ClinVar Miner

List of variants studied for immune system disorder by 3billion

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 338
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_006929.5(SKIC2):c.1816C>T (p.Arg606Cys) rs78026291 0.00049
NM_006929.5(SKIC2):c.3252G>A (p.Met1084Ile) rs58092713 0.00048
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser) rs145351589 0.00046
NM_015122.3(FCHO1):c.2401G>A (p.Val801Ile) rs139967668 0.00044
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_018344.6(SLC29A3):c.707C>T (p.Thr236Met) rs147552838 0.00029
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_001364905.1(LRBA):c.3499A>G (p.Thr1167Ala) rs146297781 0.00026
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_199242.3(UNC13D):c.1076G>A (p.Arg359His) rs146611729 0.00019
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NM_000433.4(NCF2):c.*97A>C rs367946786 0.00015
NM_006929.5(SKIC2):c.3622C>T (p.Arg1208Cys) rs144418335 0.00014
NM_021922.3(FANCE):c.-100C>T rs374493565 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met) rs116040763 0.00011
NM_003200.5(TCF3):c.1555A>G (p.Lys519Glu) rs199682849 0.00011
NM_002435.3(MPI):c.748G>A (p.Gly250Ser) rs748090636 0.00010
NM_183235.3(RAB27A):c.275C>T (p.Ala92Val) rs137960099 0.00010
NM_000215.4(JAK3):c.3207+73G>A rs536358097 0.00009
NM_006118.4(HAX1):c.*47A>G rs183456651 0.00009
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_018344.6(SLC29A3):c.1309G>A (p.Gly437Arg) rs121912584 0.00006
NM_032415.7(CARD11):c.2703+4A>G rs201256077 0.00005
NM_032444.4(SLX4):c.*98A>G rs551538592 0.00005
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_001291303.3(FAT4):c.4228G>A (p.Val1410Met) rs781736766 0.00004
NM_006767.4(LZTR1):c.946G>A (p.Val316Met) rs370315661 0.00004
NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter) rs144718007 0.00004
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys) rs567155861 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001289125.3(IFNAR2):c.343G>A (p.Gly115Arg) rs150825310 0.00003
NM_001291303.3(FAT4):c.11039C>T (p.Thr3680Met) rs367877267 0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr) rs369326210 0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_006846.4(SPINK5):c.1048C>T (p.Arg350Ter) rs373463881 0.00003
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000051.4(ATM):c.67C>T (p.Arg23Ter) rs746235533 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000204.5(CFI):c.248C>G (p.Pro83Arg) rs1433059338 0.00002
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter) rs1313207845 0.00002
NM_006846.4(SPINK5):c.1302+4A>T rs201269335 0.00002
NM_006929.5(SKIC2):c.2483G>A (p.Arg828His) rs774644201 0.00002
NM_014140.4(SMARCAL1):c.2534T>A (p.Leu845Gln) rs372298863 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_133459.4(CCBE1):c.552T>C (p.Thr184=) rs771507895 0.00002
NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met) rs753703762 0.00002
NM_203447.4(DOCK8):c.5620G>A (p.Glu1874Lys) rs779199376 0.00002
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062 0.00001
NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys) rs137852609 0.00001
NM_000448.3(RAG1):c.1088G>A (p.Cys363Tyr) rs1461508819 0.00001
NM_000448.3(RAG1):c.1229G>A (p.Arg410Gln) rs199474684 0.00001
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter) rs773929270 0.00001
NM_000536.4(RAG2):c.1338C>G (p.Cys446Trp) rs1564995660 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_001012339.3(DNAJC21):c.410T>C (p.Phe137Ser) rs752188838 0.00001
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp) rs28933973 0.00001
NM_001291303.3(FAT4):c.2824A>G (p.Ile942Val) rs368138514 0.00001
NM_001291303.3(FAT4):c.3637G>T (p.Asp1213Tyr) rs762595829 0.00001
NM_002185.5(IL7R):c.83-2A>T rs886060531 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002880.4(RAF1):c.709G>A (p.Ala237Thr) rs587777588 0.00001
