ClinVar Miner

List of variants in gene RAG1 reported as pathogenic for T-B- severe combined immunodeficiency

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000448.2(RAG1):c.1180C>T (p.Arg394Trp)
NM_000448.2(RAG1):c.1187G>A (p.Arg396His) rs104894291
NM_000448.2(RAG1):c.1210C>T (p.Arg404Trp)
NM_000448.2(RAG1):c.1331C>T (p.Ala444Val) rs199474685
NM_000448.2(RAG1):c.1421G>A (p.Arg474His) rs199474686
NM_000448.2(RAG1):c.1566G>T (p.Trp522Cys) rs193922461
NM_000448.2(RAG1):c.1681C>T (p.Arg561Cys) rs104894285
NM_000448.2(RAG1):c.2348C>G (p.Ser783Ter)
NM_000448.2(RAG1):c.256_257del (p.Lys86fs) rs772962160
NM_000448.2(RAG1):c.2974A>G (p.Lys992Glu) rs539590514
NM_000448.2(RAG1):c.322C>T (p.Arg108Ter) rs193922464
NM_000448.2(RAG1):c.424C>T (p.Arg142Ter) rs773929270
NM_000448.2(RAG1):c.983G>A (p.Cys328Tyr) rs121918571
NM_000448.2(RAG1):c.987del (p.Ser330fs) rs1564988767
NM_000448.2(RAG1):c.994C>T (p.Arg332Ter)
NM_000448.2(RAG1):c.[1229G>A;1863delG]
NM_000448.2(RAG1):c.[1681C>T;1815G>C]

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