ClinVar Miner

Variants in gene IL12RB1 with conflicting interpretations

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
188 24 0 5 14 0 0 19

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.

uncertain significance likely benign benign
uncertain significance 0 11 3
likely benign 11 0 5
benign 3 5 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_005535.3(IL12RB1):c.1048G>A (p.Gly350Arg) rs200811721
NM_005535.3(IL12RB1):c.1098G>A (p.Thr366=) rs61734350
NM_005535.3(IL12RB1):c.1132G>A (p.Gly378Arg)
NM_005535.3(IL12RB1):c.1172C>T (p.Pro391Leu) rs140254802
NM_005535.3(IL12RB1):c.1179G>A (p.Pro393=) rs145095951
NM_005535.3(IL12RB1):c.1269C>T (p.His423=) rs367647802
NM_005535.3(IL12RB1):c.1327+9C>A rs185883069
NM_005535.3(IL12RB1):c.1737G>A (p.Pro579=)
NM_005535.3(IL12RB1):c.180C>T (p.Tyr60=) rs146102898
NM_005535.3(IL12RB1):c.1914T>C (p.Pro638=) rs199686420
NM_005535.3(IL12RB1):c.261C>T (p.Cys87=) rs373545812
NM_005535.3(IL12RB1):c.320T>C (p.Val107Ala) rs150285174
NM_005535.3(IL12RB1):c.390C>T (p.Thr130=) rs201723337
NM_005535.3(IL12RB1):c.467G>A (p.Arg156His) rs11575926
NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg) rs11575934
NM_005535.3(IL12RB1):c.701-6T>C rs374699716
NM_005535.3(IL12RB1):c.732G>T (p.Ser244=) rs145487261
NM_005535.3(IL12RB1):c.783+10C>T rs79972275
NM_005535.3(IL12RB1):c.930G>A (p.Ser310=) rs144647048

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