ClinVar Miner

List of variants in gene IGLL1 studied for Agammaglobulinemia 2, autosomal recessive

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Gene type:
ClinVar version:
Total variants: 212
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HGVS dbSNP gnomAD frequency
NM_020070.4(IGLL1):c.443C>T (p.Thr148Ile) rs73157031 0.10956
NM_020070.4(IGLL1):c.566G>A (p.Arg189His) rs8138122 0.03470
NM_020070.4(IGLL1):c.475G>A (p.Gly159Ser) rs139571703 0.03034
NM_020070.4(IGLL1):c.549C>T (p.Pro183=) rs75088277 0.02804
NM_020070.4(IGLL1):c.276C>T (p.Asn92=) rs116275804 0.02588
NM_020070.4(IGLL1):c.464C>T (p.Pro155Leu) rs145176864 0.02290
NM_020070.4(IGLL1):c.507C>T (p.Ser169=) rs74519217 0.02030
NM_020070.4(IGLL1):c.512A>G (p.Asn171Ser) rs1064421 0.00740
NM_020070.4(IGLL1):c.309G>A (p.Gln103=) rs114285337 0.00642
NM_020070.4(IGLL1):c.521C>T (p.Ala174Val) rs1064419 0.00538
NM_020070.4(IGLL1):c.350C>T (p.Thr117Ile) rs143780139 0.00213
NM_020070.4(IGLL1):c.393T>C (p.Ala131=) rs1064424 0.00182
NM_020070.4(IGLL1):c.67C>T (p.Arg23Cys) rs114766892 0.00155
NM_020070.4(IGLL1):c.207-9T>A rs201800585 0.00137
NM_020070.4(IGLL1):c.420T>C (p.Phe140=) rs1064423 0.00135
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr) rs149986237 0.00115
NM_020070.4(IGLL1):c.336C>T (p.Ala112=) rs140494226 0.00113
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) rs139491925 0.00106
NM_020070.4(IGLL1):c.618G>A (p.Thr206=) rs147356355 0.00106
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) rs1064422 0.00104
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) rs112775194 0.00100
NM_020070.4(IGLL1):c.342C>G (p.Pro114=) rs146831457 0.00083
NM_020070.4(IGLL1):c.359C>T (p.Pro120Leu) rs142384414 0.00059
NM_020070.4(IGLL1):c.423T>C (p.Tyr141=) rs143849749 0.00055
NM_020070.4(IGLL1):c.546G>C (p.Thr182=) rs146592375 0.00041
NM_020070.4(IGLL1):c.458G>T (p.Gly153Val) rs138007109 0.00039
NM_020070.4(IGLL1):c.594C>T (p.His198=) rs1064418 0.00038
NM_020070.4(IGLL1):c.478G>A (p.Val160Met) rs138799296 0.00035
NM_020070.4(IGLL1):c.588C>T (p.Val196=) rs151337964 0.00033
NM_020070.4(IGLL1):c.36C>T (p.Ala12=) rs556803233 0.00019
NM_020070.4(IGLL1):c.111C>G (p.Gly37=) rs780805400 0.00016
NM_020070.4(IGLL1):c.223G>A (p.Gly75Ser) rs201907837 0.00015
NM_020070.4(IGLL1):c.219G>A (p.Gln73=) rs542469985 0.00013
NM_020070.4(IGLL1):c.492G>A (p.Thr164=) rs148071349 0.00013
NM_020070.4(IGLL1):c.438G>A (p.Thr146=) rs377678203 0.00011
NM_020070.4(IGLL1):c.142A>G (p.Arg48Gly) rs555319123 0.00010
NM_020070.4(IGLL1):c.253C>T (p.Arg85Trp) rs369768094 0.00009
NM_020070.4(IGLL1):c.550G>A (p.Glu184Lys) rs199906829 0.00009
NM_020070.4(IGLL1):c.21G>C (p.Gln7His) rs1044209410 0.00008
NM_020070.4(IGLL1):c.241A>G (p.Arg81Gly) rs146980954 0.00008
NM_020070.4(IGLL1):c.363G>A (p.Pro121=) rs146127121 0.00008
NM_020070.4(IGLL1):c.415G>A (p.Asp139Asn) rs374565313 0.00007
