ClinVar Miner

List of variants reported for Inherited Immunodeficiency Diseases by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_014639.4(SKIC3):c.3625C>T (p.Arg1209Ter) rs140800288 0.00006
NM_001364905.1(LRBA):c.1897C>T (p.Arg633Ter) rs770266168 0.00003
NM_000448.3(RAG1):c.2210G>A (p.Arg737His) rs104894286 0.00002
NM_000448.3(RAG1):c.334C>T (p.Arg112Cys) rs146457887 0.00002
NM_012092.4(ICOS):c.356T>C (p.Phe119Ser) rs375299065 0.00002
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300 0.00002
NM_052813.5(CARD9):c.638del (p.Leu213fs) rs1379376784 0.00002
NM_000383.4(AIRE):c.1A>G (p.Met1Val) rs121434258 0.00001
NM_000416.3(IFNGR1):c.523del (p.Tyr175fs) rs749956849 0.00001
NM_001322934.2(NFKB2):c.1903C>T (p.Arg635Ter) rs748910652 0.00001
NM_001770.6(CD19):c.274G>T (p.Gly92Trp) rs758555433 0.00001
NM_002163.4(IRF8):c.1279dup (p.Ter427LeuextTer?) rs1567479117 0.00001
NM_003721.4(RFXANK):c.584T>C (p.Leu195Pro) rs751386365 0.00001
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln) rs1581573705 0.00001
NM_006060.6(IKZF1):c.550C>T (p.Arg184Trp) rs1584926038 0.00001
NM_006282.5(STK4):c.349C>T (p.Arg117Ter) rs387907316 0.00001
NC_000002.12:g.203867482_203869297del
NC_000002.12:g.203870597_203875386del
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000061.3(BTK):c.1580G>A (p.Cys527Tyr) rs1057520578
NM_000061.3(BTK):c.240G>A (p.Pro80=) rs1569296295
NM_000061.3(BTK):c.43C>T (p.Gln15Ter) rs128620188
NM_000061.3(BTK):c.764G>A (p.Arg255Gln) rs1603008329
NM_000061.3(BTK):c.837T>A (p.Tyr279Ter) rs1603007888
NM_001099274.3(TINF2):c.1061+1G>T rs1594550523
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys) rs1489114116
NM_001322934.2(NFKB2):c.1469+1G>T rs1589866171
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001363.5(DKC1):c.1346G>A (p.Arg449Gln) rs1289430524
NM_001364905.1(LRBA):c.2258+3dup rs1579059712
NM_001364905.1(LRBA):c.4522C>T (p.Gln1508Ter) rs1578971328
NM_001364905.1(LRBA):c.8422G>T (p.Gly2808Ter) rs1171694504
NM_001367916.1(MAGT1):c.992+1G>A rs1557213306
NM_001770.6(CD19):c.321G>A (p.Trp107Ter) rs1596712783
NM_001783.4(CD79A):c.323T>G (p.Val108Gly) rs1600631294
NM_003467.3(CXCR4):c.950_953del (p.Leu317fs) rs1573613529
NM_003998.4(NFKB1):c.1005del (p.Arg336fs) rs1578795536
NM_003998.4(NFKB1):c.1423del (p.Ala475fs) rs1578809101
NM_003998.4(NFKB1):c.1539_1543del (p.His513fs) rs1578811073
NM_003998.4(NFKB1):c.160-1G>A rs1578735709
NM_003998.4(NFKB1):c.1621_1622del (p.Gln540_Asp541insTer) rs1578811245
NM_003998.4(NFKB1):c.187del (p.Glu63fs) rs1578735747
NM_003998.4(NFKB1):c.295C>T (p.Gln99Ter) rs1578771211
NM_003998.4(NFKB1):c.835+2T>C rs869320689
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter) rs1578793312
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005214.5(CTLA4):c.127C>G (p.Pro43Ala) rs1581573640
NM_005214.5(CTLA4):c.410C>G (p.Pro137Arg) rs1553657429
NM_005535.3(IL12RB1):c.518G>C (p.Arg173Pro) rs756272570
NM_005535.3(IL12RB1):c.962C>A (p.Ser321Ter) rs147766868
NM_005720.4(ARPC1B):c.490_491insCC (p.Phe164fs) rs1584409386
NM_006060.6(IKZF1):c.1401C>G (p.Cys467Trp) rs1585040113
NM_006060.6(IKZF1):c.476A>G (p.Asn159Ser) rs374333820
NM_006060.6(IKZF1):c.484C>T (p.Arg162Trp) rs1584925614
NM_006060.6(IKZF1):c.500A>G (p.His167Arg) rs869312884
NM_006060.6(IKZF1):c.565A>G (p.Thr189Ala) rs1584926133
NM_007315.4(STAT1):c.1154C>T (p.Thr385Met) rs587777630
NM_007315.4(STAT1):c.209G>C (p.Arg70Pro) rs1574672718
NM_007315.4(STAT1):c.2159C>T (p.Thr720Ile) rs1574636674
NM_007315.4(STAT1):c.520T>C (p.Cys174Arg) rs387906763
NM_007315.4(STAT1):c.839T>G (p.Leu280Trp) rs1574657762
NM_007315.4(STAT1):c.850G>A (p.Glu284Lys) rs1574657750
NM_007315.4(STAT1):c.859T>G (p.Tyr287Asp) rs1574657735
NM_012092.4(ICOS):c.58+1G>A rs757598952
NM_014140.4(SMARCAL1):c.1146_1147+2del rs1574450161
NM_014639.4(SKIC3):c.1757+1G>A rs570910902
NM_020529.3(NFKBIA):c.32G>A (p.Trp11Ter) rs121913664
NM_138387.4(G6PC3):c.911dup (p.Gln305fs) rs34019455
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln) rs113994136
NM_139276.3(STAT3):c.2119A>G (p.Lys707Glu) rs1598381169
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu) rs1064794957
NM_139276.3(STAT3):c.812C>T (p.Ala271Val) rs1598415756
NM_139276.3(STAT3):c.870A>T (p.Lys290Asn) rs1598415635
NM_139276.3(STAT3):c.986T>G (p.Met329Arg) rs1555566820
NM_181523.3(PIK3R1):c.1300-2A>G rs1403833564
NM_181523.3(PIK3R1):c.1422_1425+1del rs1580262965
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_198253.3(TERT):c.1381G>T (p.Val461Leu) rs1579596470
NM_203447.4(DOCK8):c.3438_3439del (p.Met1146fs) rs1586940273
NM_203447.4(DOCK8):c.6071G>A (p.Cys2024Tyr) rs1587143342
Single allele

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