T (p.Pro1904Leu) rs191359537 0.00068
NM_001205293.3(CACNA1E):c.4545C>T (p.Ile1515=) rs182225778 0.00064
NM_001205293.3(CACNA1E):c.2124C>T (p.Asn708=) rs372607441 0.00061
NM_001205293.3(CACNA1E):c.6470G>A (p.Arg2157Gln) rs2480373 0.00057
NM_001205293.3(CACNA1E):c.6832A>G (p.Met2278Val) rs200469194 0.00050
NM_001205293.3(CACNA1E):c.2681C>T (p.Pro894Leu) rs200322209 0.00048
NM_001205293.3(CACNA1E):c.6536C>T (p.Ala2179Val) rs199885694 0.00044
NM_001205293.3(CACNA1E):c.6359G>A (p.Arg2120Lys) rs200113695 0.00043
NM_001205293.3(CACNA1E):c.2492G>C (p.Arg831Thr) rs773503365 0.00042
NM_001205293.3(CACNA1E):c.3012C>A (p.Thr1004=) rs377234151 0.00029
NM_001205293.3(CACNA1E):c.5710C>A (p.Pro1904Thr) rs149629433 0.00028
NM_001205293.3(CACNA1E):c.183C>T (p.Asn61=) rs372445856 0.00024
NM_001205293.3(CACNA1E):c.4816-3C>T rs368553615 0.00024
NM_001205293.3(CACNA1E):c.5239G>A (p.Val1747Ile) rs368636412 0.00024
NM_001205293.3(CACNA1E):c.6721G>A (p.Ala2241Thr) rs202118773 0.00024
NM_001205293.3(CACNA1E):c.3543G>A (p.Glu1181=) rs371345680 0.00021
NM_001205293.3(CACNA1E):c.2776G>A (p.Val926Ile) rs370910420 0.00020
NM_001205293.3(CACNA1E):c.6325G>C (p.Ala2109Pro) rs201622587 0.00016
NM_001205293.3(CACNA1E):c.6500G>A (p.Arg2167Gln) rs370385055 0.00016
NM_001205293.3(CACNA1E):c.1569G>A (p.Met523Ile) rs144517660 0.00011
NM_001205293.3(CACNA1E):c.2260C>T (p.His754Tyr) rs142822925 0.00010
NM_001205293.3(CACNA1E):c.3723C>T (p.Asn1241=) rs762242384 0.00010
NM_001205293.3(CACNA1E):c.6920C>T (p.Thr2307Met) rs564755599 0.00010
NM_001205293.3(CACNA1E):c.6625G>A (p.Glu2209Lys) rs201030442 0.00009
NM_001205293.3(CACNA1E):c.2470C>T (p.Pro824Ser) rs1284163110 0.00008
NM_001205293.3(CACNA1E):c.3055G>A (p.Val1019Met) rs547399351 0.00008
NM_001205293.3(CACNA1E):c.3361C>T (p.Arg1121Cys) rs376475241 0.00007
NM_001205293.3(CACNA1E):c.3147C>T (p.Ser1049=) rs750902818 0.00006
NM_001205293.3(CACNA1E):c.969A>G (p.Gly323=) rs555540452 0.00006
NM_001205293.3(CACNA1E):c.3457C>T (p.Arg1153Cys) rs372912168 0.00005
NM_001205293.3(CACNA1E):c.3491C>T (p.Ala1164Val) rs377232916 0.00005
NM_001205293.3(CACNA1E):c.2759G>A (p.Arg920His) rs377338098 0.00004
NM_001205293.3(CACNA1E):c.2770C>T (p.Arg924Cys) rs757890592 0.00004
NM_001205293.3(CACNA1E):c.6878C>T (p.Pro2293Leu) rs750079172 0.00004
NM_001205293.3(CACNA1E):c.2518_2529del (p.Leu840_Glu843del) rs1327484784 0.00003
NM_001205293.3(CACNA1E):c.5872G>A (p.Gly1958Arg) rs376329789 0.00003
NM_001205293.3(CACNA1E):c.6122G>A (p.Arg2041Gln) rs748537145 0.00003
NM_001205293.3(CACNA1E):c.6841G>A (p.Gly2281Arg) rs746705934 0.00003
NM_001205293.3(CACNA1E):c.2635C>T (p.Arg879Trp) rs771126920 0.00002
NM_001205293.3(CACNA1E):c.312C>T (p.Ile104=) rs760287778 0.00002
NM_001205293.3(CACNA1E):c.6676C>T (p.Arg2226Cys) rs746785304 0.00002
NM_001205293.3(CACNA1E):c.1883+9C>G rs1488129029 0.00001
NM_001205293.3(CACNA1E):c.2298G>A (p.Leu766=) rs1257129141 0.00001
NM_001205293.3(CACNA1E):c.2425A>G (p.Asn809Asp) rs958027601 0.00001
NM_001205293.3(CACNA1E):c.2438C>T (p.Pro813Leu) rs186600513 0.00001
