List of variants in gene RAG2 studied for Severe combined immunodeficiency disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000536.4(RAG2):c.14T>A (p.Met5Lys)	rs143415103	0.00019
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala)	rs121918575	0.00004
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys)	rs193922574	0.00003
NM_000536.4(RAG2):c.328A>C (p.Met110Leu)	rs193922575	0.00001
NM_000536.4(RAG2):c.*72T>C	rs886048269
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala)	rs148508754
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr)	rs909264507

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