ClinVar Miner

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

Included ClinVar conditions (1):

Recombinase activating gene 1 deficiency

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000448.3(RAG1):c.2751G>A (p.Gln917=)	rs150721661	0.00334
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg)	rs76897604	0.00164
NM_000448.3(RAG1):c.486T>A (p.Asp162Glu)	rs753042511	0.00004

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