ClinVar Miner

List of variants reported as uncertain significance for Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.1520G>A (p.Arg507Gln) rs143969029 0.00001
NM_000448.3(RAG1):c.2161C>G (p.Leu721Val) rs1590703677
NM_000448.3(RAG1):c.2882G>T (p.Ser961Ile)
NM_000448.3(RAG1):c.865A>G (p.Lys289Glu)
NM_000536.4(RAG2):c.1185TGA[2] (p.Asp397del) rs567942993
NM_000536.4(RAG2):c.487C>T (p.Pro163Ser)
NM_024715.4(TXNDC15):c.703C>T (p.Arg235Trp)

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