ClinVar Miner

List of variants studied for Histiocytic medullary reticulosis by OMIM

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Total variants: 19
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HGVS dbSNP
NM_000448.2(RAG1):c.1186C>T (p.Arg396Cys) rs104894289
NM_000448.2(RAG1):c.1187G>A (p.Arg396His) rs104894291
NM_000448.2(RAG1):c.1286A>G (p.Asp429Gly) rs104894292
NM_000448.2(RAG1):c.1681C>T (p.Arg561Cys) rs104894285
NM_000448.2(RAG1):c.1682G>A (p.Arg561His) rs104894284
NM_000448.2(RAG1):c.2210G>A (p.Arg737His) rs104894286
NM_000448.2(RAG1):c.2735A>G (p.Tyr912Cys) rs104894290
NM_000448.2(RAG1):c.983G>A (p.Cys328Tyr) rs121918571
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.283G>A (p.Gly95Arg) rs36001797
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) rs121917894
NM_000536.4(RAG2):c.854T>G (p.Met285Arg) rs121917896
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp) rs121908159
NM_001033855.3(DCLRE1C):c.2T>C (p.Met1Thr) rs121908158
RAG1, 1-BP DEL, 631T
RAG1, 1-BP DEL, 887A
RAG1, 13-BP DEL, NT1723
RAG1, 2-BP DEL, 368AA

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