NM_020070.4(IGLL1):c.178C>T (p.Arg60Trp) rs146108390 0.00006
NM_020070.4(IGLL1):c.197G>A (p.Arg66Gln) rs569884568 0.00006
NM_020070.4(IGLL1):c.345G>A (p.Ser115=) rs373712072 0.00006
NM_020070.4(IGLL1):c.377T>C (p.Leu126Pro) rs142959335 0.00006
NM_020070.4(IGLL1):c.606_607del (p.Val203fs) rs765895465 0.00006
NM_020070.4(IGLL1):c.118C>T (p.Arg40Cys) rs199529532 0.00005
NM_020070.4(IGLL1):c.135G>A (p.Ser45=) rs753138972 0.00005
NM_020070.4(IGLL1):c.221G>A (p.Arg74His) rs368706509 0.00005
NM_020070.4(IGLL1):c.234T>G (p.Thr78=) rs148009596 0.00005
NM_020070.4(IGLL1):c.367T>C (p.Ser123Pro) rs752183941 0.00005
NM_020070.4(IGLL1):c.323-7C>T rs750211329 0.00004
NM_020070.4(IGLL1):c.360G>A (p.Pro120=) rs184173813 0.00004
NM_020070.4(IGLL1):c.368C>G (p.Ser123Cys) rs537809626 0.00004
NM_020070.4(IGLL1):c.527G>A (p.Ser176Asn) rs765426613 0.00004
NM_020070.4(IGLL1):c.606C>T (p.Thr202=) rs776330273 0.00004
NM_020070.4(IGLL1):c.134C>T (p.Ser45Leu) rs758781859 0.00003
NM_020070.4(IGLL1):c.288T>G (p.His96Gln) rs766149395 0.00003
NM_020070.4(IGLL1):c.327G>A (p.Gln109=) rs376293773 0.00003
NM_020070.4(IGLL1):c.206+3A>G rs780565684 0.00002
NM_020070.4(IGLL1):c.301G>A (p.Gly101Arg) rs775909535 0.00002
NM_020070.4(IGLL1):c.316G>A (p.Val106Ile) rs747083240 0.00002
NM_020070.4(IGLL1):c.35C>T (p.Ala12Val) rs775788164 0.00002
NM_020070.4(IGLL1):c.362C>T (p.Pro121Leu) rs746843426 0.00002
NM_020070.4(IGLL1):c.426G>A (p.Pro142=) rs560833188 0.00002
NM_020070.4(IGLL1):c.454G>A (p.Asp152Asn) rs766752741 0.00002
NM_020070.4(IGLL1):c.495C>T (p.Pro165=) rs374132554 0.00002
NM_020070.4(IGLL1):c.605C>G (p.Thr202Ser) rs369307571 0.00002
NM_020070.4(IGLL1):c.149T>C (p.Leu50Pro) rs1211188168 0.00001
NM_020070.4(IGLL1):c.163C>T (p.Pro55Ser) rs759845022 0.00001
NM_020070.4(IGLL1):c.203G>A (p.Gly68Asp) rs745592691 0.00001
NM_020070.4(IGLL1):c.236G>A (p.Gly79Asp) rs1330350014 0.00001
NM_020070.4(IGLL1):c.258G>A (p.Gly86=) rs756305081 0.00001
NM_020070.4(IGLL1):c.285G>A (p.Thr95=) rs753649042 0.00001
NM_020070.4(IGLL1):c.322+4A>T rs753787644 0.00001
NM_020070.4(IGLL1):c.322+9C>T rs1262115754 0.00001
NM_020070.4(IGLL1):c.323-18C>G rs748268331 0.00001
NM_020070.4(IGLL1):c.323-3C>A rs781180907 0.00001
NM_020070.4(IGLL1):c.338C>A (p.Thr113Asn) rs765704270 0.00001
NM_020070.4(IGLL1):c.341C>T (p.Pro114Leu) rs575368058 0.00001
NM_020070.4(IGLL1):c.344C>T (p.Ser115Leu) rs539240472 0.00001
NM_020070.4(IGLL1):c.446G>T (p.Trp149Leu) rs1284827222 0.00001
NM_020070.4(IGLL1):c.477C>T (p.Gly159=) rs775680760 0.00001
NM_020070.4(IGLL1):c.522G>A (p.Ala174=) rs374026526 0.00001
NM_020070.4(IGLL1):c.545C>T (p.Thr182Met) rs761551186 0.00001
NM_020070.4(IGLL1):c.54C>G (p.Pro18=) rs1437649021 0.00001
NM_020070.4(IGLL1):c.585G>T (p.Gln195His) rs530821067 0.00001
NM_020070.4(IGLL1):c.590T>C (p.Met197Thr) rs772660059 0.00001
NM_020070.4(IGLL1):c.607G>A (p.Val203Met) rs771552908 0.00001
