List of variants reported as pathogenic for Combined immunodeficiency with skin granulomas by Baylor Genetics

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Total variants: 15

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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.475C>T (p.Arg159Cys)	rs764485070	0.00004
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)	rs36001797	0.00003
NM_000448.3(RAG1):c.1682G>A (p.Arg561His)	rs104894284	0.00002
NM_000536.4(RAG2):c.442C>T (p.Arg148Ter)	rs1315729938	0.00001
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp)	rs765298019	0.00001
NM_000536.4(RAG2):c.859del (p.Cys287fs)	rs754975137	0.00001
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala)	rs148508754
NM_000536.4(RAG2):c.104G>T (p.Gly35Val)	rs148508754
NM_000536.4(RAG2):c.1142_1143del (p.Asp380_Ser381insTer)
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)	rs193922572
NM_000536.4(RAG2):c.1403_1406del (p.His468fs)	rs786205616
NM_000536.4(RAG2):c.171del (p.Lys58fs)
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln)	rs121917894
NM_000536.4(RAG2):c.829dup (p.Tyr277fs)	rs1851074524

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