ClinVar Miner

List of variants in gene IGLL1 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_020070.4(IGLL1):c.350C>T (p.Thr117Ile) rs143780139 0.00213
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr) rs149986237 0.00115
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) rs139491925 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.458G>T (p.Gly153Val) rs138007109 0.00039
NM_020070.4(IGLL1):c.478G>A (p.Val160Met) rs138799296 0.00035
NM_020070.4(IGLL1):c.142A>G (p.Arg48Gly) rs555319123 0.00010
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.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.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.221G>A (p.Arg74His) rs368706509 0.00005
NM_020070.4(IGLL1):c.367T>C (p.Ser123Pro) rs752183941 0.00005
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.134C>T (p.Ser45Leu) rs758781859 0.00003
NM_020070.4(IGLL1):c.288T>G (p.His96Gln) rs766149395 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.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.322+4A>T rs753787644 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.545C>T (p.Thr182Met) rs761551186 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
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.119G>A (p.Arg40His)
NM_020070.4(IGLL1):c.119G>T (p.Arg40Leu)
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.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.220C>T (p.Arg74Cys)
NM_020070.4(IGLL1):c.232A>C (p.Thr78Pro) rs2123698257
NM_020070.4(IGLL1):c.238C>G (p.Pro80Ala) rs766027584
NM_020070.4(IGLL1):c.254G>A (p.Arg85Gln) 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.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>T (p.Thr95Met)
NM_020070.4(IGLL1):c.286C>T (p.His96Tyr)
NM_020070.4(IGLL1):c.321A>G (p.Leu107=)
NM_020070.4(IGLL1):c.322+3_322+6del rs1184765604
NM_020070.4(IGLL1):c.322+4A>G rs753787644
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.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.460A>T (p.Thr154Ser) rs1602287119
NM_020070.4(IGLL1):c.465del (p.Ile156fs)
NM_020070.4(IGLL1):c.46C>T (p.Pro16Ser)
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.520G>T (p.Ala174Ser) rs199718215
NM_020070.4(IGLL1):c.521delinsAT (p.Ala174fs)
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.551dup (p.Gln185fs)
NM_020070.4(IGLL1):c.553C>T (p.Gln185Ter) rs1569069105
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.606_609delinsTGCA (p.Val203Ala) rs1569069031
NM_020070.4(IGLL1):c.608T>C (p.Val203Ala) rs941686597
NM_020070.4(IGLL1):c.619G>A (p.Val207Met) rs779159751
NM_020070.4(IGLL1):c.68G>A (p.Arg23His)
NM_020070.4(IGLL1):c.74C>A (p.Pro25His)

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