NM_020070.4(IGLL1):c.617C>T (p.Thr206Met) rs758735353 0.00001
NM_020070.4(IGLL1):c.64C>T (p.Gln22Ter) rs74315491 0.00001
NC_000022.10:g.(?_23915433)_(23922397_?)dup
NC_000022.10:g.(?_23915453)_(23915792_?)dup
NC_000022.10:g.(?_23915453)_(23922377_?)dup
NC_000022.10:g.(?_23917134)_(23922377_?)del
NC_000022.10:g.(?_23917134)_(23922377_?)dup
NC_000022.10:g.(?_23917134)_(23922397_?)dup
NC_000022.10:g.(?_23922152)_(23922397_?)del
NC_000022.11:g.(?_23574947)_(23580210_?)del
NM_020070.4(IGLL1):c.102A>G (p.Val34=)
NM_020070.4(IGLL1):c.117G>A (p.Leu39=)
NM_020070.4(IGLL1):c.119G>A (p.Arg40His)
NM_020070.4(IGLL1):c.119G>T (p.Arg40Leu)
NM_020070.4(IGLL1):c.123A>G (p.Pro41=)
NM_020070.4(IGLL1):c.14C>G (p.Thr5Arg) rs2123706017
NM_020070.4(IGLL1):c.152_158dup (p.Ala54fs) rs1925262225
NM_020070.4(IGLL1):c.157G>T (p.Gly53Ter) rs1256867431
NM_020070.4(IGLL1):c.161C>A (p.Ala54Asp)
NM_020070.4(IGLL1):c.161_169dup (p.Ala54_Gly56dup) rs2123705600
NM_020070.4(IGLL1):c.163_164dup (p.Gly56fs)
NM_020070.4(IGLL1):c.178C>G (p.Arg60Gly) rs146108390
NM_020070.4(IGLL1):c.179G>A (p.Arg60Gln)
NM_020070.4(IGLL1):c.17G>T (p.Gly6Val) rs1460659708
NM_020070.4(IGLL1):c.180G>A (p.Arg60=)
NM_020070.4(IGLL1):c.196C>G (p.Arg66Gly)
NM_020070.4(IGLL1):c.196C>T (p.Arg66Trp)
NM_020070.4(IGLL1):c.197G>T (p.Arg66Leu) rs569884568
NM_020070.4(IGLL1):c.206G>C (p.Arg69Thr)
NM_020070.4(IGLL1):c.207-3C>G
NM_020070.4(IGLL1):c.207-4G>T
NM_020070.4(IGLL1):c.207-8C>T rs1459622736
NM_020070.4(IGLL1):c.210C>T (p.Phe70=) rs2123698333
NM_020070.4(IGLL1):c.213G>A (p.Leu71=)
NM_020070.4(IGLL1):c.216C>T (p.Leu72=) rs2123698319
NM_020070.4(IGLL1):c.220C>T (p.Arg74Cys)
NM_020070.4(IGLL1):c.222C>T (p.Arg74=) rs111509516
NM_020070.4(IGLL1):c.232A>C (p.Thr78Pro) rs2123698257
NM_020070.4(IGLL1):c.234T>C (p.Thr78=) rs148009596
NM_020070.4(IGLL1):c.238C>G (p.Pro80Ala) rs766027584
NM_020070.4(IGLL1):c.252C>T (p.Pro84=)
NM_020070.4(IGLL1):c.254G>A (p.Arg85Gln) rs200178386
NM_020070.4(IGLL1):c.254G>T (p.Arg85Leu) rs200178386
NM_020070.4(IGLL1):c.258del (p.Gln88fs) rs532338576
NM_020070.4(IGLL1):c.263A>C (p.Gln88Pro)
NM_020070.4(IGLL1):c.266C>T (p.Ser89Phe)
NM_020070.4(IGLL1):c.267C>T (p.Ser89=)
NM_020070.4(IGLL1):c.26dup (p.Leu10fs) rs1569072706
NM_020070.4(IGLL1):c.272A>G (p.His91Arg)
NM_020070.4(IGLL1):c.281_284dup (p.His96fs)
NM_020070.4(IGLL1):c.284C>A (p.Thr95Lys) rs116041505
NM_020070.4(IGLL1):c.284C>T (p.Thr95Met)
NM_020070.4(IGLL1):c.286C>T (p.His96Tyr)
NM_020070.4(IGLL1):c.300C>T (p.Ser100=) rs115303391
NM_020070.4(IGLL1):c.306C>T (p.Thr102=)
NM_020070.4(IGLL1):c.315C>T (p.Thr105=) rs2275975
NM_020070.4(IGLL1):c.318T>C (p.Val106=)
NM_020070.4(IGLL1):c.321A>G (p.Leu107=)
NM_020070.4(IGLL1):c.322+15C>T rs2123698065
NM_020070.4(IGLL1):c.322+3_322+6del rs1184765604
NM_020070.4(IGLL1):c.322+4A>G rs753787644
NM_020070.4(IGLL1):c.322+8G>A rs1924982404
