List of variants in gene RAG1 reported as pathogenic for Severe combined immunodeficiency disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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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.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.1681C>T (p.Arg561Cys)	rs104894285	0.00001
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp)	rs121918572	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.2917C>T (p.Arg973Cys)	rs1389614116	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)

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