List of variants in gene RAG1 reported as likely pathogenic for Combined immunodeficiency with skin granulomas

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys)	rs193922461	0.00009
NM_000448.3(RAG1):c.2917C>T (p.Arg973Cys)	rs1389614116	0.00001
NM_000448.3(RAG1):c.1003T>C (p.Cys335Arg)	rs2133294899
NM_000448.3(RAG1):c.1348C>T (p.Gln450Ter)	rs1850809690

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