ClinVar Miner

Variants in gene ABCC6 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:

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
1481 228 0 79 28 0 21 118

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 40 9 3 1
likely pathogenic 40 0 12 1 1
uncertain significance 9 12 0 26 6
likely benign 3 1 26 0 39
benign 1 1 6 39 0

All variants with conflicting interpretations #

Total variants: 118
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.1233T>C (p.Asn411=) rs9930886 0.31672
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
NM_001171.6(ABCC6):c.2224A>G (p.Ile742Val) rs59593133 0.02501
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01757
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_001171.6(ABCC6):c.2171G>A (p.Arg724Lys) rs58073789 0.01638
NM_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01548
NM_001171.6(ABCC6):c.4208+9G>A rs58760581 0.01119
NM_001171.6(ABCC6):c.473C>T (p.Ala158Val) rs2606921 0.01061
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile) rs60707953 0.00849
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) rs58668703 0.00784
NM_001171.6(ABCC6):c.1815C>T (p.Leu605=) rs61318127 0.00732
NM_001171.6(ABCC6):c.2707G>C (p.Glu903Gln) rs60712230 0.00729
NM_001171.6(ABCC6):c.3207C>T (p.Tyr1069=) rs60975032 0.00478
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00476
NM_001171.6(ABCC6):c.3883-24G>A rs59513011 0.00461
NM_001171.6(ABCC6):c.3980G>A (p.Gly1327Glu) rs57695665 0.00432
NM_001171.6(ABCC6):c.3459C>T (p.Arg1153=) rs59030767 0.00369
NM_001171.6(ABCC6):c.1636-10C>T rs61480102 0.00335
NM_001171.6(ABCC6):c.1284C>T (p.Asn428=) rs57499497 0.00245
NM_001171.6(ABCC6):c.1248C>T (p.Asp416=) rs143487365 0.00236
NM_001171.6(ABCC6):c.3852C>T (p.Gly1284=) rs56982924 0.00230
NM_001171.6(ABCC6):c.*38G>A rs59461468 0.00206
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00191
NM_001171.6(ABCC6):c.3064C>G (p.Gln1022Glu) rs57179857 0.00175
NM_001171.6(ABCC6):c.1263C>T (p.Thr421=) rs114179357 0.00173
NM_001171.6(ABCC6):c.2781C>T (p.Tyr927=) rs61731973 0.00153
NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys) rs11861980 0.00102
NM_001171.6(ABCC6):c.600+23C>T rs72664290 0.00101
NM_001171.6(ABCC6):c.1059C>T (p.Ala353=) rs150016641 0.00093
NM_001171.6(ABCC6):c.2904G>A (p.Leu968=) rs72664287 0.00087
NM_001171.6(ABCC6):c.1353C>T (p.Ser451=) rs57546826 0.00084
NM_001171.6(ABCC6):c.4208+8C>T rs56688069 0.00068
NM_001171.6(ABCC6):c.3978C>T (p.Asp1326=) rs57499803 0.00067
NM_001171.6(ABCC6):c.2628C>A (p.Gly876=) rs115379860 0.00057
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile) rs59157279 0.00054
NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile) rs72653792 0.00044
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr) rs72657689 0.00037
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser) rs66864704 0.00036
NM_001171.6(ABCC6):c.2602G>A (p.Gly868Arg) rs114349489 0.00034
NM_001171.6(ABCC6):c.1639G>A (p.Ala547Thr) rs56877937 0.00032
NM_001171.6(ABCC6):c.496C>T (p.Arg166Cys) rs201766106 0.00030
NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp) rs72653760 0.00029
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu) rs151187637 0.00016
NM_001171.6(ABCC6):c.1944-8G>A rs373223582 0.00016
NM_001171.6(ABCC6):c.2995+6C>T rs373896559 0.00014
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter) rs72653744 0.00012
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln) rs72653772 0.00011
NM_001171.6(ABCC6):c.2140G>A (p.Gly714Arg) rs200513114 0.00011
NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln) rs63751086 0.00011
NM_001171.6(ABCC6):c.2982C>T (p.Leu994=) rs113270297 0.00009
NM_001171.6(ABCC6):c.4015C>T (p.Arg1339Cys) rs28939702 0.00008
NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His) rs553479685 0.00007
