ClinVar Miner

List of variants reported as uncertain significance for immune system disorder by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter) rs104895564 0.00044
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668 0.00030
NM_005045.4(RELN):c.8843+3A>C rs200124755 0.00029
NM_012452.3(TNFRSF13B):c.515G>A (p.Cys172Tyr) rs751216929 0.00020
NM_001737.5(C9):c.376G>A (p.Gly126Arg) rs199939436 0.00017
NM_000377.3(WAS):c.1208C>T (p.Pro403Leu) rs782666797 0.00006
NM_001083116.3(PRF1):c.749C>T (p.Thr250Met) rs775966864 0.00005
NM_001364905.1(LRBA):c.2195G>A (p.Ser732Asn) rs866092082 0.00005
NM_012452.3(TNFRSF13B):c.214C>T (p.Arg72Cys) rs375514495 0.00004
NM_203447.4(DOCK8):c.3043C>T (p.Arg1015Cys) rs369901029 0.00004
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001972.4(ELANE):c.354C>G (p.Ile118Met) rs759734732 0.00002
NM_005045.4(RELN):c.7282C>T (p.Arg2428Trp) rs751431158 0.00002
NM_005431.2(XRCC2):c.272G>A (p.Arg91Gln) rs776959023 0.00002
NM_032444.4(SLX4):c.1234A>G (p.Lys412Glu) rs774436086 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met) rs104895102 0.00001
NM_000433.4(NCF2):c.230G>A (p.Arg77Gln) rs119103275 0.00001
NM_000448.3(RAG1):c.1520G>A (p.Arg507Gln) rs143969029 0.00001
NM_001364905.1(LRBA):c.5401G>A (p.Glu1801Lys) rs199596976 0.00001
NM_001735.3(C5):c.3853T>C (p.Tyr1285His) rs754685328 0.00001
NM_003331.5(TYK2):c.2602C>T (p.Arg868Trp) rs762311335 0.00001
NM_005045.4(RELN):c.673T>G (p.Cys225Gly) rs371731772 0.00001
NM_018389.5(SLC35C1):c.151A>G (p.Thr51Ala) rs769916550 0.00001
NM_032977.4(CASP10):c.1197G>T (p.Gln399His) rs199626441 0.00001
NM_138387.4(G6PC3):c.479C>T (p.Ser160Leu) rs911423195 0.00001
NM_000022.4(ADA):c.1079-15T>A rs387906268
NM_000022.4(ADA):c.556G>A (p.Glu186Lys) rs1555844416
NM_000022.4(ADA):c.674A>T (p.Lys225Ile)
NM_000022.4(ADA):c.736C>T (p.Gln246Ter) rs1555844120
NM_000043.6(FAS):c.670_676del (p.Leu224fs)
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000064.4(C3):c.2740G>A (p.Ala914Thr)
NM_000065.5(C6):c.446G>A (p.Gly149Asp)
NM_000081.4(LYST):c.1860G>C (p.Leu620Phe)
NM_000135.4(FANCA):c.2187C>A (p.Asn729Lys)
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)
NM_000204.5(CFI):c.941-10T>C rs2126191742
NM_000211.5(ITGB2):c.2285T>G (p.Met762Arg)
NM_000215.4(JAK3):c.1207C>T (p.Arg403Cys)
NM_000215.4(JAK3):c.2609G>T (p.Arg870Leu)
NM_000215.4(JAK3):c.658G>C (p.Ala220Pro)
NM_000243.3(MEFV):c.1773T>G (p.Ile591Met) rs141706767
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.656dup (p.Ala220fs) rs774061491
NM_000271.5(NPC1):c.2451_2454del (p.Leu817fs) rs1555633637
NM_000271.5(NPC1):c.3680G>C (p.Arg1227Thr)
NM_000355.4(TCN2):c.64+4A>T
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
NM_000397.4(CYBB):c.62del (p.Gly20_Leu21insTer)
NM_000397.4(CYBB):c.675-1157A>G
NM_000448.3(RAG1):c.2161C>G (p.Leu721Val) rs1590703677
NM_000448.3(RAG1):c.2882G>T (p.Ser961Ile)
NM_000448.3(RAG1):c.865A>G (p.Lys289Glu)
NM_000536.4(RAG2):c.1185TGA[2] (p.Asp397del) rs567942993
NM_000536.4(RAG2):c.487C>T (p.Pro163Ser)
NM_000543.5(SMPD1):c.1244C>T (p.Ala415Val)
NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn) rs747342458
NM_000551.4(VHL):c.-61_-51dup rs727503743
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000593.6(TAP1):c.1147G>A (p.Glu383Lys)
NM_000629.3(IFNAR1):c.*2205_*2213del
NM_000629.3(IFNAR1):c.1671_*1821del (p.Ter558AlaextTer?)
