ClinVar Miner

Variants with conflicting interpretations studied for Progressive familial intrahepatic cholestasis type 2

Coded as:
Minimum review status of the submission for Progressive familial intrahepatic cholestasis type 2: Collection method of the submission for Progressive familial intrahepatic cholestasis type 2:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
303 60 0 13 8 0 16 36

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.

All conditions
Progressive familial intrahepatic cholestasis type 2 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 8 4 0 0
likely pathogenic 7 0 6 1 0
uncertain significance 4 12 0 8 0
likely benign 0 0 7 0 3
benign 0 0 0 3 0

Condition to condition summary #

Total conditions: 2
Download table as spreadsheet
Condition 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
Progressive familial intrahepatic cholestasis type 2 321 53 0 8 7 0 10 25
Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis type 2 0 21 0 8 1 0 8 16

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793 0.00401
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664 0.00251
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys) rs111482608 0.00107
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu) rs11568361 0.00052
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=) rs144848376 0.00050
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=) rs201087979 0.00038
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109 0.00019
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00009
NM_003742.4(ABCB11):c.2012-8T>G rs769910565 0.00005
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_003742.4(ABCB11):c.810G>A (p.Glu270=) rs369671177 0.00004
NM_003742.4(ABCB11):c.1160G>A (p.Arg387His) rs372784355 0.00003
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr) rs886043807 0.00003
NM_003742.4(ABCB11):c.3411+10G>A rs188996270 0.00003
NM_003742.4(ABCB11):c.3676C>T (p.Arg1226Cys) rs772241929 0.00002
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp) rs766285158 0.00002
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr) rs752043324 0.00001
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp) rs763526610 0.00001
NM_003742.4(ABCB11):c.1568C>G (p.Ala523Gly) rs769652427 0.00001
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro) rs867525294 0.00001
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg) rs763782349 0.00001
NM_003742.4(ABCB11):c.251G>A (p.Gly84Asp) rs762571776 0.00001
NM_003742.4(ABCB11):c.2617G>A (p.Gly873Ser) rs559849564 0.00001
NM_003742.4(ABCB11):c.936G>T (p.Gln312His) rs770497192 0.00001
NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln) rs1463057954
NM_003742.4(ABCB11):c.150+3A>C rs387906354
NM_003742.4(ABCB11):c.1789dup (p.Val597fs) rs2545382762
NM_003742.4(ABCB11):c.2011+1G>C rs376632574
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
NM_003742.4(ABCB11):c.257T>A (p.Met86Lys) rs1258387740
NM_003742.4(ABCB11):c.3164T>C (p.Leu1055Pro) rs747153406
NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly) rs761200259
NM_003742.4(ABCB11):c.611+2dup rs2545453446
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu) rs1382100120
NM_003742.4(ABCB11):c.721C>T (p.Leu241=) rs2545450310
NM_003742.4(ABCB11):c.76+29T>G

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.