ClinVar Miner

List of variants reported as risk factor for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_016382.4(CD244):c.834+526A>G rs3766379 0.57260
NC_000016.10:g.10877045= rs3087456 0.47237
NM_005223.4(DNASE1):c.731G>A (p.Arg244Gln) rs1053874 0.44356
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) rs231775 0.39951
NM_001144962.2(NFKBIL1):c.-13+590T>A rs2071592 0.37279
NM_033004.4(NLRP1):c.464T>A (p.Leu155His) rs12150220 0.33261
NM_001394477.1(FCGR2B):c.695T>C (p.Ile232Thr) rs1050501 0.19240
NC_000006.12:g.31575254G>A rs1800629 0.14163
NM_001370466.1(NOD2):c.2717+158C>T rs5743289 0.10180
NM_003059.3(SLC22A4):c.393+6607C>T rs3792876 0.06888
NM_015967.8(PTPN22):c.1858= (p.Trp620=) rs2476601 0.06839
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_001039569.2(AP1S3):c.11T>G (p.Phe4Cys) rs116107386 0.00898
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp) rs138292988 0.00725
NM_032782.5(HAVCR2):c.302C>T (p.Thr101Ile) rs147827860 0.00543
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met) rs35960726 0.00270
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys) rs184868814 0.00159
NC_000001.11:g.63322420G>T rs41285370 0.00102
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser) rs1800578 0.00057
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr) rs755855285 0.00014
NM_000204.5(CFI):c.949C>T (p.Arg317Trp) rs121964917 0.00006
NM_000204.5(CFI):c.1420C>T (p.Arg474Ter) rs121964913 0.00003
NM_001127198.5(TMC6):c.744C>A (p.Tyr248Ter) rs121908329 0.00003
NM_000186.4(CFH):c.3514G>T (p.Glu1172Ter) rs121913060 0.00001
NM_000204.5(CFI):c.1555G>A (p.Asp519Asn) rs121964918 0.00001
NM_000361.3(THBD):c.158A>G (p.Asp53Gly) rs121918667 0.00001
NM_000629.3(IFNAR1):c.1156G>T (p.Glu386Ter) rs201609461 0.00001
NM_001127198.5(TMC6):c.280C>T (p.Arg94Ter) rs121908327 0.00001
NM_172351.3(CD46):c.104G>A (p.Cys35Tyr) rs121909591 0.00001
NM_172351.3(CD46):c.175C>T (p.Arg59Ter) rs121909590 0.00001
NM_172351.3(CD46):c.718T>C (p.Ser240Pro) rs121909589 0.00001
NM_172351.3(CD46):c.98-1G>C rs1441937053 0.00001
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.2562C>G (p.Tyr854Ter) rs121909586
NM_000064.4(C3):c.3281C>T (p.Ala1094Val) rs121909584
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn) rs121909585
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter) rs121913057
NM_000186.4(CFH):c.3566T>G (p.Leu1189Arg) rs121913055
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000186.4(CFH):c.3592G>T (p.Glu1198Ter) rs121913063
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly) rs121913051
NM_000186.4(CFH):c.3677_*4del (p.Pro1226_Ter1232delinsXaa) rs796052136
NM_000186.4(CFH):c.83_86del (p.Arg28fs) rs796052137
NM_000204.5(CFI):c.1571A>T (p.Asp524Val) rs121964914
NM_000204.5(CFI):c.1637G>A (p.Trp546Ter) rs121964915
NM_000629.3(IFNAR1):c.1440+331_*239del
NM_000629.3(IFNAR1):c.674-1G>A rs1601861199
NM_000629.3(IFNAR1):c.674-2A>G rs1601861196
NM_000629.3(IFNAR1):c.783G>A (p.Trp261Ter) rs756541321
NM_000629.3(IFNAR1):c.788+1636_1144-1368del
NM_000629.3(IFNAR1):c.922C>T (p.Gln308Ter) rs2123261739
NM_001014286.3(SUPT20H):c.73A>T (p.Lys25Ter) rs1566328963
NM_001127198.5(TMC6):c.1726G>T (p.Glu576Ter) rs121908328
NM_001127198.5(TMC6):c.892-2A>T rs769471844
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001710.6(CFB):c.858C>G (p.Phe286Leu) rs117905900
NM_001710.6(CFB):c.967A>G (p.Lys323Glu) rs121909748
NM_004001.4(FCGR2B):c.-386G>C rs3219018
NM_005223.4(DNASE1):c.13A>T (p.Lys5Ter) rs121912990
NM_006084.5(IRF9):c.577+1G>T rs1594389703
NM_006084.5(IRF9):c.991G>A (p.Asp331Asn) rs1594390415
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_138296.3(PTCRA):c.429del (p.Pro144fs)
NM_138296.3(PTCRA):c.446G>A (p.Trp149Ter)
NM_138348.6(OTULIN):c.283G>T (p.Glu95Ter)
NM_138348.6(OTULIN):c.517del (p.Gly174fs) rs886037886
NM_138348.6(OTULIN):c.731A>G (p.Tyr244Cys) rs886037887
NM_138348.6(OTULIN):c.737A>T (p.Asp246Val)
NM_138348.6(OTULIN):c.802del (p.Asp268fs)
NM_172351.3(CD46):c.800_801del (p.Thr267fs) rs1558056827
NM_172351.3(CD46):c.811_816del (p.Asp271_Ser272del) rs1255421232

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