ClinVar Miner

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

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Total variants: 34
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HGVS dbSNP gnomAD frequency
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_002163.4(IRF8):c.1279dup (p.Ter427LeuextTer?) rs1567479117 0.00001
NM_006282.5(STK4):c.349C>T (p.Arg117Ter) rs387907316 0.00001
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000061.3(BTK):c.837T>A (p.Tyr279Ter) rs1603007888
NM_001322934.2(NFKB2):c.1469+1G>T rs1589866171
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001364905.1(LRBA):c.4522C>T (p.Gln1508Ter) rs1578971328
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.1621_1622del (p.Gln540_Asp541insTer) rs1578811245
NM_003998.4(NFKB1):c.295C>T (p.Gln99Ter) rs1578771211
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter) rs1578793312
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
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.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_007315.4(STAT1):c.1154C>T (p.Thr385Met) rs587777630
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.2144C>T (p.Pro715Leu) rs1064794957
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

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