ClinVar Miner

List of variants reported as likely pathogenic for Inherited Immunodeficiency Diseases

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Total variants: 42
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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_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_001770.6(CD19):c.274G>T (p.Gly92Trp) rs758555433 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_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_001282225.2(ADA2):c.1110C>A (p.Asn370Lys) rs1489114116
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_003998.4(NFKB1):c.160-1G>A rs1578735709
NM_003998.4(NFKB1):c.187del (p.Glu63fs) rs1578735747
NM_003998.4(NFKB1):c.835+2T>C rs869320689
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
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_006060.6(IKZF1):c.1401C>G (p.Cys467Trp) rs1585040113
NM_006060.6(IKZF1):c.565A>G (p.Thr189Ala) rs1584926133
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_139276.3(STAT3):c.2119A>G (p.Lys707Glu) rs1598381169
NM_181523.3(PIK3R1):c.1300-2A>G rs1403833564
NM_203447.4(DOCK8):c.6071G>A (p.Cys2024Tyr) rs1587143342
Single allele

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