ClinVar Miner

List of variants in gene RAG2 studied for T-B- severe combined immunodeficiency

Included ClinVar conditions (13):
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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_000536.3(RAG2):c.[1403_1406delATCT;1A>G]
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.104G>T (p.Gly35Val)
NM_000536.4(RAG2):c.1092C>G (p.Asn364Lys)
NM_000536.4(RAG2):c.1095T>C (p.Ser365=) rs140519815
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly) rs121917897
NM_000536.4(RAG2):c.1185_1187TGA[2] (p.Asp397del) rs567942993
NM_000536.4(RAG2):c.1198G>C (p.Asp400His) rs140682926
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp) rs121917895
NM_000536.4(RAG2):c.1253C>T (p.Thr418Ile)
NM_000536.4(RAG2):c.1268G>A (p.Cys423Tyr) rs768567592
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575
NM_000536.4(RAG2):c.1391G>A (p.Arg464His) rs147748696
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe)
NM_000536.4(RAG2):c.1403A>G (p.His468Arg) rs751064709
NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser)
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) rs121918573
NM_000536.4(RAG2):c.14T>A (p.Met5Lys) rs143415103
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) rs145614809
NM_000536.4(RAG2):c.1516C>T (p.Arg506Cys)
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709
NM_000536.4(RAG2):c.242A>G (p.Lys81Arg)
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) rs36001797
NM_000536.4(RAG2):c.35T>C (p.Ile12Thr)
NM_000536.4(RAG2):c.368G>A (p.Arg123His) rs144012817
NM_000536.4(RAG2):c.541T>C (p.Cys181Arg) rs1564996998
NM_000536.4(RAG2):c.562G>C (p.Glu188Gln) rs1554947160
NM_000536.4(RAG2):c.595G>T (p.Glu199Ter) rs748727021
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp)
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) rs121917894
NM_000536.4(RAG2):c.68A>G (p.Asn23Ser)
NM_000536.4(RAG2):c.741G>A (p.Val247=) rs34092949
NM_000536.4(RAG2):c.809A>G (p.Glu270Gly)
NM_000536.4(RAG2):c.830A>G (p.Tyr277Cys)
NM_000536.4(RAG2):c.878A>G (p.Glu293Gly) rs16929093
NM_000536.4(RAG2):c.899G>A (p.Arg300His) rs138857320
NM_000536.4(RAG2):c.908A>G (p.Glu303Gly)
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp) rs141025671

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