NM_003200.5(TCF3):c.1636C>T (p.Arg546Trp) rs747799051 0.00001
NM_003721.4(RFXANK):c.438+5G>A rs1196984337 0.00001
NM_005045.4(RELN):c.6310C>T (p.Arg2104Cys) rs758883183 0.00001
NM_006282.5(STK4):c.733C>T (p.Arg245Ter) rs748660310 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys) rs782269909 0.00001
NM_018344.6(SLC29A3):c.300+1G>A rs587780463 0.00001
NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter) rs746408350 0.00001
NM_020964.3(EPG5):c.1936A>G (p.Met646Val) rs745736928 0.00001
NM_032444.4(SLX4):c.4618G>A (p.Glu1540Lys) rs769950582 0.00001
NM_032492.4(JAGN1):c.56A>G (p.His19Arg) rs748123071 0.00001
NM_138387.4(G6PC3):c.210del (p.Phe71fs) rs769441127 0.00001
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln) rs113994137 0.00001
NM_172351.3(CD46):c.104G>A (p.Cys35Tyr) rs121909591 0.00001
NM_199242.3(UNC13D):c.1612C>T (p.Gln538Ter) rs1426054272 0.00001
NR_003051.4(RMRP):n.232C>T rs762145032 0.00001
NR_003051.4(RMRP):n.42G>A rs1156413585 0.00001
NM_000043.6(FAS):c.802dup (p.Gln268fs)
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.4(ATM):c.2528_2529del (p.Asn843fs)
NM_000051.4(ATM):c.3024_3025del (p.Asn1010fs) rs2135553856
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.3695_3713del (p.Ser1232fs)
NM_000051.4(ATM):c.387del (p.Asp130fs) rs745642834
NM_000051.4(ATM):c.5178-1G>A rs1555105579
NM_000051.4(ATM):c.5521_5522del (p.Val1841fs) rs1555107293
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs) rs1591718522
NM_000051.4(ATM):c.6027C>G (p.Tyr2009Ter) rs1555113567
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.6899G>C (p.Trp2300Ser) rs1555119899
NM_000051.4(ATM):c.72+2T>C rs1591446206
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7629+1G>A rs1565532703
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.4(ATM):c.8464_8467del (p.Asp2822fs) rs2137027657
NM_000051.4(ATM):c.8687A>C (p.Gln2896Pro) rs2089494486
NM_000061.3(BTK):c.372G>T (p.Trp124Cys)
NM_000061.3(BTK):c.839+1G>C rs1569292649
NM_000061.3(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000061.3(BTK):c.867T>A (p.Ser289Arg) rs1926588297
NM_000074.3(CD40LG):c.158_161del
NM_000074.3(CD40LG):c.634del (p.His212fs)
NM_000081.4(LYST):c.6712C>T (p.Arg2238Ter)
NM_000081.4(LYST):c.7460+3_7460+6del
NM_000135.4(FANCA):c.2150dup (p.Met717fs)
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter) rs2039260856
NM_000135.4(FANCA):c.2852+1del
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.4010+2T>C rs2062067746
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000138.5(FBN1):c.523C>T (p.Pro175Ser) rs891185586
NM_000186.4(CFH):c.3449T>G (p.Ile1150Arg) rs2149118066
NM_000186.4(CFH):c.672G>T (p.Lys224Asn) rs1408473510
NM_000204.5(CFI):c.803C>T (p.Ser268Leu) rs2126213962
NM_000215.4(JAK3):c.678_679del (p.Cys227fs) rs193922364
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000271.5(NPC1):c.2597T>C (p.Met866Thr) rs1181604094
NM_000271.5(NPC1):c.2847G>A (p.Trp949Ter) rs2145370569
NM_000271.5(NPC1):c.352_353del (p.Gln119fs) rs759075595
NM_000271.5(NPC1):c.3591+2dup rs2145342749
NM_000271.5(NPC1):c.852del (p.Phe284fs) rs762124334
NM_000355.4(TCN2):c.623_624del (p.Arg208fs)
NM_000377.3(WAS):c.1057CCA[1] (p.Pro354del) rs1569494034
NM_000377.3(WAS):c.315dup (p.Val106fs)
NM_000377.3(WAS):c.385G>C (p.Ala129Pro)
NM_000377.3(WAS):c.671A>G (p.Asp224Gly)
NM_000377.3(WAS):c.778-1G>A rs2147265861
NM_000383.4(AIRE):c.136A>T (p.Thr46Ser) rs2146375707
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000397.4(CYBB):c.1060C>T (p.His354Tyr)
NM_000448.3(RAG1):c.1003T>C (p.Cys335Arg) rs2133294899
NM_000448.3(RAG1):c.256A>T (p.Lys86Ter)
NM_000448.3(RAG1):c.540G>A (p.Trp180Ter)
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs) rs281860676
NM_000543.5(SMPD1):c.1548T>G (p.His516Gln) rs1590747902
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser) rs2134024060
