ClinVar Miner

Variants with conflicting interpretations studied for ABCB4-related condition

Minimum review status of the submission for ABCB4-related condition: Collection method of the submission for ABCB4-related condition:
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
28 40 0 10 20 0 6 33

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
ABCB4-related condition pathogenic likely pathogenic uncertain significance benign
pathogenic 0 2 1 0
likely pathogenic 6 0 3 0
uncertain significance 0 2 0 1
likely benign 0 0 19 2

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
not provided 0 41 0 9 19 0 6 32
not specified 0 8 0 1 1 0 0 2

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000443.4(ABCB4):c.1893+6T>C rs8187798 0.00175
NM_000443.4(ABCB4):c.712C>G (p.Leu238Val) rs45596335 0.00155
NM_000443.4(ABCB4):c.2395-3T>C rs377462787 0.00029
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=) rs371394487 0.00027
NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=) rs8187808 0.00019
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_000443.4(ABCB4):c.80+5A>C rs186976987 0.00016
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met) rs776616540 0.00011
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=) rs368458295 0.00008
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000443.4(ABCB4):c.2340C>T (p.Gly780=) rs148865252 0.00006
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) rs561612231 0.00006
NM_000443.4(ABCB4):c.3411G>C (p.Arg1137=) rs771437431 0.00006
NM_000443.4(ABCB4):c.1356+10A>G rs374723850 0.00004
NM_000443.4(ABCB4):c.525G>A (p.Thr175=) rs558416191 0.00003
NM_000443.4(ABCB4):c.2211+1G>A rs794727183 0.00002
NM_000443.4(ABCB4):c.717G>A (p.Ser239=) rs770169131 0.00002
NM_000443.4(ABCB4):c.1151G>A (p.Gly384Glu) rs886894962 0.00001
NM_000443.4(ABCB4):c.1723C>T (p.Leu575=) rs748044865 0.00001
NM_000443.4(ABCB4):c.1821A>C (p.Val607=) rs546820262 0.00001
NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala) rs779885518 0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867 0.00001
NM_000443.4(ABCB4):c.240G>A (p.Glu80=) rs8187787 0.00001
NM_000443.4(ABCB4):c.3033T>C (p.Phe1011=) rs1297237099 0.00001
NM_000443.4(ABCB4):c.3486+1G>A rs764513998 0.00001
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs) rs753104429
NM_000443.4(ABCB4):c.102G>T (p.Thr34=) rs1277340029
NM_000443.4(ABCB4):c.1216C>T (p.Arg406Ter)
NM_000443.4(ABCB4):c.303G>A (p.Ser101=) rs886044650
NM_000443.4(ABCB4):c.3172G>A (p.Glu1058Lys)
NM_000443.4(ABCB4):c.3370dup (p.Cys1124fs)

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.