ClinVar Miner

Variants with conflicting interpretations studied for Inflammatory bowel disease 28

Coded as:
Minimum review status of the submission for Inflammatory bowel disease 28: Collection method of the submission for Inflammatory bowel disease 28:
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
334 35 0 10 17 0 0 26

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
Inflammatory bowel disease 28 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 12 6
likely benign 0 0 12 0 9
benign 0 0 6 9 0

Condition to condition summary #

Total conditions: 1
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
Inflammatory bowel disease 28 334 35 0 10 17 0 0 26

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001558.4(IL10RA):c.181C>G (p.Leu61Val) rs4252250 0.01376
NM_001558.4(IL10RA):c.337G>A (p.Val113Ile) rs4252303 0.00655
NM_001558.4(IL10RA):c.1188G>A (p.Arg396=) rs35465632 0.00388
NM_001558.4(IL10RA):c.67+8T>C rs200992970 0.00290
NM_001558.4(IL10RA):c.696C>T (p.Thr232=) rs4252311 0.00274
NM_001558.4(IL10RA):c.144C>T (p.Ile48=) rs140466541 0.00178
NM_001558.4(IL10RA):c.698T>G (p.Val233Gly) rs138929400 0.00130
NM_001558.4(IL10RA):c.810+10G>A rs12290349 0.00092
NM_001558.4(IL10RA):c.1401G>A (p.Ser467=) rs150551465 0.00076
NM_001558.4(IL10RA):c.320G>A (p.Arg107Gln) rs145949718 0.00058
NM_001558.4(IL10RA):c.96G>A (p.Val32=) rs377525753 0.00024
NM_001558.4(IL10RA):c.781C>T (p.Arg261Trp) rs201396764 0.00023
NM_001558.4(IL10RA):c.1283C>T (p.Pro428Leu) rs752519410 0.00015
NM_001558.4(IL10RA):c.931T>C (p.Leu311=) rs148808529 0.00011
NM_001558.4(IL10RA):c.1452G>A (p.Glu484=) rs139576148 0.00009
NM_001558.4(IL10RA):c.1360G>A (p.Glu454Lys) rs79887053 0.00007
NM_001558.4(IL10RA):c.336C>T (p.Thr112=) rs192749274 0.00007
NM_001558.4(IL10RA):c.1539G>A (p.Thr513=) rs372503247 0.00004
NM_001558.4(IL10RA):c.67+15C>T rs886047708 0.00004
NM_001558.4(IL10RA):c.72A>C (p.Thr24=) rs560128585 0.00002
NM_001558.4(IL10RA):c.1323G>A (p.Val441=) rs746663189 0.00001
NM_001558.4(IL10RA):c.537G>A (p.Thr179=) rs1419560997 0.00001
NM_001558.4(IL10RA):c.716T>C (p.Phe239Ser) rs541386535 0.00001
NM_001558.4(IL10RA):c.67+11G>A rs376956484
NM_001558.4(IL10RA):c.67+11G>C rs376956484
NM_001558.4(IL10RA):c.67+13G>A rs886047707

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