NM_001205293.3(CACNA1E):c.2460C>T (p.Leu820=) rs1373774924 0.00001
NM_001205293.3(CACNA1E):c.2779A>G (p.Arg927Gly) rs1249717519 0.00001
NM_001205293.3(CACNA1E):c.2810C>T (p.Ser937Phe) rs1304893896 0.00001
NM_001205293.3(CACNA1E):c.3275C>T (p.Thr1092Met) rs1382064469 0.00001
NM_001205293.3(CACNA1E):c.3423-4G>A rs1212405193 0.00001
NM_001205293.3(CACNA1E):c.3719+6T>A rs1656338337 0.00001
NM_001205293.3(CACNA1E):c.4186C>T (p.Arg1396Cys) rs770435124 0.00001
NM_001205293.3(CACNA1E):c.4565C>T (p.Ser1522Phe) rs576927174 0.00001
NM_001205293.3(CACNA1E):c.4606-3C>T rs1037223207 0.00001
NM_001205293.3(CACNA1E):c.4777A>G (p.Ile1593Val) rs1159957403 0.00001
NM_001205293.3(CACNA1E):c.50G>A (p.Gly17Glu) rs780589733 0.00001
NM_001205293.3(CACNA1E):c.5791G>A (p.Gly1931Ser) rs1238103479 0.00001
NM_001205293.3(CACNA1E):c.6346C>T (p.Arg2116Cys) rs765523959 0.00001
NM_001205293.3(CACNA1E):c.6553C>T (p.Pro2185Ser) rs548645440 0.00001
NM_001205293.3(CACNA1E):c.6641C>T (p.Pro2214Leu) rs767278261 0.00001
NM_001205293.3(CACNA1E):c.6741G>A (p.Glu2247=) rs1462979230 0.00001
NM_001205293.3(CACNA1E):c.6806C>A (p.Ala2269Asp) rs2525534950 0.00001
NM_001205293.3(CACNA1E):c.6853C>T (p.Arg2285Trp) rs769784112 0.00001
NM_001205293.3(CACNA1E):c.1053C>A (p.Ser351=) rs201080304
NM_001205293.3(CACNA1E):c.1053C>T (p.Ser351=) rs201080304
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001205293.3(CACNA1E):c.1215C>A (p.Ser405=) rs35265801
NM_001205293.3(CACNA1E):c.1638+10C>A rs371576889
NM_001205293.3(CACNA1E):c.176G>A (p.Arg59Gln) rs535592986
NM_001205293.3(CACNA1E):c.2094C>A (p.Phe698Leu) rs1445829303
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.2177A>T (p.Lys726Ile) rs2102509840
NM_001205293.3(CACNA1E):c.2545C>A (p.Arg849Ser)
NM_001205293.3(CACNA1E):c.265C>T (p.Pro89Ser) rs1663550401
NM_001205293.3(CACNA1E):c.3011C>A (p.Thr1004Asn) rs1655719165
NM_001205293.3(CACNA1E):c.3233A>G (p.Asp1078Gly) rs1655753199
NM_001205293.3(CACNA1E):c.3337AAG[2] (p.Lys1115del) rs1306776407
NM_001205293.3(CACNA1E):c.3544C>T (p.Arg1182Cys) rs759093976
NM_001205293.3(CACNA1E):c.372G>A (p.Leu124=) rs777684224
NM_001205293.3(CACNA1E):c.4615C>T (p.Arg1539Ter) rs2102718189
NM_001205293.3(CACNA1E):c.4692G>A (p.Leu1564=) rs2102723150
NM_001205293.3(CACNA1E):c.4741G>T (p.Ala1581Ser) rs1658762654
NM_001205293.3(CACNA1E):c.4882-6_4882-4del rs560116244
NM_001205293.3(CACNA1E):c.5045C>G (p.Thr1682Ser) rs775398717
NM_001205293.3(CACNA1E):c.5267+5G>A rs2102796431
NM_001205293.3(CACNA1E):c.5325A>G (p.Leu1775=)
NM_001205293.3(CACNA1E):c.5470G>A (p.Gly1824Ser) rs1660627756
NM_001205293.3(CACNA1E):c.5762T>G (p.Leu1921Arg) rs770750685
NM_001205293.3(CACNA1E):c.5820A>C (p.Pro1940=) rs35611740
NM_001205293.3(CACNA1E):c.586C>T (p.Arg196Trp) rs1651121815
NM_001205293.3(CACNA1E):c.5898+6T>G rs1661213734
NM_001205293.3(CACNA1E):c.6229C>T (p.Arg2077Cys) rs370905391
NM_001205293.3(CACNA1E):c.6883A>T (p.Met2295Leu) rs377536482
NM_001205293.3(CACNA1E):c.6905A>G (p.Asn2302Ser) rs1662051174

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