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del) rs120074118
NM_000543.5(SMPD1):c.581dup (p.Ala195fs) rs748165078
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797
NM_000593.6(TAP1):c.884del (p.Leu295fs)
NM_000671.4(ADH5):c.966del (p.Gly321_Trp322insTer) rs748162259
NM_001012339.3(DNAJC21):c.1004C>A (p.Ser335Ter)
NM_001013838.3(CARMIL2):c.2313+1G>A rs765817045
NM_001013838.3(CARMIL2):c.473T>G (p.Phe158Cys)
NM_001018113.3(FANCB):c.195dup (p.Thr66fs) rs1602006627
NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)
NM_001085049.3(MRAS):c.68G>T (p.Gly23Val) rs1576359216
NM_001099857.5(IKBKG):c.41_56dup (p.Pro20fs) rs2148368738
NM_001142864.4(PIEZO1):c.4058+1G>C
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del) rs1432360280
NM_001167.4(XIAP):c.778C>T (p.Pro260Ser) rs2148090201
NM_001183.6(ATP6AP1):c.294C>A (p.Ser98Arg) rs2148223097
NM_001183.6(ATP6AP1):c.385T>C (p.Ser129Pro)
NM_001243133.2(NLRP3):c.1054G>A (p.Ala352Thr) rs180177503
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001354930.2(RIPK1):c.528_532del (p.Arg177fs) rs2113607375
NM_001364905.1(LRBA):c.1319del (p.Pro440fs)
NM_001364905.1(LRBA):c.2767-2A>G rs1350061017
NM_001364905.1(LRBA):c.3952T>G (p.Leu1318Val) rs2126914920
NM_001364905.1(LRBA):c.5011dup (p.Ser1671fs)
NM_001364905.1(LRBA):c.534del (p.Asp179fs) rs2149508258
NM_001364905.1(LRBA):c.5645+1G>C
NM_001364905.1(LRBA):c.8107_8110del (p.Ser2703fs)
NM_001367916.1(MAGT1):c.468dup (p.Gln157fs)
NM_001367916.1(MAGT1):c.49G>A (p.Ala17Thr)
NM_001367916.1(MAGT1):c.628A>G (p.Met210Val)
NM_001370466.1(NOD2):c.1411G>A (p.Glu471Lys)
NM_001379200.1(TBX1):c.1004C>T (p.Ala335Val)
NM_001379200.1(TBX1):c.1342C>A (p.Pro448Thr)
NM_001379200.1(TBX1):c.170_229del (p.Pro57_Pro76del)
NM_001493.3(GDI1):c.193T>A (p.Ser65Thr) rs1557198307
NM_001734.5(C1S):c.1729_1730del (p.Asp577fs)
NM_001754.5(RUNX1):c.154A>G (p.Met52Val)
NM_001814.6(CTSC):c.526A>T (p.Lys176Ter)
NM_001972.4(ELANE):c.284C>G (p.Thr95Ser) rs752760119
NM_002351.5(SH2D1A):c.158C>T (p.Thr53Ile)
NM_002393.5(MDM4):c.1147T>C (p.Ser383Pro) rs2102456822
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.5(NRAS):c.449A>G (p.Gln150Arg) rs2101738598
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn) rs121918460
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.217A>C (p.Thr73Pro) rs397507513
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002872.5(RAC2):c.97A>G (p.Ile33Val) rs2145831322
NM_002880.4(RAF1):c.1871C>G (p.Ser624Cys) rs1057524239
NM_002880.4(RAF1):c.478C>T (p.Leu160Phe)
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_003177.7(SYK):c.1417G>C (p.Glu473Gln) rs2118893859
NM_003183.6(ADAM17):c.1344+1G>A
NM_003200.5(TCF3):c.607G>A (p.Ala203Thr) rs138005323
NM_003200.5(TCF3):c.760G>A (p.Gly254Ser)
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter) rs104893624
NM_003839.4(TNFRSF11A):c.54C>A (p.Cys18Ter)
NM_004119.3(FLT3):c.2533A>G (p.Arg845Gly)
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004523.4(KIF11):c.1513_1516del (p.Glu505fs)
NM_004523.4(KIF11):c.157C>T (p.Arg53Ter) rs2135900558
NM_004523.4(KIF11):c.2304_2305del (p.His768fs) rs2135923352
NM_004523.4(KIF11):c.2507_2510del (p.Ser835_Ser836insTer) rs2135923477
NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs)
NM_004523.4(KIF11):c.2782C>T (p.Gln928Ter) rs1589608594
NM_004523.4(KIF11):c.422A>T (p.His141Leu) rs1844462612
NM_004523.4(KIF11):c.473del (p.Val158fs) rs2135902435
NM_004629.2(FANCG):c.552dup (p.Ser185fs) rs1412207017
NM_004944.4(DNASE1L3):c.307G>C (p.Ala103Pro)
NM_004944.4(DNASE1L3):c.563G>C (p.Gly188Ala) rs1313460433
NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) rs104894366
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) rs121913535
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_004985.5(KRAS):c.76A>C (p.Asn26His) rs794727277
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) rs121913459
