ClinVar Miner

Variants in gene IL12RB1 with conflicting interpretations

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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
421 42 0 7 29 0 0 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.

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 23 6
likely benign 0 0 23 0 6
benign 0 0 6 6 0

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg) rs11575934 0.25155
NM_005535.3(IL12RB1):c.467G>A (p.Arg156His) rs11575926 0.12190
NM_005535.3(IL12RB1):c.783+10C>T rs79972275 0.00537
NM_005535.3(IL12RB1):c.1573G>A (p.Ala525Thr) rs11575935 0.00494
NM_005535.3(IL12RB1):c.180C>T (p.Tyr60=) rs146102898 0.00243
NM_005535.3(IL12RB1):c.1098G>A (p.Thr366=) rs61734350 0.00234
NM_005535.3(IL12RB1):c.1914T>C (p.Pro638=) rs199686420 0.00129
NM_005535.3(IL12RB1):c.1172C>T (p.Pro391Leu) rs140254802 0.00123
NM_005535.3(IL12RB1):c.273C>T (p.Ala91=) rs138087003 0.00079
NM_005535.3(IL12RB1):c.1327+9C>A rs185883069 0.00049
NM_005535.3(IL12RB1):c.1737G>A (p.Pro579=) rs371461366 0.00042
NM_005535.3(IL12RB1):c.261C>T (p.Cys87=) rs373545812 0.00037
NM_005535.3(IL12RB1):c.930G>A (p.Ser310=) rs144647048 0.00032
NM_005535.3(IL12RB1):c.390C>T (p.Thr130=) rs201723337 0.00029
NM_005535.3(IL12RB1):c.1791+9G>A rs182660189 0.00026
NM_005535.3(IL12RB1):c.1048G>A (p.Gly350Arg) rs200811721 0.00021
NM_005535.3(IL12RB1):c.824C>T (p.Ala275Val) rs201831465 0.00020
NM_005535.3(IL12RB1):c.581-17G>A rs370354493 0.00019
NM_005535.3(IL12RB1):c.735G>A (p.Val245=) rs17878522 0.00017
NM_005535.3(IL12RB1):c.1764C>T (p.Ser588=) rs368969256 0.00014
NM_005535.3(IL12RB1):c.1190-13C>T rs371881148 0.00011
NM_005535.3(IL12RB1):c.1269C>T (p.His423=) rs367647802 0.00011
NM_005535.3(IL12RB1):c.309T>C (p.Ala103=) rs369830496 0.00009
NM_005535.3(IL12RB1):c.320T>C (p.Val107Ala) rs150285174 0.00009
NM_005535.3(IL12RB1):c.701-6T>C rs374699716 0.00007
NM_005535.3(IL12RB1):c.1179G>A (p.Pro393=) rs145095951 0.00004
NM_005535.3(IL12RB1):c.1173G>A (p.Pro391=) rs772239442 0.00002
NM_005535.3(IL12RB1):c.1746C>T (p.Pro582=) rs759839534 0.00002
NM_005535.3(IL12RB1):c.1818C>T (p.Asp606=) rs886054300 0.00002
NM_005535.3(IL12RB1):c.561A>T (p.Gly187=) rs200542111 0.00002
NM_005535.3(IL12RB1):c.1197C>T (p.Tyr399=) rs761731702 0.00001
NM_005535.3(IL12RB1):c.1132G>A (p.Gly378Arg) rs401502
NM_005535.3(IL12RB1):c.1461T>C (p.Asp487=) rs542734526
NM_005535.3(IL12RB1):c.1650C>T (p.Phe550=) rs2034193297
NM_005535.3(IL12RB1):c.599del (p.Leu200fs) rs1169002203
NM_005535.3(IL12RB1):c.732G>T (p.Ser244=) rs145487261

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