List of variants in gene RAG2 reported as likely pathogenic for recombinase activating gene 2 deficiency

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys)	rs193922574	0.00003
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)	rs36001797	0.00003
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys)	rs193922573	0.00001
NM_000536.4(RAG2):c.1338C>G (p.Cys446Trp)	rs1564995660	0.00001
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)	rs193922572
NM_000536.4(RAG2):c.1332C>G (p.Ile444Met)	rs1564995662
NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg)	rs1564995627
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe)	rs1590713653
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr)	rs909264507
NM_000536.4(RAG2):c.3G>A (p.Met1Ile)
NM_000536.4(RAG2):c.955G>T (p.Gly319Ter)	rs879541124

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