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_005251.3(FOXC2):c.1221del (p.Gln407fs) rs2144020781
NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter) rs104894516
NM_005356.5(LCK):c.734T>A (p.Leu245Gln)
NM_005565.5(LCP2):c.569C>G (p.Pro190Arg) rs779018199
NM_005565.5(LCP2):c.610C>T (p.Arg204Trp) rs368344059
NM_005633.4(SOS1):c.1289A>G (p.Asp430Gly) rs2124537699
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.2117G>A (p.Arg706Lys) rs2124517554
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_005633.4(SOS1):c.805A>G (p.Met269Val)
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.4(SOS1):c.925G>A (p.Asp309Asn) rs397517180
NM_006060.6(IKZF1):c.1275dup (p.Leu426fs)
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter) rs1572018284
NM_006397.3(RNASEH2A):c.671T>A (p.Val224Glu) rs1321788478
NM_006397.3(RNASEH2A):c.717del (p.Thr240fs) rs1403542725
NM_006767.4(LZTR1):c.2501_2502del (p.Ala834fs) rs2147971083
NM_006785.4(MALT1):c.1950del (p.Pro651fs) rs2144491203
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.4(SPINK5):c.2471_2474del (p.Lys824fs)
NM_006912.6(RIT1):c.116T>C (p.Met39Thr) rs2102590945
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.229G>T (p.Ala77Ser) rs869025191
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.578T>C (p.Met193Thr)
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_007315.4(STAT1):c.536_538del (p.Asn179del) rs2125074976
NM_007315.4(STAT1):c.776T>C (p.Leu259Pro) rs2125069735
NM_007315.4(STAT1):c.820C>G (p.Arg274Gly) rs387906758
NM_007315.4(STAT1):c.820C>T (p.Arg274Trp) rs387906758
NM_012250.6(RRAS2):c.67G>A (p.Gly23Ser)
NM_012452.3(TNFRSF13B):c.842_857del (p.Ile281fs) rs2087491615
NM_014639.4(SKIC3):c.231G>A (p.Trp77Ter) rs755681347
NM_014639.4(SKIC3):c.2842G>T (p.Glu948Ter) rs2112308481
NM_018062.4(FANCL):c.1_22dup (p.Leu8fs)
NM_020070.4(IGLL1):c.258del (p.Gln88fs) rs532338576
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter) rs769399833
NM_020661.4(AICDA):c.70C>T (p.Arg24Trp) rs104894324
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022168.4(IFIH1):c.317C>A (p.Ser106Ter) rs764380346
NM_024782.3(NHEJ1):c.134G>A (p.Trp45Ter)
NM_024782.3(NHEJ1):c.530-2A>T rs1064793763
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032790.4(ORAI1):c.113_121delAGCCCCCGG (p.Glu38_Pro40del) rs781971569
NM_033629.6(TREX1):c.541_544dup (p.Ile182fs)
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_080911.3(UNG):c.649dup (p.Thr217fs) rs1302020618
NM_138387.4(G6PC3):c.144C>A (p.Tyr48Ter)
NM_138576.4(BCL11B):c.1887_1893del (p.Gly630fs) rs2139755925
NM_138576.4(BCL11B):c.1996C>T (p.Pro666Ser)
NM_138576.4(BCL11B):c.2108C>A (p.Pro703Gln)
NM_138576.4(BCL11B):c.473C>T (p.Ala158Val)
NM_139027.6(ADAMTS13):c.3242G>A (p.Trp1081Ter)
NM_139027.6(ADAMTS13):c.85G>T (p.Gly29Ter)
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg) rs869312888
NM_139276.3(STAT3):c.1909G>A (p.Val637Met) rs113994139
NM_139276.3(STAT3):c.551-1G>C rs1598423756
NM_144687.4(NLRP12):c.770del (p.Gln257fs) rs2122677940
NM_152564.5(VPS13B):c.1651G>A (p.Gly551Ser) rs1346704740
NM_152564.5(VPS13B):c.2905C>T (p.Gln969Ter) rs2133295344
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_152564.5(VPS13B):c.8626G>T (p.Glu2876Ter) rs747644844
NM_172351.3(CD46):c.350_351dup (p.Glu118fs) rs2102541856
NM_181078.3(IL21R):c.946del (p.Val316fs) rs2141318549
NM_181523.3(PIK3R1):c.1425+1G>T rs587777709
NM_199242.3(UNC13D):c.1193C>T (p.Ser398Leu) rs747756030
NM_199242.3(UNC13D):c.1828_1839del (p.Arg610_Gln613del) rs796065024
NM_199242.3(UNC13D):c.3049G>A (p.Glu1017Lys)
NM_199242.3(UNC13D):c.751C>T (p.Gln251Ter) rs2143893153
NM_199242.3(UNC13D):c.902A>G (p.His301Arg) rs2143891961
NM_203447.4(DOCK8):c.4223C>G (p.Ala1408Gly) rs2131649115
NR_003051.3(RMRP):n.5_6insTACTCTGTGAAGCTGAGGACGTGGTTC rs1554651349

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