List of variants reported as pathogenic for recombinase activating gene 2 deficiency by ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala)	rs121918575	0.00004
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp)	rs765298019	0.00001
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala)	rs148508754
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly)	rs121917897
NM_000536.4(RAG2):c.130G>T (p.Gly44Ter)	rs1440633758
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln)	rs121917894
NM_000536.4(RAG2):c.829dup (p.Tyr277fs)	rs1851074524

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