ClinVar Miner

List of variants studied for Combined immunodeficiency with skin granulomas by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys) rs193922461 0.00009
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575 0.00004
NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln) rs121918569 0.00001
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp) rs121918570 0.00001
NM_000448.2(RAG1):c.[1519C>T;2210G>A]
NM_000448.3(RAG1):c.1621del (p.Leu541fs) rs1590703275
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp) rs121918568
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn) rs121918574

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