NM_000629.3(IFNAR1):c.1672T>C (p.Ter558Arg)
NM_000629.3(IFNAR1):c.1672_*3del (p.Ter558del) rs2123277634
NM_000671.4(ADH5):c.938_943del (p.Thr313_Trp314del)
NM_000733.4(CD3E):c.521-1G>A
NM_000760.4(CSF3R):c.2476C>T (p.Arg826Trp)
NM_001012339.3(DNAJC21):c.203A>G (p.His68Arg)
NM_001018115.3(FANCD2):c.1166A>G (p.Tyr389Cys) rs2087019381
NM_001033855.3(DCLRE1C):c.1299A>G (p.Pro433=)
NM_001033855.3(DCLRE1C):c.350C>A (p.Pro117Gln)
NM_001033855.3(DCLRE1C):c.99C>G (p.His33Gln)
NM_001039396.2(MPEG1):c.1078T>A (p.Phe360Ile)
NM_001039396.2(MPEG1):c.623G>A (p.Ser208Asn)
NM_001083116.3(PRF1):c.1025C>T (p.Thr342Ile)
NM_001118887.2(ANGPT2):c.958G>C (p.Gly320Arg)
NM_001142864.4(PIEZO1):c.6211T>C (p.Cys2071Arg) rs2142759722
NM_001183.6(ATP6AP1):c.725G>A (p.Arg242His)
NM_001243133.2(NLRP3):c.2371G>T (p.Val791Phe)
NM_001243133.2(NLRP3):c.2377A>T (p.Ser793Cys)
NM_001290043.2(TAP2):c.1583T>C (p.Leu528Pro)
NM_001364905.1(LRBA):c.1412GAG[1] (p.Gly472del)
NM_001364905.1(LRBA):c.2351A>T (p.Tyr784Phe)
NM_001364905.1(LRBA):c.8078C>T (p.Ala2693Val) rs562981599
NM_001364905.1(LRBA):c.894+5A>G
NM_001366385.1(CARD14):c.2536_2537del (p.Cys846fs)
NM_001370466.1(NOD2):c.1717G>A (p.Glu573Lys) rs1964520477
NM_001378687.1(ATP2C1):c.2167A>G (p.Met723Val)
NM_001382567.1(STIM1):c.241G>T (p.Gly81Cys)
NM_001382567.1(STIM1):c.792-3C>G rs201348785
NM_001430.5(EPAS1):c.826T>A (p.Ser276Thr)
NM_001558.4(IL10RA):c.799C>G (p.Pro267Ala)
NM_001625.4(AK2):c.79G>C (p.Gly27Arg)
NM_001814.6(CTSC):c.899G>A (p.Gly300Asp)
NM_002185.5(IL7R):c.137T>G (p.Leu46Trp)
NM_002185.5(IL7R):c.885del (p.Asn295fs) rs786205646
NM_002524.5(NRAS):c.179G>T (p.Gly60Val) rs267606920
NM_002661.5(PLCG2):c.3679A>T (p.Asn1227Tyr)
NM_002834.5(PTPN11):c.181G>T (p.Asp61Tyr) rs397507510
NM_003177.7(SYK):c.1301G>A (p.Arg434Gln)
NM_003325.4(HIRA):c.41A>G (p.Lys14Arg)
NM_003327.4(TNFRSF4):c.678del (p.Leu227fs) rs2100949816
NM_003664.5(AP3B1):c.1933G>A (p.Asp645Asn) rs797045241
NM_003721.4(RFXANK):c.477C>A (p.Ser159Arg) rs368281475
NM_003721.4(RFXANK):c.6delinsCTTA (p.Glu2delinsAspLeu)
NM_004343.4(CALR):c.1154_1155insTGTCG (p.Lys385fs)
NM_004364.5(CEBPA):c.103del (p.Arg35fs)
NM_004364.5(CEBPA):c.921_938del (p.Asn307_Gln312del)
NM_004972.4(JAK2):c.1619_1627del (p.Ile540_Glu543delinsLys)
NM_005026.5(PIK3CD):c.2347+3G>A
NM_005045.4(RELN):c.1901G>A (p.Arg634Gln) rs779205093
NM_005045.4(RELN):c.217G>C (p.Glu73Gln)
NM_005045.4(RELN):c.3485dup (p.Ile1163fs) rs1831540545
NM_005045.4(RELN):c.8654C>T (p.Thr2885Ile)
NM_005214.5(CTLA4):c.457+1_457+3del
NM_005214.5(CTLA4):c.94C>G (p.Pro32Ala)
NM_005223.4(DNASE1):c.398G>A (p.Arg133Gln)
NM_005263.5(GFI1):c.925-40CT[25] rs35896485
NM_005475.3(SH2B3):c.1325A>C (p.Gln442Pro)
NM_005488.3(TOM1):c.1407_1415dup (p.Pro472_Ser473insGlyProPro)
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005739.4(RASGRP1):c.1147C>A (p.Leu383Ile)
NM_006118.4(HAX1):c.622T>A (p.Phe208Ile)