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp) rs374086268 0.00007
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp) rs72653788 0.00006
NM_001171.6(ABCC6):c.2542del (p.Met848fs) rs67867306 0.00006
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln) rs60791294 0.00006
NM_001171.6(ABCC6):c.3725C>T (p.Thr1242Met) rs141449320 0.00006
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys) rs63749794 0.00005
NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met) rs63750459 0.00005
NM_001171.6(ABCC6):c.2049G>A (p.Val683=) rs372511255 0.00004
NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter) rs72653705 0.00004
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701 0.00004
NM_001171.6(ABCC6):c.3704G>A (p.Arg1235Gln) rs138700741 0.00004
NM_001171.6(ABCC6):c.3751C>T (p.Pro1251Ser) rs148326870 0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428 0.00004
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln) rs772434460 0.00003
NM_001171.6(ABCC6):c.1769C>T (p.Ser590Phe) rs537233133 0.00003
NM_001171.6(ABCC6):c.179G>A (p.Arg60Gln) rs183648123 0.00003
NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg) rs72653787 0.00003
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln) rs72653794 0.00003
NM_001171.6(ABCC6):c.3415G>A (p.Ala1139Thr) rs63750146 0.00003
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856 0.00003
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His) rs63750622 0.00003
NM_001171.6(ABCC6):c.1774G>A (p.Val592Ile) rs190761354 0.00002
NM_001171.6(ABCC6):c.2248-2_2248-1del rs111113624 0.00002
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln) rs63750457 0.00002
NM_001171.6(ABCC6):c.3735G>T (p.Glu1245Asp) rs281865557 0.00002
NM_001171.6(ABCC6):c.3883-6G>A rs72664214 0.00002
NM_001171.6(ABCC6):c.951C>A (p.Ser317Arg) rs78678589 0.00002
NM_001171.6(ABCC6):c.105del (p.Val37fs) rs72664223 0.00001
NM_001171.6(ABCC6):c.1355C>A (p.Ala452Asp) rs1179736830 0.00001
NM_001171.6(ABCC6):c.1484T>A (p.Leu495His) rs72653769 0.00001
NM_001171.6(ABCC6):c.1526C>G (p.Ala509Gly) rs779408186 0.00001
NM_001171.6(ABCC6):c.1760C>G (p.Ser587Cys) rs527236047 0.00001
NM_001171.6(ABCC6):c.1799G>A (p.Arg600His) rs761433545 0.00001
NM_001171.6(ABCC6):c.2018T>C (p.Leu673Pro) rs67470842 0.00001
NM_001171.6(ABCC6):c.2085C>T (p.Tyr695=) rs199913903 0.00001
NM_001171.6(ABCC6):c.2343G>A (p.Ala781=) rs768106519 0.00001
NM_001171.6(ABCC6):c.3461T>C (p.Val1154Ala) rs775707011 0.00001
NM_001171.6(ABCC6):c.3506+1G>A rs1359856569 0.00001
NM_001171.6(ABCC6):c.3507-1G>A rs72664210 0.00001
NM_001171.6(ABCC6):c.37-1G>A rs72657702 0.00001
NM_001171.6(ABCC6):c.3961G>A (p.Gly1321Ser) rs63749823 0.00001
NM_001171.6(ABCC6):c.4198G>A (p.Glu1400Lys) rs63751241 0.00001
NM_001171.6(ABCC6):c.4279G>A (p.Glu1427Lys) rs756910757 0.00001
NM_001171.6(ABCC6):c.724G>T (p.Glu242Ter) rs72650697 0.00001
NM_001171.6(ABCC6):c.1088_1120del (p.Gln363_Arg373del) rs387906353
NM_001171.6(ABCC6):c.1368C>G (p.Ile456Met) rs141309818
NM_001171.6(ABCC6):c.170A>G (p.His57Arg)
NM_001171.6(ABCC6):c.1777C>T (p.Gln593Ter)
NM_001171.6(ABCC6):c.1943+10G>C rs116092959
NM_001171.6(ABCC6):c.1967_1989del (p.Gly656fs) rs74315130
NM_001171.6(ABCC6):c.2293C>G (p.Arg765Gly) rs776513864
NM_001171.6(ABCC6):c.2432C>T (p.Thr811Met) rs72653796
NM_001171.6(ABCC6):c.2511C>A (p.Tyr837Ter) rs72650702
NM_001171.6(ABCC6):c.2996-11T>G rs2046860754
NM_001171.6(ABCC6):c.301G>T (p.Ala101Ser) rs756608278
NM_001171.6(ABCC6):c.3294C>A (p.Tyr1098Ter) rs371889155
NM_001171.6(ABCC6):c.3712G>C (p.Asp1238His) rs63749796
NM_001171.6(ABCC6):c.3736-4C>T
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs) rs72664220
NM_001171.6(ABCC6):c.4209-2A>C rs1555506740
NM_001171.6(ABCC6):c.4242dup (p.Ala1415fs) rs2046363256
NM_001171.6(ABCC6):c.4404-1G>A
NM_001171.6(ABCC6):c.869G>A (p.Arg290Gln)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.