List of variants in gene RAG1 reported as uncertain significance for recombinase activating gene 1 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000448.3(RAG1):c.1064T>C (p.Met355Thr)	rs151077440	0.00021
NM_000448.3(RAG1):c.1A>G (p.Met1Val)	rs200575481	0.00007
NM_000448.3(RAG1):c.2603C>T (p.Ala868Val)	rs193922462	0.00007
NM_000448.3(RAG1):c.37T>G (p.Ser13Ala)	rs760746448	0.00003
NM_000448.3(RAG1):c.527G>T (p.Cys176Phe)	rs149229197	0.00002
NM_000448.3(RAG1):c.1088G>A (p.Cys363Tyr)	rs1461508819	0.00001
NM_000448.3(RAG1):c.15C>G (p.Phe5Leu)	rs745600099	0.00001
NM_000448.3(RAG1):c.2291G>A (p.Arg764His)	rs768809293	0.00001
NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp)	rs768860215	0.00001
NM_000448.3(RAG1):c.29G>T (p.Gly10Val)	rs977780517	0.00001
NM_000448.3(RAG1):c.82T>C (p.Trp28Arg)	rs1274599533	0.00001
NM_000448.3(RAG1):c.17C>T (p.Pro6Leu)
NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln)	rs1064793249
NM_000448.3(RAG1):c.2904C>A (p.Asn968Lys)	rs193922463
NM_000448.3(RAG1):c.40G>A (p.Ala14Thr)	rs765396585
NM_000448.3(RAG1):c.76T>C (p.Ser26Pro)
NM_000448.3(RAG1):c.86A>G (p.Lys29Arg)

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