ClinVar Miner

Variants in gene ABCA1 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
885 157 0 51 43 0 2 89

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 1 0 0 1
likely pathogenic 1 0 1 0 0
uncertain significance 0 1 0 33 17
likely benign 0 0 33 0 50
benign 1 0 17 50 0

All variants with conflicting interpretations #

Total variants: 89
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005502.4(ABCA1):c.1195-28C>T rs73663563 0.01059
NM_005502.4(ABCA1):c.1635C>T (p.Ser545=) rs9282539 0.00886
NM_005502.4(ABCA1):c.3159T>G (p.Val1053=) rs35871586 0.00751
NM_005502.4(ABCA1):c.2814G>A (p.Gly938=) rs9282546 0.00556
NM_005502.4(ABCA1):c.2602G>A (p.Glu868Lys) rs35207495 0.00496
NM_005502.4(ABCA1):c.634T>A (p.Ser212Thr) rs115216814 0.00424
NM_005502.4(ABCA1):c.651A>G (p.Leu217=) rs9282538 0.00399
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala) rs9282543 0.00352
NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro) rs35819696 0.00289
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln) rs142688906 0.00227
NM_005502.4(ABCA1):c.2089G>A (p.Ala697Thr) rs114620717 0.00215
NM_005502.4(ABCA1):c.5376C>T (p.Thr1792=) rs13306077 0.00198
NM_005502.4(ABCA1):c.2338-17T>C rs182899836 0.00192
NM_005502.4(ABCA1):c.5747A>C (p.Glu1916Ala) rs114719973 0.00175
NM_005502.4(ABCA1):c.2328G>C (p.Lys776Asn) rs138880920 0.00166
NM_005502.4(ABCA1):c.1524C>T (p.Asn508=) rs142239617 0.00160
NM_005502.4(ABCA1):c.2543-3C>T rs139457469 0.00159
NM_005502.4(ABCA1):c.2730T>C (p.Asp910=) rs142473861 0.00145
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe) rs76881554 0.00145
NM_005502.4(ABCA1):c.5301T>C (p.Tyr1767=) rs145246003 0.00141
NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu) rs145183203 0.00121
NM_005502.4(ABCA1):c.1977C>T (p.Ile659=) rs34083760 0.00095
NM_005502.4(ABCA1):c.720+6T>C rs188308962 0.00081
NM_005502.4(ABCA1):c.3053A>G (p.Asp1018Gly) rs140365800 0.00072
NM_005502.4(ABCA1):c.3544G>A (p.Ala1182Thr) rs143180998 0.00061
NM_005502.4(ABCA1):c.99A>G (p.Leu33=) rs141151519 0.00060
NM_005502.4(ABCA1):c.5636+18A>C rs111671370 0.00056
NM_005502.4(ABCA1):c.1055-7T>C rs199586194 0.00055
NM_005502.4(ABCA1):c.2115+17C>T rs371944946 0.00054
NM_005502.4(ABCA1):c.3099G>C (p.Leu1033=) rs144726669 0.00046
NM_005502.4(ABCA1):c.5039G>A (p.Arg1680Gln) rs150125857 0.00032
NM_005502.4(ABCA1):c.2660G>T (p.Cys887Phe) rs187652566 0.00031
NM_005502.4(ABCA1):c.1486C>T (p.Arg496Trp) rs147675550 0.00029
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His) rs146292819 0.00029
NM_005502.4(ABCA1):c.3204C>T (p.Arg1068=) rs55814314 0.00028
NM_005502.4(ABCA1):c.1028C>T (p.Ala343Val) rs200030513 0.00022
NM_005502.4(ABCA1):c.2444A>G (p.Glu815Gly) rs145582736 0.00017
NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His) rs116034780 0.00017