NM_020070.4(IGLL1):c.323-20C>T
NM_020070.4(IGLL1):c.323G>A (p.Ser108Asn) rs1025960361
NM_020070.4(IGLL1):c.335C>A (p.Ala112Asp) rs2123696242
NM_020070.4(IGLL1):c.356T>A (p.Phe119Tyr)
NM_020070.4(IGLL1):c.359C>A (p.Pro120Gln)
NM_020070.4(IGLL1):c.35C>A (p.Ala12Asp)
NM_020070.4(IGLL1):c.379del (p.Gln127fs) rs1924897060
NM_020070.4(IGLL1):c.385A>C (p.Asn129His) rs1304505064
NM_020070.4(IGLL1):c.392C>T (p.Ala131Val)
NM_020070.4(IGLL1):c.399G>A (p.Leu133=)
NM_020070.4(IGLL1):c.409A>G (p.Met137Val)
NM_020070.4(IGLL1):c.415_418delinsAAC (p.Asp139fs)
NM_020070.4(IGLL1):c.421del (p.Tyr141fs) rs765603007
NM_020070.4(IGLL1):c.438G>C (p.Thr146=) rs377678203
NM_020070.4(IGLL1):c.444C>G (p.Thr148=)
NM_020070.4(IGLL1):c.45G>A (p.Glu15=) rs1023913513
NM_020070.4(IGLL1):c.460A>T (p.Thr154Ser) rs1602287119
NM_020070.4(IGLL1):c.465del (p.Ile156fs)
NM_020070.4(IGLL1):c.468C>A (p.Ile156=) rs536839343
NM_020070.4(IGLL1):c.46C>T (p.Pro16Ser)
NM_020070.4(IGLL1):c.485T>A (p.Met162Lys) rs111903752
NM_020070.4(IGLL1):c.485T>C (p.Met162Thr) rs111903752
NM_020070.4(IGLL1):c.489C>T (p.Thr163=)
NM_020070.4(IGLL1):c.491C>T (p.Thr164Met)
NM_020070.4(IGLL1):c.497C>G (p.Ser166Cys)
NM_020070.4(IGLL1):c.507CAA[2] (p.Asn171del)
NM_020070.4(IGLL1):c.513C>G (p.Asn171Lys)
NM_020070.4(IGLL1):c.515A>G (p.Lys172Arg)
NM_020070.4(IGLL1):c.519C>T (p.Tyr173=)
NM_020070.4(IGLL1):c.520G>A (p.Ala174Thr) rs199718215
NM_020070.4(IGLL1):c.520G>T (p.Ala174Ser) rs199718215
NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met) rs1555903974
NM_020070.4(IGLL1):c.521delinsAT (p.Ala174fs)
NM_020070.4(IGLL1):c.525C>T (p.Ala175=) rs2123695696
NM_020070.4(IGLL1):c.52C>T (p.Pro18Ser)
NM_020070.4(IGLL1):c.536T>G (p.Leu179Arg)
NM_020070.4(IGLL1):c.53C>T (p.Pro18Leu) rs374187217
NM_020070.4(IGLL1):c.542T>C (p.Leu181Pro)
NM_020070.4(IGLL1):c.546G>A (p.Thr182=) rs146592375
NM_020070.4(IGLL1):c.551dup (p.Gln185fs)
NM_020070.4(IGLL1):c.553C>T (p.Gln185Ter) rs1569069105
NM_020070.4(IGLL1):c.559A>C (p.Arg187=)
NM_020070.4(IGLL1):c.55A>G (p.Asn19Asp)
NM_020070.4(IGLL1):c.560G>A (p.Arg187Lys)
NM_020070.4(IGLL1):c.584A>G (p.Gln195Arg)
NM_020070.4(IGLL1):c.590T>G (p.Met197Arg) rs772660059
NM_020070.4(IGLL1):c.594C>A (p.His198Gln) rs1064418
NM_020070.4(IGLL1):c.595G>A (p.Glu199Lys)
NM_020070.4(IGLL1):c.5G>A (p.Arg2Lys)
NM_020070.4(IGLL1):c.606C>G (p.Thr202=)
NM_020070.4(IGLL1):c.606_609delinsTGCA (p.Val203Ala) rs1569069031
NM_020070.4(IGLL1):c.608T>C (p.Val203Ala) rs941686597
NM_020070.4(IGLL1):c.609G>A (p.Val203=) rs747588803
NM_020070.4(IGLL1):c.619G>A (p.Val207Met) rs779159751
NM_020070.4(IGLL1):c.624C>T (p.Ala208=)
NM_020070.4(IGLL1):c.633A>G (p.Glu211=)
NM_020070.4(IGLL1):c.68G>A (p.Arg23His)
NM_020070.4(IGLL1):c.74C>A (p.Pro25His)
NM_020070.4(IGLL1):c.82C>T (p.Leu28=)
NM_020070.4(IGLL1):c.97G>A (p.Val33Met) rs116760479

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