ClinVar Miner

List of variants reported as likely pathogenic for Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.1981_1983del (p.Met661del) rs774103837 0.00002
NM_000448.3(RAG1):c.1088G>A (p.Cys363Tyr) rs1461508819 0.00001
NM_000448.3(RAG1):c.2917C>T (p.Arg973Cys) rs1389614116 0.00001
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp) rs121918570 0.00001
NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter) rs1434362838 0.00001
NM_000448.3(RAG1):c.1232T>C (p.Leu411Pro) rs1554944877
NM_000448.3(RAG1):c.1361T>A (p.Leu454Gln) rs199474677
NM_000448.3(RAG1):c.1519C>T (p.Arg507Trp) rs104894298
NM_000448.3(RAG1):c.1856C>T (p.Pro619Leu)
NM_000448.3(RAG1):c.2006A>G (p.Glu669Gly) rs199474689
NM_000448.3(RAG1):c.2096G>A (p.Arg699Gln)
NM_000448.3(RAG1):c.2125G>A (p.Gly709Ser)
NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys) rs749027430
NM_000448.3(RAG1):c.2345T>A (p.Val782Asp)
NM_000448.3(RAG1):c.2411C>T (p.Ala804Val) rs2133297485
NM_000448.3(RAG1):c.2780T>C (p.Phe927Ser)
NM_000448.3(RAG1):c.2918G>C (p.Arg973Pro) rs1384545687
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp) rs121918568
NM_000536.4(RAG2):c.103G>A (p.Gly35Ser)
NM_000536.4(RAG2):c.122G>A (p.Cys41Tyr)
NM_000536.4(RAG2):c.1328T>C (p.Met443Thr) rs1406618487
NM_000536.4(RAG2):c.1375A>C (p.Met459Leu) rs1204766339
NM_000536.4(RAG2):c.1375A>G (p.Met459Val)
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe) rs1590713653
NM_000536.4(RAG2):c.217C>G (p.Arg73Gly)
NM_000536.4(RAG2):c.284G>A (p.Gly95Glu)
NM_000536.4(RAG2):c.302A>G (p.Asn101Ser)
NM_000536.4(RAG2):c.303T>A (p.Asn101Lys)
NM_000536.4(RAG2):c.419A>G (p.His140Arg) rs1335036396
NM_000536.4(RAG2):c.469G>A (p.Gly157Arg) rs756676209
NM_000536.4(RAG2):c.470G>C (p.Gly157Ala) rs1564997121
NM_000536.4(RAG2):c.476G>A (p.Arg159His) rs2133314621
NM_000536.4(RAG2):c.501A>C (p.Arg167Ser) rs1159686210
NM_000536.4(RAG2):c.608G>A (p.Gly203Glu) rs1851081720
NM_000536.4(RAG2):c.653T>A (p.Ile218Asn)
NM_000536.4(RAG2):c.686G>T (p.Arg229Leu) rs121917894
NM_000536.4(RAG2):c.913C>G (p.Pro305Ala) rs370666759
NM_000536.4(RAG2):c.914C>T (p.Pro305Leu)
NM_000536.4(RAG2):c.954del (p.Phe318fs) rs2133312873
NM_000536.4(RAG2):c.95G>T (p.Gly32Val)

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.