List of variants reported as pathogenic for Omenn syndrome

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Total variants: 38

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HGVS	dbSNP	gnomAD frequency
NM_000448.3(RAG1):c.256_257del (p.Lys86fs)	rs772962160	0.00005
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)	rs36001797	0.00003
NM_001033855.3(DCLRE1C):c.109+1G>T	rs143144732	0.00003
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)	rs121908156	0.00003
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys)	rs104894289	0.00002
NM_000448.3(RAG1):c.1682G>A (p.Arg561His)	rs104894284	0.00002
NM_000448.3(RAG1):c.2210G>A (p.Arg737His)	rs104894286	0.00002
NM_000448.3(RAG1):c.1187G>A (p.Arg396His)	rs104894291	0.00001
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln)	rs750055861	0.00001
NM_000448.3(RAG1):c.1421G>A (p.Arg474His)	rs199474686	0.00001
NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys)	rs104894285	0.00001
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter)	rs757797994	0.00001
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter)	rs773929270	0.00001
NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr)	rs121918571	0.00001
NM_000536.4(RAG2):c.442C>T (p.Arg148Ter)	rs1315729938	0.00001
NM_000536.4(RAG2):c.595G>T (p.Glu199Ter)	rs748727021	0.00001
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp)	rs765298019	0.00001
NM_001033855.3(DCLRE1C):c.2T>C (p.Met1Thr)	rs121908158	0.00001
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr)	rs1317003987	0.00001
NM_000448.3(RAG1):c.1286A>G (p.Asp429Gly)	rs104894292
NM_000448.3(RAG1):c.1612_1624del (p.Ile538fs)	rs749256215
NM_000448.3(RAG1):c.2735A>G (p.Tyr912Cys)	rs104894290
NM_000448.3(RAG1):c.519del (p.Glu174fs)	rs1241698978
NM_000448.3(RAG1):c.775del (p.Ser259fs)	rs878853031
NM_000536.4(RAG2):c.104G>T (p.Gly35Val)	rs148508754
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly)	rs121917897
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp)	rs121917895
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)	rs193922572
NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg)	rs1564995627
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln)	rs121917894
NM_000536.4(RAG2):c.829dup (p.Tyr277fs)	rs1851074524
NM_000536.4(RAG2):c.854T>G (p.Met285Arg)	rs121917896
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp)	rs121908159
NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs)	rs786200884
NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter)	rs1839957089
NM_001033855.3(DCLRE1C):c.362+1G>T	rs1564446526
NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter)	rs752655158
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter)	rs121908157

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