ClinVar Miner

Variants with conflicting interpretations studied for X-linked severe combined immunodeficiency

Coded as:
Minimum review status of the submission for X-linked severe combined immunodeficiency: Collection method of the submission for X-linked severe combined immunodeficiency:
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
342 28 0 28 9 0 4 41

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
X-linked severe combined immunodeficiency pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 7 1 0 0
likely pathogenic 7 0 3 0 0
uncertain significance 1 3 0 8 1
likely benign 0 0 8 0 21
benign 0 0 1 21 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
X-linked severe combined immunodeficiency 342 28 0 28 9 0 4 41

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000206.3(IL2RG):c.325G>A (p.Glu109Lys) rs17875899 0.00059
NM_000206.3(IL2RG):c.282G>A (p.Ser94=) rs142807857 0.00039
NM_000206.3(IL2RG):c.78A>T (p.Thr26=) rs147424359 0.00023
NM_000206.3(IL2RG):c.1002G>A (p.Glu334=) rs376679881 0.00011
NM_000206.3(IL2RG):c.912C>T (p.His304=) rs145282692 0.00010
NM_000206.3(IL2RG):c.1042G>A (p.Ala348Thr) rs140216601 0.00009
NM_000206.3(IL2RG):c.86C>T (p.Thr29Met) rs375921454 0.00009
NM_000206.3(IL2RG):c.759G>T (p.Glu253Asp) rs200239526 0.00007
NM_000206.3(IL2RG):c.754A>G (p.Lys252Glu) rs765748584 0.00006
NM_000206.3(IL2RG):c.332T>C (p.Ile111Thr) rs778229878 0.00005
NM_000206.3(IL2RG):c.786C>T (p.Ala262=) rs374370835 0.00005
NM_000206.3(IL2RG):c.1105A>G (p.Thr369Ala) rs374270413 0.00004
NM_000206.3(IL2RG):c.281C>T (p.Ser94Leu) rs775704953 0.00003
NM_000206.3(IL2RG):c.396C>T (p.Leu132=) rs201840981 0.00003
NM_000206.3(IL2RG):c.708T>C (p.His236=) rs750844357 0.00003
NM_000206.3(IL2RG):c.1061A>G (p.His354Arg) rs771221019 0.00002
NM_000206.3(IL2RG):c.1076C>T (p.Ala359Val) rs767383120 0.00002
NM_000206.3(IL2RG):c.201C>T (p.Val67=) rs756100347 0.00002
NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu) rs776710796 0.00002
NM_000206.3(IL2RG):c.455-8A>G rs781649645 0.00002
NM_000206.3(IL2RG):c.494T>G (p.Leu165Arg) rs758693125 0.00002
NM_000206.3(IL2RG):c.75G>A (p.Thr25=) rs754951792 0.00002
NM_000206.3(IL2RG):c.87G>A (p.Thr29=) rs779772745 0.00002
NM_000206.3(IL2RG):c.953C>T (p.Ala318Val) rs370007902 0.00002
NM_000206.3(IL2RG):c.963G>A (p.Leu321=) rs181901993 0.00002
NM_000206.3(IL2RG):c.311A>T (p.His104Leu) rs770804846 0.00001
NM_000206.3(IL2RG):c.406C>T (p.Arg136Trp) rs758080286 0.00001
NM_000206.3(IL2RG):c.798T>C (p.Ser266=) rs764914063 0.00001
NM_000206.3(IL2RG):c.924+9G>T rs1198550634 0.00001
NM_000206.3(IL2RG):c.977G>A (p.Ser326Asn) rs779190567 0.00001
NM_000206.3(IL2RG):c.216C>A (p.Cys72Ter) rs2147750927
NM_000206.3(IL2RG):c.270-1G>T rs193922346
NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys) rs193922347
NM_000206.3(IL2RG):c.318A>G (p.Leu106=) rs1389116834
NM_000206.3(IL2RG):c.43C>T (p.Gln15Ter) rs1057517747
NM_000206.3(IL2RG):c.452T>C (p.Leu151Pro) rs137852511
NM_000206.3(IL2RG):c.455T>C (p.Val152Ala) rs193922348
NM_000206.3(IL2RG):c.694G>A (p.Gly232Arg) rs1569479909
NM_000206.3(IL2RG):c.758-2A>G rs2147747509
NM_000206.3(IL2RG):c.924G>A (p.Ser308=) rs2092255386
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347

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.