ClinVar Miner

List of variants reported as uncertain significance for immune system disorder by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_006610.4(MASP2):c.467G>A (p.Cys156Tyr) rs41307788 0.00558
NM_016123.4(IRAK4):c.346G>A (p.Glu116Lys) rs62642475 0.00067
NM_001735.3(C5):c.64A>G (p.Thr22Ala) rs564964646 0.00063
NM_020937.4(FANCM):c.2996C>T (p.Pro999Leu) rs148304968 0.00044
NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys) rs145825553 0.00036
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_000383.4(AIRE):c.1235C>T (p.Ser412Leu) rs368331265 0.00011
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) rs146609069 0.00011
NM_199242.3(UNC13D):c.1152G>C (p.Gln384His) rs570422323 0.00008
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr) rs201212806 0.00006
NM_001364905.1(LRBA):c.2195G>A (p.Ser732Asn) rs866092082 0.00005
NM_000383.4(AIRE):c.947G>A (p.Arg316Gln) rs202027254 0.00004
NM_203447.4(DOCK8):c.4087C>T (p.Arg1363Trp) rs142093178 0.00004
NM_000059.4(BRCA2):c.6929C>A (p.Thr2310Asn) rs276174886 0.00003
NM_001113378.2(FANCI):c.1537A>G (p.Met513Val) rs148780626 0.00003
NM_001183.6(ATP6AP1):c.1031G>A (p.Arg344His) rs781936333 0.00003
NM_001370466.1(NOD2):c.2974C>T (p.Arg992Ter) rs104895491 0.00003
NM_172351.3(CD46):c.643G>A (p.Val215Met) rs535353049 0.00003
NM_000059.4(BRCA2):c.3323A>C (p.Lys1108Thr) rs765232270 0.00002
NM_001033855.3(DCLRE1C):c.1333C>T (p.Arg445Cys) rs774273800 0.00002
NM_001364905.1(LRBA):c.8528G>A (p.Arg2843Gln) rs200336029 0.00002
NM_001370466.1(NOD2):c.133G>A (p.Glu45Lys) rs760069458 0.00002
NM_003200.5(TCF3):c.1049C>T (p.Ser350Leu) rs963433488 0.00002
NM_032977.4(CASP10):c.325C>T (p.Arg109Ter) rs201601111 0.00002
NM_052872.4(IL17F):c.392G>A (p.Arg131Gln) rs764026426 0.00002
NM_183235.3(RAB27A):c.340A>G (p.Ile114Val) rs1218762595 0.00002
NM_000051.4(ATM):c.3820C>T (p.Gln1274Ter) rs1453429915 0.00001
NM_000051.4(ATM):c.4049C>T (p.Thr1350Met) rs587781785 0.00001
NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu) rs1324075885 0.00001
NM_000243.3(MEFV):c.2048C>T (p.Ser683Leu) rs534682649 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_001085049.3(MRAS):c.13G>A (p.Ala5Thr) rs767548259 0.00001
NM_001113378.2(FANCI):c.2687G>C (p.Gly896Ala) rs751233975 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001382567.1(STIM1):c.22G>A (p.Ala8Thr) rs751520286 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter) rs149721361 0.00001
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591 0.00001
NM_018389.5(SLC35C1):c.841G>A (p.Gly281Ser) rs1410328784 0.00001
NM_181078.3(IL21R):c.974C>T (p.Pro325Leu) rs569320047 0.00001
NM_198053.3(CD247):c.359C>T (p.Ala120Val) rs745871212 0.00001
