ClinVar Miner

Variants in gene COL6A2 with conflicting interpretations

See also:
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:
ClinVar version:

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
812 68 0 70 95 1 8 154

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 drug response protective
pathogenic 0 6 1 1 0 0 0
likely pathogenic 6 0 4 0 1 0 0
uncertain significance 2 5 0 76 36 1 1
likely benign 1 0 75 0 64 0 0
benign 0 1 35 64 0 0 0

All variants with conflicting interpretations #

Total variants: 154
Download table as spreadsheet
HGVS dbSNP
NM_001849.3(COL6A2):c.*5G>A rs377195134
NM_001849.3(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757
NM_001849.3(COL6A2):c.1071G>A (p.Pro357=) rs746727003
NM_001849.3(COL6A2):c.1095G>A (p.Glu365=) rs374673302
NM_001849.3(COL6A2):c.1116+22C>T rs111592472
NM_001849.3(COL6A2):c.1117-9C>T rs1057523383
NM_001849.3(COL6A2):c.1140C>T (p.Arg380=) rs144482400
NM_001849.3(COL6A2):c.115+6del rs578127995
NM_001849.3(COL6A2):c.116-34G>A rs117154313
NM_001849.3(COL6A2):c.1161C>T (p.Ile387=) rs140027285
NM_001849.3(COL6A2):c.123C>T (p.Thr41=) rs766840536
NM_001849.3(COL6A2):c.1269G>C (p.Pro423=) rs144136807
NM_001849.3(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501
NM_001849.3(COL6A2):c.1333-10C>G rs199513044
NM_001849.3(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.3(COL6A2):c.1359C>T (p.Arg453=) rs750842859
NM_001849.3(COL6A2):c.138C>T (p.His46=) rs201753549
NM_001849.3(COL6A2):c.1437T>C (p.Ala479=) rs149077114
NM_001849.3(COL6A2):c.1461del (p.Ser488fs) rs398123645
NM_001849.3(COL6A2):c.1465C>T (p.Arg489Trp) rs727502829
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828
NM_001849.3(COL6A2):c.1489C>A (p.Pro497Thr) rs75581470
NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141
NM_001849.3(COL6A2):c.1560C>G (p.Pro520=) rs112197239
NM_001849.3(COL6A2):c.1561C>T (p.Arg521Ter) rs773686174
NM_001849.3(COL6A2):c.1572+3G>A rs372414400
NM_001849.3(COL6A2):c.1599C>T (p.Arg533=) rs373635709
NM_001849.3(COL6A2):c.1605C>T (p.Pro535=) rs377476546
NM_001849.3(COL6A2):c.1606G>A (p.Glu536Lys) rs143338050
NM_001849.3(COL6A2):c.1609-10C>T rs17357592
NM_001849.3(COL6A2):c.1614C>T (p.Gly538=) rs147194375
NM_001849.3(COL6A2):c.1671+10A>G rs915786
NM_001849.3(COL6A2):c.1671+9C>T rs186428044
NM_001849.3(COL6A2):c.1672-12G>A rs113857622
NM_001849.3(COL6A2):c.1674G>A (p.Ala558=) rs144334894
NM_001849.3(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850
NM_001849.3(COL6A2):c.1720G>C (p.Val574Leu) rs142021066
NM_001849.3(COL6A2):c.1735-30A>G rs73382466
NM_001849.3(COL6A2):c.1761C>T (p.Pro587=) rs146311719
NM_001849.3(COL6A2):c.1769C>T (p.Thr590Met) rs142709940
NM_001849.3(COL6A2):c.1779C>T (p.Asp593=) rs139571947
NM_001849.3(COL6A2):c.1817-8C>A rs750444649
NM_001849.3(COL6A2):c.189G>A (p.Thr63=) rs143583433
NM_001849.3(COL6A2):c.1945G>A (p.Ala649Thr) rs142002945
NM_001849.3(COL6A2):c.1970-10C>T rs373369963
