ClinVar Miner

List of variants in gene RAG1 reported as uncertain significance for T-B- severe combined immunodeficiency

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_000448.2(RAG1):c.1012A>C (p.Thr338Pro)
NM_000448.2(RAG1):c.101G>A (p.Arg34Gln) rs377307948
NM_000448.2(RAG1):c.1060C>A (p.Leu354Met) rs753165042
NM_000448.2(RAG1):c.1064T>C (p.Met355Thr)
NM_000448.2(RAG1):c.1154T>C (p.Ile385Thr)
NM_000448.2(RAG1):c.1202C>T (p.Ser401Leu) rs1385203770
NM_000448.2(RAG1):c.1232T>C (p.Leu411Pro) rs1554944877
NM_000448.2(RAG1):c.1256A>G (p.Lys419Arg)
NM_000448.2(RAG1):c.1361T>A (p.Leu454Gln) rs199474677
NM_000448.2(RAG1):c.1468A>G (p.Thr490Ala)
NM_000448.2(RAG1):c.1559T>C (p.Phe520Ser)
NM_000448.2(RAG1):c.1742T>C (p.Met581Thr) rs1317842420
NM_000448.2(RAG1):c.1761T>G (p.Asp587Glu) rs1554944973
NM_000448.2(RAG1):c.191C>T (p.Ala64Val) rs1564988004
NM_000448.2(RAG1):c.2060G>A (p.Ser687Asn)
NM_000448.2(RAG1):c.2140C>T (p.Leu714Phe)
NM_000448.2(RAG1):c.2204C>T (p.Ala735Val)
NM_000448.2(RAG1):c.2258A>T (p.His753Leu) rs199474687
NM_000448.2(RAG1):c.232C>G (p.Gln78Glu)
NM_000448.2(RAG1):c.248C>T (p.Ala83Val)
NM_000448.2(RAG1):c.2500G>T (p.Ala834Ser) rs1215266586
NM_000448.2(RAG1):c.2516A>T (p.His839Leu)
NM_000448.2(RAG1):c.2527A>G (p.Lys843Glu)
NM_000448.2(RAG1):c.2603C>T (p.Ala868Val) rs193922462
NM_000448.2(RAG1):c.2626G>A (p.Glu876Lys) rs145772007
NM_000448.2(RAG1):c.2774C>T (p.Thr925Met)
NM_000448.2(RAG1):c.283G>A (p.Glu95Lys)
NM_000448.2(RAG1):c.2923C>T (p.Arg975Trp) rs121918570
NM_000448.2(RAG1):c.2981A>G (p.His994Arg) rs775412266
NM_000448.2(RAG1):c.335G>A (p.Arg112His) rs749223640
NM_000448.2(RAG1):c.394C>T (p.Pro132Ser)
NM_000448.2(RAG1):c.432G>T (p.Lys144Asn)
NM_000448.2(RAG1):c.517A>T (p.Thr173Ser)
NM_000448.2(RAG1):c.527G>T (p.Cys176Phe) rs149229197
NM_000448.2(RAG1):c.549G>A (p.Met183Ile) rs750394886
NM_000448.2(RAG1):c.830A>G (p.Lys277Arg) rs1027087402
NM_000448.2(RAG1):c.851C>T (p.Pro284Leu) rs1554944775
NM_000448.2(RAG1):c.94C>G (p.Leu32Val)
NM_000448.2(RAG1):c.997T>C (p.Tyr333His)

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.