ClinVar Miner

List of variants studied for combined immunodeficiency, X-linked

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000206.3(IL2RG):c.857C>T (p.Thr286Met) rs767758983 0.00014
NM_000206.3(IL2RG):c.1061A>G (p.His354Arg) rs771221019 0.00002
NM_000206.3(IL2RG):c.201C>T (p.Val67=) rs756100347 0.00002
NM_000206.3(IL2RG):c.202G>A (p.Glu68Lys) rs1057520644
NM_000206.3(IL2RG):c.269+1G>T rs2092262300
NM_000206.3(IL2RG):c.318A>G (p.Leu106=) rs1389116834
NM_000206.3(IL2RG):c.374A>G (p.Tyr125Cys) rs2092261313
NM_000206.3(IL2RG):c.484C>G (p.Leu162Val) rs2147749821
NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys) rs111033618
NM_000206.3(IL2RG):c.670C>T (p.Arg224Trp) rs869320658
NM_000206.3(IL2RG):c.676C>T (p.Arg226Cys) rs869320659
NM_000206.3(IL2RG):c.74del (p.Thr25fs) rs2147751859
NM_000206.3(IL2RG):c.75_77del (p.Thr26del) rs758742212
NM_000206.3(IL2RG):c.878T>A (p.Leu293Gln) rs137852510
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.