NM_001849.3(COL6A2):c.1970-23G>C rs78764604
NM_001849.3(COL6A2):c.2031C>T (p.Asp677=) rs759646708
NM_001849.3(COL6A2):c.2083G>A (p.Glu695Lys) rs377376395
NM_001849.3(COL6A2):c.2136C>T (p.Asp712=) rs114554195
NM_001849.3(COL6A2):c.2160C>G (p.Arg720=) rs61735829
NM_001849.3(COL6A2):c.2163G>A (p.Gln721=) rs16978875
NM_001849.3(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077
NM_001849.3(COL6A2):c.2182G>A (p.Val728Met) rs200585528
NM_001849.3(COL6A2):c.219C>T (p.Phe73=) rs374336669
NM_001849.3(COL6A2):c.2205C>T (p.His735=) rs755147431
NM_001849.3(COL6A2):c.2217C>T (p.Asp739=) rs374795477
NM_001849.3(COL6A2):c.2220T>C (p.Asp740=) rs61735830
NM_001849.3(COL6A2):c.2241G>A (p.Leu747=) rs398123649
NM_001849.3(COL6A2):c.2250C>T (p.Arg750=) rs200096552
NM_001849.3(COL6A2):c.225G>T (p.Pro75=) rs143678454
NM_001849.3(COL6A2):c.2301C>T (p.His767=) rs138371054
NM_001849.3(COL6A2):c.2331C>T (p.Cys777=) rs181711180
NM_001849.3(COL6A2):c.2332G>A (p.Asp778Asn) rs28562813
NM_001849.3(COL6A2):c.2361G>A (p.Thr787=) rs566966690
NM_001849.3(COL6A2):c.2422+7G>A rs773282809
NM_001849.3(COL6A2):c.2422+7G>T rs773282809
NM_001849.3(COL6A2):c.2423-11C>T rs199952790
NM_001849.3(COL6A2):c.2423-9C>G rs368725753
NM_001849.3(COL6A2):c.2488C>T (p.Arg830Trp) rs373072443
NM_001849.3(COL6A2):c.2503G>A (p.Val835Ile) rs117668143
NM_001849.3(COL6A2):c.2517C>T (p.Asp839=) rs113002150
NM_001849.3(COL6A2):c.2523C>T (p.Ser841=) rs149697707
NM_001849.3(COL6A2):c.2565C>T (p.Phe855=) rs774805224
NM_001849.3(COL6A2):c.2575G>A (p.Val859Met) rs370446082
NM_001849.3(COL6A2):c.2582G>A (p.Arg861Gln) rs373813975
NM_001849.3(COL6A2):c.2585G>A (p.Arg862Gln) rs367658663
NM_001849.3(COL6A2):c.2593_2608dup (p.Asp870fs) rs1555877258
NM_001849.3(COL6A2):c.2599C>T (p.Arg867Trp) rs144484744
NM_001849.3(COL6A2):c.2600G>A (p.Arg867Gln) rs61735831
NM_001849.3(COL6A2):c.2605G>A (p.Asp869Asn) rs141021828
NM_001849.3(COL6A2):c.2605G>T (p.Asp869Tyr) rs141021828
NM_001849.3(COL6A2):c.2607C>T (p.Asp869=) rs150219725
NM_001849.3(COL6A2):c.2608G>A (p.Asp870Asn) rs145785230
NM_001849.3(COL6A2):c.2610C>T (p.Asp870=) rs116817879
NM_001849.3(COL6A2):c.2611G>A (p.Asp871Asn) rs387906610
NM_001849.3(COL6A2):c.2634G>A (p.Ala878=) rs143749884
NM_001849.3(COL6A2):c.2661G>A (p.Glu887=) rs148249892
NM_001849.3(COL6A2):c.2683A>C (p.Ser895Arg) rs141233891
NM_001849.3(COL6A2):c.2697G>A (p.Thr899=) rs11554669
NM_001849.3(COL6A2):c.2707G>A (p.Glu903Lys) rs373611722
NM_001849.3(COL6A2):c.2712G>A (p.Ala904=) rs139116075
NM_001849.3(COL6A2):c.2742C>T (p.Phe914=) rs747734639
NM_001849.3(COL6A2):c.2745G>A (p.Ser915=) rs144516266
NM_001849.3(COL6A2):c.2751G>T (p.Val917=) rs111341650
NM_001849.3(COL6A2):c.2769C>T (p.His923=) rs140419176
NM_001849.3(COL6A2):c.2785G>A (p.Val929Met) rs145527336
NM_001849.3(COL6A2):c.2796G>A (p.Pro932=) rs373274913
NM_001849.3(COL6A2):c.2798G>A (p.Arg933His) rs374384263
NM_001849.3(COL6A2):c.2841C>T (p.Leu947=) rs532522222
