ClinVar Miner

List of variants reported as benign for recombinase activating gene 1 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.746A>G (p.His249Arg) rs3740955 0.48211
NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg) rs2227973 0.12928
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu) rs4151030 0.02153
NM_000448.3(RAG1):c.303G>A (p.Ala101=) rs4151025 0.01561
NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys) rs4151033 0.01395
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys) rs4151031 0.01070
NM_000448.3(RAG1):c.251A>G (p.His84Arg) rs150199231 0.00550
NM_000448.3(RAG1):c.577G>A (p.Glu193Lys) rs34841221 0.00130
NM_000448.3(RAG1):c.1573C>T (p.Pro525Ser) rs4151032 0.00017

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