ClinVar Miner

List of variants in gene RAG2 reported as likely pathogenic for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575 0.00004
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys) rs764485070 0.00004
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) rs193922574 0.00003
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) rs36001797 0.00003
NM_000536.4(RAG2):c.218G>A (p.Arg73His) rs762407838 0.00002
NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter) rs1434362838 0.00001
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) rs193922573 0.00001
NM_000536.4(RAG2):c.1321C>A (p.Pro441Thr) rs1336343565 0.00001
NM_000536.4(RAG2):c.1338C>G (p.Cys446Trp) rs1564995660 0.00001
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) rs121918573 0.00001
NM_000536.4(RAG2):c.328A>C (p.Met110Leu) rs193922575 0.00001
NM_000536.4(RAG2):c.464T>C (p.Leu155Pro) rs1064793250 0.00001
NM_000536.4(RAG2):c.1038T>A (p.Tyr346Ter)
NM_000536.4(RAG2):c.103G>A (p.Gly35Ser)
NM_000536.4(RAG2):c.104G>T (p.Gly35Val) rs148508754
NM_000536.4(RAG2):c.110C>T (p.Pro37Leu) rs1851104914
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly) rs121917897
NM_000536.4(RAG2):c.122G>A (p.Cys41Tyr)
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp) rs121917895
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000536.4(RAG2):c.1274_1280dup (p.Asn428fs)
NM_000536.4(RAG2):c.1295C>T (p.Pro432Leu) rs753677011
NM_000536.4(RAG2):c.130G>T (p.Gly44Ter) rs1440633758
NM_000536.4(RAG2):c.1320A>C (p.Lys440Asn) rs754413772
NM_000536.4(RAG2):c.1328T>C (p.Met443Thr) rs1406618487
NM_000536.4(RAG2):c.1329G>T (p.Met443Ile) rs773710101
NM_000536.4(RAG2):c.1332C>G (p.Ile444Met) rs1564995662
NM_000536.4(RAG2):c.133_146del (p.Val45fs)
NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg) rs1564995627
NM_000536.4(RAG2):c.1366G>A (p.Ala456Thr) rs1564995611
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.1403_1404dup (p.Leu469fs) rs2133311139
NM_000536.4(RAG2):c.186C>A (p.Phe62Leu) rs1564997563
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000536.4(RAG2):c.217C>G (p.Arg73Gly)
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn) rs121918574
NM_000536.4(RAG2):c.284G>A (p.Gly95Glu)
NM_000536.4(RAG2):c.2T>C (p.Met1Thr) rs1554947410
NM_000536.4(RAG2):c.302A>G (p.Asn101Ser)
NM_000536.4(RAG2):c.302del (p.Asn101fs) rs2133315462
NM_000536.4(RAG2):c.303T>A (p.Asn101Lys)
NM_000536.4(RAG2):c.356del (p.Lys119fs)
NM_000536.4(RAG2):c.385_389del (p.Leu129fs) rs1164927451
NM_000536.4(RAG2):c.3G>A (p.Met1Ile)
NM_000536.4(RAG2):c.419A>G (p.His140Arg) rs1335036396
NM_000536.4(RAG2):c.41T>A (p.Leu14Ter)
NM_000536.4(RAG2):c.43del (p.Ile15fs)
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.470G>T (p.Gly157Val) rs1564997121
NM_000536.4(RAG2):c.476G>A (p.Arg159His) rs2133314621
NM_000536.4(RAG2):c.479C>A (p.Ser160Ter)
NM_000536.4(RAG2):c.501A>C (p.Arg167Ser) rs1159686210
NM_000536.4(RAG2):c.535dup (p.Leu179fs)
NM_000536.4(RAG2):c.548dup (p.Leu184fs)
NM_000536.4(RAG2):c.583T>G (p.Tyr195Asp) rs1479328926
NM_000536.4(RAG2):c.608G>A (p.Gly203Glu) rs1851081720
NM_000536.4(RAG2):c.653T>A (p.Ile218Asn)
NM_000536.4(RAG2):c.683del (p.Ile228fs)
NM_000536.4(RAG2):c.686G>C (p.Arg229Pro) rs121917894
NM_000536.4(RAG2):c.686G>T (p.Arg229Leu) rs121917894
NM_000536.4(RAG2):c.724dup (p.Leu242fs) rs2133313784
NM_000536.4(RAG2):c.749C>G (p.Thr250Arg)
NM_000536.4(RAG2):c.831T>A (p.Tyr277Ter)
NM_000536.4(RAG2):c.854T>G (p.Met285Arg) rs121917896
NM_000536.4(RAG2):c.913C>G (p.Pro305Ala) rs370666759
NM_000536.4(RAG2):c.914C>T (p.Pro305Leu)
NM_000536.4(RAG2):c.924_930dup (p.Ile311fs)
NM_000536.4(RAG2):c.951G>A (p.Trp317Ter)
NM_000536.4(RAG2):c.951del (p.Trp317fs)
NM_000536.4(RAG2):c.954del (p.Phe318fs) rs2133312873
NM_000536.4(RAG2):c.955G>T (p.Gly319Ter) rs879541124
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.