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

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000536.4(RAG2):c.35T>C (p.Ile12Thr)	rs146584017	0.00062
NM_000536.4(RAG2):c.14T>A (p.Met5Lys)	rs143415103	0.00019
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp)	rs141025671	0.00012
NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser)	rs757913323	0.00001
NM_000536.4(RAG2):c.25A>G (p.Ser9Gly)	rs1851108332	0.00001
NM_000536.4(RAG2):c.328A>C (p.Met110Leu)	rs193922575	0.00001
NM_000536.4(RAG2):c.53G>T (p.Gly18Val)	rs1851106893	0.00001
NM_000536.4(RAG2):c.68A>G (p.Asn23Ser)	rs751073669	0.00001
NM_000536.4(RAG2):c.13A>T (p.Met5Leu)	rs1851109238
NM_000536.4(RAG2):c.19A>G (p.Thr7Ala)	rs1851108814
NM_000536.4(RAG2):c.1A>G (p.Met1Val)	rs1564997814
NM_000536.4(RAG2):c.2T>C (p.Met1Thr)	rs1554947410
NM_000536.4(RAG2):c.302A>G (p.Asn101Ser)
NM_000536.4(RAG2):c.48G>T (p.Gln16His)
NM_000536.4(RAG2):c.501A>C (p.Arg167Ser)	rs1159686210
NM_000536.4(RAG2):c.74A>G (p.Asp25Gly)	rs1851105950
NM_000536.4(RAG2):c.77G>C (p.Gly26Ala)	rs1851105838
NM_000536.4(RAG2):c.95G>T (p.Gly32Val)

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