NM_198525.3(KIF7):c.733G>A (p.Val245Ile) rs1212811357 0.00001
NM_199242.3(UNC13D):c.305G>A (p.Arg102Gln) rs778208597 0.00001
NM_000022.4(ADA):c.613_615del (p.Val205del)
NM_000051.4(ATM):c.1802+1del
NM_000051.4(ATM):c.4612G>T (p.Val1538Leu) rs1034235291
NM_000051.4(ATM):c.6391G>C (p.Ala2131Pro)
NM_000051.4(ATM):c.6541G>A (p.Glu2181Lys) rs2136242185
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.8418+4A>C
NM_000061.3(BTK):c.1900T>C (p.Trp634Arg)
NM_000061.3(BTK):c.449G>A (p.Gly150Glu)
NM_000064.4(C3):c.145G>T (p.Ala49Ser)
NM_000064.4(C3):c.3635C>T (p.Thr1212Ile)
NM_000066.4(C8B):c.1381G>T (p.Ala461Ser)
NM_000074.3(CD40LG):c.346+5G>T
NM_000081.4(LYST):c.5290G>A (p.Gly1764Ser)
NM_000081.4(LYST):c.7556A>T (p.Tyr2519Phe)
NM_000121.4(EPOR):c.1362C>G (p.Tyr454Ter)
NM_000135.4(FANCA):c.2284C>A (p.Leu762Ile)
NM_000135.4(FANCA):c.2729T>C (p.Leu910Pro)
NM_000135.4(FANCA):c.2786A>C (p.Tyr929Ser) rs2038969615
NM_000135.4(FANCA):c.3251G>C (p.Arg1084Pro)
NM_000135.4(FANCA):c.3342_3343insCCT (p.Ser1114_Glu1115insPro)
NM_000135.4(FANCA):c.377C>T (p.Thr126Met) rs139160837
NM_000135.4(FANCA):c.3789_3794dup (p.Ser1264_Leu1265insPheSer)
NM_000135.4(FANCA):c.3792_3794del (p.Leu1265del) rs2151716800
NM_000135.4(FANCA):c.4167+5G>A
NM_000204.5(CFI):c.1369T>C (p.Ser457Pro)
NM_000204.5(CFI):c.1683A>C (p.Lys561Asn)
NM_000211.5(ITGB2):c.1348C>T (p.Arg450Trp)
NM_000211.5(ITGB2):c.1888G>T (p.Glu630Ter)
NM_000215.4(JAK3):c.2280G>T (p.Met760Ile)
NM_000234.3(LIG1):c.97C>A (p.Pro33Thr)
NM_000243.3(MEFV):c.638T>C (p.Leu213Pro)
NM_000246.4(CIITA):c.673G>A (p.Gly225Arg)
NM_000265.7(NCF1):c.682+5C>T
NM_000271.5(NPC1):c.1103T>C (p.Leu368Pro)
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys) rs1555633697
NM_000271.5(NPC1):c.3508C>T (p.His1170Tyr)
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
NM_000271.5(NPC1):c.749AGCCCC[3] (p.Pro253_Pro254insGlnPro)
NM_000271.5(NPC1):c.91T>C (p.Cys31Arg)
NM_000361.3(THBD):c.667A>C (p.Met223Leu)
NM_000377.3(WAS):c.134C>T (p.Thr45Met) rs132630273
NM_000377.3(WAS):c.680G>A (p.Arg227His)
NM_000383.4(AIRE):c.116C>T (p.Pro39Leu)
NM_000383.4(AIRE):c.1435G>T (p.Val479Leu)
NM_000383.4(AIRE):c.172G>A (p.Ala58Thr)
NM_000448.3(RAG1):c.1194TCT[1] (p.Leu400del)
NM_000448.3(RAG1):c.2879C>T (p.Ala960Val)
NM_000518.5(HBB):c.421_422delinsAT (p.Ala141Ile)
NM_000536.4(RAG2):c.410G>A (p.Arg137Lys)
NM_000543.5(SMPD1):c.1487-4G>A
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.338G>T (p.Arg113Leu)
NM_000565.4(IL6R):c.284C>G (p.Ser95Ter)
NM_000565.4(IL6R):c.368G>A (p.Arg123Gln)
NM_000733.4(CD3E):c.409G>A (p.Asp137Asn)
NM_000878.5(IL2RB):c.1021G>A (p.Asp341Asn)
NM_001006658.3(CR2):c.2495G>A (p.Ser832Asn) rs775501900
NM_001013838.3(CARMIL2):c.1828A>C (p.Asn610His)