NM_006254.4(PRKCD):c.315G>A (p.Trp105Ter) rs2107257487
NM_006397.3(RNASEH2A):c.622T>C (p.Ser208Pro) rs2145827947
NM_006469.5(IVNS1ABP):c.610C>T (p.Arg204Cys)
NM_006785.4(MALT1):c.1733T>C (p.Leu578Pro)
NM_006785.4(MALT1):c.2155C>T (p.Arg719Ter)
NM_006912.6(RIT1):c.520G>A (p.Val174Ile)
NM_006929.5(SKIC2):c.1114G>A (p.Asp372Asn)
NM_006929.5(SKIC2):c.1598C>T (p.Ala533Val)
NM_006949.4(STXBP2):c.493C>T (p.Arg165Cys) rs1364548535
NM_007074.4(CORO1A):c.602G>A (p.Arg201His)
NM_012092.4(ICOS):c.451G>A (p.Val151Ile)
NM_012448.4(STAT5B):c.182T>C (p.Leu61Pro)
NM_012448.4(STAT5B):c.670C>G (p.Gln224Glu)
NM_014009.4(FOXP3):c.929G>A (p.Arg310Lys)
NM_014140.4(SMARCAL1):c.2201A>G (p.His734Arg) rs886043438
NM_014243.3(ADAMTS3):c.2878C>T (p.Pro960Ser)
NM_014243.3(ADAMTS3):c.3104G>A (p.Arg1035Gln)
NM_014339.7(IL17RA):c.1574T>C (p.Leu525Pro)
NM_014439.4(IL37):c.3G>A (p.Met1Ile)
NM_014550.4(CARD10):c.863A>C (p.Gln288Pro)
NM_014639.4(SKIC3):c.1045A>G (p.Arg349Gly)
NM_015122.3(FCHO1):c.596G>A (p.Arg199His)
NM_015967.8(PTPN22):c.91C>G (p.Leu31Val)
NM_016123.4(IRAK4):c.1063A>G (p.Met355Val)
NM_018344.6(SLC29A3):c.1402T>A (p.Ser468Thr)
NM_018389.5(SLC35C1):c.641T>C (p.Ile214Thr)
NM_018518.5(MCM10):c.1553T>C (p.Phe518Ser)
NM_020207.7(ERCC6L2):c.3309dup (p.Ser1104fs)
NM_020207.7(ERCC6L2):c.3740_3741del (p.Ile1247fs)
NM_020435.4(GJC2):c.107del (p.Ile36fs) rs1571907430
NM_020435.4(GJC2):c.619G>A (p.Glu207Lys)
NM_020435.4(GJC2):c.914dup (p.Ala306fs)
NM_020964.3(EPG5):c.5490C>A (p.Tyr1830Ter)
NM_021023.6(CFHR3):c.952_953insGGAA (p.Val318fs)
NM_021035.3(ZNFX1):c.3292_3302del (p.Leu1098fs)
NM_021035.3(ZNFX1):c.3469C>G (p.Leu1157Val)
NM_022168.4(IFIH1):c.2808-7C>T
NM_022725.4(FANCF):c.248T>C (p.Phe83Ser)
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024570.4(RNASEH2B):c.818A>T (p.Glu273Val)
NM_024598.4(USB1):c.334dup (p.Arg112fs) rs1555498117
NM_024715.4(TXNDC15):c.703C>T (p.Arg235Trp)
NM_030803.7(ATG16L1):c.632_633del (p.Lys211fs)
NM_032415.7(CARD11):c.2644G>A (p.Asp882Asn)
NM_032415.7(CARD11):c.2894T>C (p.Leu965Pro)
NM_032444.4(SLX4):c.951-3C>G
NM_032638.5(GATA2):c.1160_1168del (p.Thr387_Lys389del) rs1553770444
NM_138387.4(G6PC3):c.552G>A (p.Trp184Ter)
NM_138576.4(BCL11B):c.1644C>A (p.Asn548Lys)
NM_138636.5(TLR8):c.3029C>G (p.Ala1010Gly)
NM_139159.5(DPP9):c.902C>T (p.Thr301Met)
NM_139159.5(DPP9):c.928G>A (p.Asp310Asn)
NM_139276.3(STAT3):c.1869G>T (p.Trp623Cys)
NM_139276.3(STAT3):c.974G>A (p.Arg325Gln)
NM_152564.5(VPS13B):c.11938T>G (p.Phe3980Val)
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs) rs2130858031
NM_181078.3(IL21R):c.563del (p.Leu188fs) rs2087444941
NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys) rs540361957
NM_182925.5(FLT4):c.343T>C (p.Tyr115His)
NM_182925.5(FLT4):c.677-3C>T
NM_199242.3(UNC13D):c.2448-13G>A rs753762300
NM_203447.4(DOCK8):c.387G>C (p.Trp129Cys)
NM_203447.4:c.-469_156+28del

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