ClinVar Miner

List of variants in gene RAG1 reported as likely pathogenic by GeneDx

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.527G>T (p.Cys176Phe) rs149229197 0.00002
NM_000448.3(RAG1):c.1178G>T (p.Gly393Val) rs1554944856 0.00001
NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp) rs768860215 0.00001
NM_000448.3(RAG1):c.2981A>G (p.His994Arg) rs775412266 0.00001
NM_000448.3(RAG1):c.1361T>A (p.Leu454Gln) rs199474677
NM_000448.3(RAG1):c.2147G>A (p.Arg716Gln) rs1064793248
NM_000448.3(RAG1):c.2564A>G (p.Asn855Ser) rs199474690
NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln) rs1064793249

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