List of variants reported as pathogenic for immune system disorder by Undiagnosed Diseases Network, NIH

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_000250.2(MPO):c.2031-2A>C	rs35897051	0.00472
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)	rs119468010	0.00173
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	rs28934897	0.00156
NR_003051.4(RMRP):n.72A>G	rs199476103	0.00156
NM_001395891.1(CLASP1):c.196-567G>A	rs559979281	0.00038
NM_001114753.3(ENG):c.816+6T>C	rs759191907	0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NC_000012.12:g.43775405_43788500del
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys)	rs374526072
NM_001013838.3(CARMIL2):c.1784del (p.Lys595fs)	rs774594582
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs)	rs782178147
NM_001395891.1(CLASP1):c.196-570C>T	rs750325275
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	rs61816761
NM_004944.4(DNASE1L3):c.290_291del (p.Thr97fs)	rs751206379
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter)	rs1034395178
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)	rs1591495767
NM_012481.5(IKZF3):c.229A>T (p.Met77Leu)
NM_015932.6(POMP):c.334_335del (p.Ile112fs)	rs1555257073
NM_016123.4(IRAK4):c.364C>T (p.Gln122Ter)	rs1416395914
NM_020964.3(EPG5):c.5943-9_5943-5del	rs773330060
NM_032638.5(GATA2):c.839del (p.Pro280fs)	rs1576748366
NR_023317.1(RNU7-1):n.28C>T	rs180837208
NR_023343.3(RNU4ATAC):n.40C>T	rs139495292
NR_023343.3(RNU4ATAC):n.50G>A	rs181195449

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