NM_005502.4(ABCA1):c.4155C>T (p.Asn1385=) rs367846898 0.00016
NM_005502.4(ABCA1):c.4773+6C>T rs368667473 0.00016
NM_005502.4(ABCA1):c.5034G>A (p.Gln1678=) rs13306075 0.00015
NM_005502.4(ABCA1):c.1780G>A (p.Ala594Thr) rs199655961 0.00014
NM_005502.4(ABCA1):c.3768G>A (p.Gly1256=) rs140160885 0.00014
NM_005502.4(ABCA1):c.66+9G>T rs562165874 0.00012
NM_005502.4(ABCA1):c.1716G>A (p.Gly572=) rs143299210 0.00011
NM_005502.4(ABCA1):c.4764T>C (p.Asn1588=) rs9282547 0.00010
NM_005502.4(ABCA1):c.2903T>C (p.Met968Thr) rs776604878 0.00009
NM_005502.4(ABCA1):c.3524C>T (p.Thr1175Met) rs140130551 0.00009
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu) rs762770081 0.00007
NM_005502.4(ABCA1):c.5690G>A (p.Arg1897Gln) rs564049659 0.00007
NM_005502.4(ABCA1):c.1997G>A (p.Arg666Gln) rs142374413 0.00006
NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val) rs753324965 0.00006
NM_005502.4(ABCA1):c.5757+12C>T rs769533549 0.00005
NM_005502.4(ABCA1):c.3757G>A (p.Glu1253Lys) rs138056193 0.00004
NM_005502.4(ABCA1):c.302+17G>T rs367919230 0.00003
NM_005502.4(ABCA1):c.3515A>G (p.Glu1172Gly) rs142877738 0.00003
NM_005502.4(ABCA1):c.725C>G (p.Thr242Arg) rs775987152 0.00003
NM_005502.4(ABCA1):c.3865G>A (p.Asp1289Asn) rs137854500 0.00002
NM_005502.4(ABCA1):c.4050+8G>A rs371581830 0.00002
NM_005502.4(ABCA1):c.2014C>T (p.Arg672Trp) rs759576379 0.00001
NM_005502.4(ABCA1):c.2301G>T (p.Trp767Cys) rs780611537 0.00001
NM_005502.4(ABCA1):c.4482A>G (p.Ala1494=) rs1250688041 0.00001
NM_005502.4(ABCA1):c.1125G>C (p.Leu375=)
NM_005502.4(ABCA1):c.1312-16C>T
NM_005502.4(ABCA1):c.1395G>A (p.Ala465=)
NM_005502.4(ABCA1):c.2169C>T (p.Ser723=)
NM_005502.4(ABCA1):c.2472G>A (p.Ser824=) rs533413438
NM_005502.4(ABCA1):c.2748C>T (p.Val916=)
NM_005502.4(ABCA1):c.2799C>T (p.Gly933=)
NM_005502.4(ABCA1):c.303-42_303-5dup rs539194794
NM_005502.4(ABCA1):c.3104-5dup rs746119307
NM_005502.4(ABCA1):c.3270C>T (p.His1090=)
NM_005502.4(ABCA1):c.345C>T (p.Tyr115=)
NM_005502.4(ABCA1):c.3554A>G (p.Asn1185Ser) rs148328750
NM_005502.4(ABCA1):c.357C>A (p.Asp119Glu) rs763744498
NM_005502.4(ABCA1):c.4290G>A (p.Gln1430=)
NM_005502.4(ABCA1):c.4464+12T>C
NM_005502.4(ABCA1):c.4536G>T (p.Thr1512=) rs41277763
NM_005502.4(ABCA1):c.4559+12C>T
NM_005502.4(ABCA1):c.5094C>T (p.Tyr1698=)
NM_005502.4(ABCA1):c.5377G>A (p.Asp1793Asn)
NM_005502.4(ABCA1):c.5383-4_5383-3del rs77663187
NM_005502.4(ABCA1):c.5406C>T (p.Ile1802=) rs141980942
NM_005502.4(ABCA1):c.5637-4del rs143321497
NM_005502.4(ABCA1):c.5800G>A (p.Val1934Met)
NM_005502.4(ABCA1):c.613C>A (p.Gln205Lys)
NM_005502.4(ABCA1):c.721-10del
NM_005502.4(ABCA1):c.749C>T (p.Pro250Leu)
NM_005502.4(ABCA1):c.886T>A (p.Ser296Thr)

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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.