NM_001083116.3(PRF1):c.47C>T (p.Pro16Leu) rs751379475
NM_001083116.3(PRF1):c.647T>C (p.Ile216Thr)
NM_001085487.3(MYSM1):c.2030A>G (p.Gln677Arg)
NM_001085487.3(MYSM1):c.44T>G (p.Val15Gly)
NM_001113378.2(FANCI):c.1240C>T (p.Pro414Ser)
NM_001164277.2(SLC37A4):c.1049G>T (p.Gly350Val)
NM_001164277.2(SLC37A4):c.812T>A (p.Val271Asp)
NM_001167.4(XIAP):c.1301-1G>A
NM_001167.4(XIAP):c.185G>A (p.Arg62Gln)
NM_001183.6(ATP6AP1):c.473A>T (p.His158Leu)
NM_001199138.2(NLRC4):c.1212C>G (p.His404Gln)
NM_001199138.2(NLRC4):c.2908T>C (p.Phe970Leu)
NM_001243133.2(NLRP3):c.1633C>G (p.Pro545Ala) rs200088340
NM_001322934.2(NFKB2):c.2085T>A (p.His695Gln)
NM_001322934.2(NFKB2):c.657C>T (p.Asp219=)
NM_001354930.2(RIPK1):c.1122_1123delinsAA (p.Gln375Lys)
NM_001364905.1(LRBA):c.2191A>C (p.Lys731Gln)
NM_001364905.1(LRBA):c.5234C>G (p.Pro1745Arg)
NM_001364905.1(LRBA):c.6056A>G (p.Glu2019Gly)
NM_001364905.1(LRBA):c.6998C>T (p.Ser2333Phe)
NM_001364905.1(LRBA):c.7364C>G (p.Ala2455Gly) rs542791563
NM_001370466.1(NOD2):c.2865T>G (p.Asn955Lys)
NM_001375808.2(LPIN2):c.2442+3_2442+6del rs2144115996
NM_001378156.1(C1QB):c.371C>A (p.Ala124Asp)
NM_001430.5(EPAS1):c.1635C>G (p.Ile545Met)
NM_001430.5(EPAS1):c.605A>G (p.Tyr202Cys)
NM_001556.3(IKBKB):c.1173C>A (p.Asp391Glu)
NM_001558.4(IL10RA):c.637A>G (p.Ser213Gly)
NM_001710.6(CFB):c.2023G>A (p.Val675Met)
NM_001770.6(CD19):c.706G>C (p.Ala236Pro)
NM_001770.6(CD19):c.85G>C (p.Glu29Gln)
NM_001928.4(CFD):c.155G>A (p.Gly52Asp)
NM_001972.4(ELANE):c.392C>G (p.Ala131Gly)
NM_002184.4(IL6ST):c.769T>C (p.Tyr257His)
NM_002185.5(IL7R):c.380T>G (p.Val127Gly) rs751109965
NM_002295.6(RPSA):c.508T>G (p.Ser170Ala)
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002880.4(RAF1):c.1850A>C (p.Asn617Thr)
NM_003200.5(TCF3):c.1121C>A (p.Ala374Asp) rs753137385
NM_003200.5(TCF3):c.1543GAG[2] (p.Glu517del)
NM_003200.5(TCF3):c.1567G>A (p.Ala523Thr)
NM_003200.5(TCF3):c.386A>C (p.Glu129Ala)
NM_003200.5(TCF3):c.476G>A (p.Arg159Gln)
NM_003200.5(TCF3):c.632C>A (p.Pro211His)
NM_003839.4(TNFRSF11A):c.240G>T (p.Trp80Cys)
NM_003998.4(NFKB1):c.1870G>A (p.Ala624Thr)
NM_003998.4(NFKB1):c.2588A>G (p.Tyr863Cys)
NM_004523.4(KIF11):c.532G>C (p.Val178Leu)
NM_004972.4(JAK2):c.1414A>G (p.Ser472Gly)
NM_005026.5(PIK3CD):c.1243-7_1243-5del
NM_005026.5(PIK3CD):c.2780G>A (p.Arg927His)
NM_005026.5(PIK3CD):c.518C>A (p.Pro173His)
NM_005214.5(CTLA4):c.497T>C (p.Ile166Thr)
NM_005337.5(NCKAP1L):c.2718G>C (p.Lys906Asn)
NM_005419.4(STAT2):c.1466C>G (p.Pro489Arg) rs138681270
NM_005475.3(SH2B3):c.482C>T (p.Ala161Val)
NM_005546.4(ITK):c.1449+4T>C
NM_005546.4(ITK):c.1550G>A (p.Gly517Asp) rs2113776005
NM_005633.4(SOS1):c.3399T>C (p.Ala1133=)
NM_005633.4(SOS1):c.543A>C (p.Glu181Asp) rs201068374
NM_006060.6(IKZF1):c.1288G>C (p.Glu430Gln)
