ClinVar Miner

List of variants studied for Immunodeficiency 104 by GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited

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Total variants: 4
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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_002185.5(IL7R):c.419G>A (p.Arg140Gln) rs200373233 0.00019
NM_000536.4(RAG2):c.218G>A (p.Arg73His) rs762407838 0.00002

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