List of variants reported as pathogenic for immune system disorder by Laboratory of Pediatric Immunoinfectivology, Tor Vergata University

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000022.4(ADA):c.367del (p.Asp123fs)	rs758073965
NM_000022.4(ADA):c.[455T>C;478+6T>C]
NM_000206.3(IL2RG):c.455T>G (p.Val152Gly)	rs193922348
NM_000215.3(JAK3):c.[1796T>G;2125T>A]
NM_000448.2(RAG1):c.[1213A>G;1871G>A]
NM_000448.2(RAG1):c.[1229G>A;1863delG]
NM_000448.2(RAG1):c.[1681C>T;1815G>C]
NM_000448.2(RAG1):c.[1871G>A;2182T>C]
NM_000448.2(RAG1):c.[2119G>C;519delT]
NM_000448.3(RAG1):c.987del (p.Ser330fs)	rs1564988767
NM_000536.3(RAG2):c.[1403_1406delATCT;1A>G]
NM_001167.4(XIAP):c.566T>C (p.Leu189Pro)	rs1569477871
NM_002185.5(IL7R):c.[134A>C;537+1G>A]

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