ClinVar Miner

List of variants reported as likely pathogenic for Severe combined immunodeficiency disease

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
NM_000022.4(ADA):c.396dup (p.Val133fs) rs1555844617
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.872C>G (p.Ser291Trp) rs121908721
NM_000215.3(JAK3):c.1744C>T (p.Arg582Trp) rs193922361
NM_000215.3(JAK3):c.1767C>T (p.Gly589=) rs193922362
NM_000215.3(JAK3):c.2143G>A (p.Val715Ile) rs1057520020
NM_000215.3(JAK3):c.2683_2704del (p.Arg895fs) rs1555743321
NM_000215.3(JAK3):c.678_679del (p.Cys227fs) rs193922364
NM_000448.2(RAG1):c.2603C>T (p.Ala868Val) rs193922462
NM_000448.2(RAG1):c.322C>T (p.Arg108Ter) rs193922464
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.328A>C (p.Met110Leu) rs193922575
NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn)
NM_002185.5(IL7R):c.271_280dup (p.Ile94fs) rs193922640
NM_002185.5(IL7R):c.539A>C (p.His180Pro) rs193922642
NM_002185.5(IL7R):c.616_617delinsTA (p.Arg206Ter) rs193922643
NM_002185.5(IL7R):c.644G>T (p.Gly215Val) rs193922645

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.