List of variants reported as uncertain significance for combined immunodeficiency due to partial RAG1 deficiency

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000448.3(RAG1):c.1064T>C (p.Met355Thr)	rs151077440	0.00021
NM_000448.3(RAG1):c.1864G>A (p.Ala622Thr)	rs148380512	0.00019
NM_000448.3(RAG1):c.2753G>A (p.Arg918His)	rs368073575	0.00009
NM_000448.3(RAG1):c.101G>A (p.Arg34Gln)	rs377307948	0.00008
NM_000448.3(RAG1):c.1048G>A (p.Val350Ile)	rs200758244	0.00006
NM_000448.3(RAG1):c.1207A>T (p.Thr403Ser)	rs202189218	0.00004
NM_000448.3(RAG1):c.1981_1983del (p.Met661del)	rs774103837	0.00002
NM_000448.3(RAG1):c.1480A>G (p.Ile494Val)	rs777216600	0.00001
NM_000448.3(RAG1):c.206C>G (p.Ala69Gly)	rs887750833	0.00001
NM_000448.3(RAG1):c.549G>A (p.Met183Ile)	rs750394886	0.00001
NM_000448.3(RAG1):c.997T>C (p.Tyr333His)	rs1041695603	0.00001
NM_000448.3(RAG1):c.1264G>T (p.Ala422Ser)	rs568838996
NM_000448.3(RAG1):c.2945C>A (p.Ser982Tyr)	rs1245287257
NM_000448.3(RAG1):c.2988G>T (p.Leu996Phe)	rs1388654836
NM_000448.3(RAG1):c.432G>T (p.Lys144Asn)	rs144430517

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