NM_001849.3(COL6A2):c.2871G>A (p.Leu957=) rs548194162
NM_001849.3(COL6A2):c.2879C>T (p.Ser960Leu) rs750097119
NM_001849.3(COL6A2):c.2880G>A (p.Ser960=) rs375430758
NM_001849.3(COL6A2):c.2883G>A (p.Ala961=) rs369756029
NM_001849.3(COL6A2):c.288C>T (p.Tyr96=) rs61735833
NM_001849.3(COL6A2):c.2893C>T (p.Arg965Cys) rs201188174
NM_001849.3(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.3(COL6A2):c.2904C>T (p.Asn968=) rs143569686
NM_001849.3(COL6A2):c.2935G>A (p.Asp979Asn) rs141579198
NM_001849.3(COL6A2):c.2937C>T (p.Asp979=) rs150716220
NM_001849.3(COL6A2):c.2961G>A (p.Thr987=) rs149845431
NM_001849.3(COL6A2):c.2968C>T (p.Leu990=) rs746012569
NM_001849.3(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588
NM_001849.3(COL6A2):c.2985C>T (p.Ala995=) rs752243349
NM_001849.3(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531
NM_001849.3(COL6A2):c.3018G>A (p.Ala1006=) rs61735832
NM_001849.3(COL6A2):c.3024C>T (p.Pro1008=) rs201635208
NM_001849.3(COL6A2):c.3034G>A (p.Asp1012Asn) rs372431744
NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys) rs141703710
NM_001849.3(COL6A2):c.426G>A (p.Thr142=) rs149480738
NM_001849.3(COL6A2):c.446G>A (p.Arg149His) rs143891262
NM_001849.3(COL6A2):c.459C>T (p.Thr153=) rs764014106
NM_001849.3(COL6A2):c.483C>T (p.Thr161=) rs138312213
NM_001849.3(COL6A2):c.492C>T (p.His164=) rs140929054
NM_001849.3(COL6A2):c.510C>T (p.Cys170=) rs142328765
NM_001849.3(COL6A2):c.511G>A (p.Gly171Arg) rs200710788
NM_001849.3(COL6A2):c.528G>A (p.Gln176=) rs377585812
NM_001849.3(COL6A2):c.567C>T (p.Ala189=) rs563505047
NM_001849.3(COL6A2):c.568G>A (p.Val190Met) rs150877061
NM_001849.3(COL6A2):c.612C>T (p.Ile204=) rs773143298
NM_001849.3(COL6A2):c.628G>A (p.Glu210Lys) rs113017484
NM_001849.3(COL6A2):c.648C>T (p.Tyr216=) rs150004111
NM_001849.3(COL6A2):c.649G>A (p.Ala217Thr) rs530625182
NM_001849.3(COL6A2):c.679G>A (p.Asp227Asn) rs35881321
NM_001849.3(COL6A2):c.714+9C>T rs78822624
NM_001849.3(COL6A2):c.759A>G (p.Glu253=) rs140404854
NM_001849.3(COL6A2):c.786C>G (p.Gly262=) rs145500808
NM_001849.3(COL6A2):c.81G>A (p.Ser27=) rs111639540
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys) rs61735835
NM_001849.3(COL6A2):c.847G>A (p.Gly283Arg) rs267606748
NM_001849.3(COL6A2):c.84G>A (p.Pro28=) rs140890046
NM_001849.3(COL6A2):c.855+1G>C rs1057517988
NM_001849.3(COL6A2):c.94G>A (p.Glu32Lys) rs547648292
NM_001849.3(COL6A2):c.987C>T (p.Thr329=) rs748215430
NM_001849.3(COL6A2):c.988G>A (p.Asp330Asn) rs139399166
NM_001849.4(COL6A2):c.1770+1del rs886044215
NM_001849.4(COL6A2):c.1816+18del rs150275851
NM_001849.4(COL6A2):c.1817-3del rs149954350
NM_001849.4(COL6A2):c.1970-3C>A rs201879417
NM_001849.4(COL6A2):c.1970-9G>A rs747900252
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948
NM_001849.4(COL6A2):c.2566G>A (p.Val856Met) rs368160013
NM_001849.4(COL6A2):c.2795C>T rs117725825
Single allele

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