List of variants in gene RAG1 reported as likely pathogenic for Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

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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.1088G>A (p.Cys363Tyr)	rs1461508819	0.00001
NM_000448.3(RAG1):c.1232T>C (p.Leu411Pro)	rs1554944877
NM_000448.3(RAG1):c.1361T>A (p.Leu454Gln)	rs199474677
NM_000448.3(RAG1):c.1519C>T (p.Arg507Trp)	rs104894298
NM_000448.3(RAG1):c.1856C>T (p.Pro619Leu)
NM_000448.3(RAG1):c.2006A>G (p.Glu669Gly)	rs199474689
NM_000448.3(RAG1):c.2096G>A (p.Arg699Gln)
NM_000448.3(RAG1):c.2125G>A (p.Gly709Ser)
NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys)	rs749027430
NM_000448.3(RAG1):c.2345T>A (p.Val782Asp)
NM_000448.3(RAG1):c.2411C>T (p.Ala804Val)	rs2133297485
NM_000448.3(RAG1):c.2780T>C (p.Phe927Ser)
NM_000448.3(RAG1):c.2918G>C (p.Arg973Pro)	rs1384545687
NM_000448.3(RAG1):c.2954A>G (p.Tyr985Cys)
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp)	rs121918568

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