ClinVar Miner

List of variants in gene RAG1 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.256_257del (p.Lys86fs) rs772962160 0.00005
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln) rs150739647 0.00004
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys) rs104894289 0.00002
NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys) rs28933392 0.00002
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val) rs199474685 0.00001
NM_000448.3(RAG1):c.1421G>A (p.Arg474His) rs199474686 0.00001
NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln) rs121918569 0.00001
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter) rs757797994 0.00001
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp) rs121918570 0.00001
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp) rs764981110
NM_000448.3(RAG1):c.1297G>A (p.Val433Met) rs199474679
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser) rs199474681
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)
NM_000448.3(RAG1):c.775del (p.Ser259fs) rs878853031

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