ClinVar Miner

List of variants reported as likely pathogenic by Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer

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Total variants: 17
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HGVS dbSNP
NM_000536.4(RAG2):c.104G>T (p.Gly35Val)
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly) rs121917897
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp) rs121917895
NM_000536.4(RAG2):c.1320A>C (p.Lys440Asn)
NM_000536.4(RAG2):c.1329G>T (p.Met443Ile)
NM_000536.4(RAG2):c.1338C>G (p.Cys446Trp) rs1564995660
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.186C>A (p.Phe62Leu) rs1564997563
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000536.4(RAG2):c.218G>A (p.Arg73His) rs762407838
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn) rs121918574
NM_000536.4(RAG2):c.2T>C (p.Met1Thr) rs1554947410
NM_000536.4(RAG2):c.470G>T (p.Gly157Val) rs1564997121
NM_000536.4(RAG2):c.583T>G (p.Tyr195Asp) rs1479328926
NM_000536.4(RAG2):c.854T>G (p.Met285Arg) rs121917896

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