NM_006084.5(IRF9):c.407G>T (p.Ser136Ile)
NM_006118.4(HAX1):c.379G>T (p.Asp127Tyr)
NM_006767.4(LZTR1):c.2102C>T (p.Pro701Leu)
NM_006767.4(LZTR1):c.2350C>T (p.Gln784Ter) rs1489766065
NM_006767.4(LZTR1):c.2369G>C (p.Arg790Pro)
NM_006767.4(LZTR1):c.360C>G (p.His120Gln)
NM_006785.4(MALT1):c.2459_2469delinsTAATTTCTGTC (p.Arg820_Glu823delinsIleIleSerVal)
NM_006846.4(SPINK5):c.1739C>G (p.Pro580Arg) rs770045852
NM_006912.6(RIT1):c.650C>G (p.Ser217Ter)
NM_006939.4(SOS2):c.3542C>T (p.Pro1181Leu)
NM_006947.4(SRP72):c.1900G>C (p.Val634Leu)
NM_006947.4(SRP72):c.308G>A (p.Ser103Asn)
NM_006979.3(SLC39A7):c.1291G>A (p.Ala431Thr)
NM_007315.4(STAT1):c.500A>C (p.Gln167Pro)
NM_012250.6(RRAS2):c.139A>G (p.Ile47Val)
NM_012452.3(TNFRSF13B):c.751C>T (p.Pro251Ser)
NM_014550.4(CARD10):c.1307C>T (p.Thr436Met)
NM_015599.3(PGM3):c.985T>C (p.Tyr329His)
NM_015967.8(PTPN22):c.1894+2T>C
NM_018344.6(SLC29A3):c.1090C>T (p.Gln364Ter)
NM_020435.4(GJC2):c.32G>C (p.Arg11Pro)
NM_020831.6(MRTFA):c.1201G>A (p.Gly401Arg)
NM_020964.3(EPG5):c.6155A>G (p.His2052Arg)
NM_020964.3(EPG5):c.6634A>G (p.Lys2212Glu)
NM_021813.4(BACH2):c.2416G>C (p.Glu806Gln)
NM_022051.3(EGLN1):c.493C>G (p.Pro165Ala) rs200502960
NM_024570.4(RNASEH2B):c.162T>A (p.Asn54Lys)
NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr) rs759795184
NM_032043.3(BRIP1):c.62C>A (p.Ala21Asp) rs1603368436
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032415.7(CARD11):c.3185G>T (p.Arg1062Ile)
NM_032415.7(CARD11):c.3232G>C (p.Val1078Leu)
NM_032415.7(CARD11):c.992G>C (p.Arg331Pro)
NM_032444.4(SLX4):c.4921dup (p.Val1641fs) rs770425994
NM_032638.5(GATA2):c.1021_1024dup (p.Ala342fs) rs869320770
NM_133459.4(CCBE1):c.140G>C (p.Cys47Ser)
NM_133459.4(CCBE1):c.2T>G (p.Met1Arg)
NM_138348.6(OTULIN):c.349T>C (p.Phe117Leu)
NM_138576.4(BCL11B):c.307C>A (p.Arg103Ser)
NM_138636.5(TLR8):c.328C>G (p.Gln110Glu)
NM_139027.6(ADAMTS13):c.845T>A (p.Val282Glu)
NM_139276.3(STAT3):c.1997T>C (p.Leu666Pro)
NM_144687.4(NLRP12):c.2839G>C (p.Asp947His)
NM_148919.4(PSMB8):c.826C>G (p.Gln276Glu)
NM_152564.5(VPS13B):c.8423A>T (p.Asn2808Ile)
NM_172369.5(C1QC):c.644AGG[1] (p.Glu216del)
NM_181523.3(PIK3R1):c.1380_1397del (p.Ser460_Leu466delinsArg)
NM_181523.3(PIK3R1):c.1628G>A (p.Arg543Lys)
NM_181523.3(PIK3R1):c.811A>G (p.Met271Val)
NM_182972.3(IRF2BP2):c.1520C>T (p.Thr507Ile)
NM_182972.3(IRF2BP2):c.653G>C (p.Gly218Ala)
NM_198291.3(SRC):c.919C>T (p.Pro307Ser)
NM_203447.4(DOCK8):c.4659G>T (p.Met1553Ile)
NM_203447.4(DOCK8):c.5431_5433delinsCAA (p.Glu1811Gln)
NM_203447.4(DOCK8):c.5693C>T (p.Pro1898Leu) rs2057264393
NM_203447.4(DOCK8):c.5962G>C (p.Gly1988Arg) rs1482237306
NM_203447.4(DOCK8):c.6146del (p.Asn2049fs)

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