List of variants reported as pathogenic for recombinase activating gene 1 deficiency by ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen

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Total variants: 7

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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.1331C>T (p.Ala444Val)	rs199474685	0.00001
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter)	rs773929270	0.00001
NM_000448.3(RAG1):c.999T>A (p.Tyr333Ter)	rs902350422	0.00001
NM_000448.3(RAG1):c.2487_2488delinsTT (p.Arg829_Lys830delinsSerTer)	rs1850837839
NM_000448.3(RAG1):c.2877G>A (p.Trp959Ter)	rs1850847819
NM_000448.3(RAG1):c.775del (p.Ser259fs)	rs878853031

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