ClinVar Miner

List of variants in gene IGLL1 studied for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP
NC_000022.10:g.(?_23915433)_(23922397_?)dup
NC_000022.10:g.(?_23917134)_(23922397_?)del
NC_000022.10:g.(?_23917134)_(23922397_?)dup
NM_020070.4(IGLL1):c.197G>A (p.Arg66Gln)
NM_020070.4(IGLL1):c.207-9T>A rs201800585
NM_020070.4(IGLL1):c.21G>C (p.Gln7His)
NM_020070.4(IGLL1):c.254G>A (p.Arg85Gln)
NM_020070.4(IGLL1):c.258del (p.Gln88fs) rs532338576
NM_020070.4(IGLL1):c.276C>T (p.Asn92=) rs116275804
NM_020070.4(IGLL1):c.284C>A (p.Thr95Lys) rs116041505
NM_020070.4(IGLL1):c.300C>T (p.Ser100=) rs115303391
NM_020070.4(IGLL1):c.301G>A (p.Gly101Arg)
NM_020070.4(IGLL1):c.309G>A (p.Gln103=) rs114285337
NM_020070.4(IGLL1):c.316G>A (p.Val106Ile)
NM_020070.4(IGLL1):c.322+3_322+6del rs1184765604
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr) rs149986237
NM_020070.4(IGLL1):c.336C>T (p.Ala112=) rs140494226
NM_020070.4(IGLL1):c.362C>T (p.Pro121Leu)
NM_020070.4(IGLL1):c.368C>G (p.Ser123Cys)
NM_020070.4(IGLL1):c.377T>C (p.Leu126Pro)
NM_020070.4(IGLL1):c.385A>C (p.Asn129His)
NM_020070.4(IGLL1):c.393T>C (p.Ala131=) rs1064424
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) rs1064422
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) rs112775194
NM_020070.4(IGLL1):c.458G>T (p.Gly153Val)
NM_020070.4(IGLL1):c.460A>T (p.Thr154Ser)
NM_020070.4(IGLL1):c.464C>T (p.Pro155Leu) rs145176864
NM_020070.4(IGLL1):c.475G>A (p.Gly159Ser) rs139571703
NM_020070.4(IGLL1):c.478G>A (p.Val160Met)
NM_020070.4(IGLL1):c.485T>A (p.Met162Lys) rs111903752
NM_020070.4(IGLL1):c.507C>T (p.Ser169=) rs74519217
NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met) rs1555903974
NM_020070.4(IGLL1):c.521C>T (p.Ala174Val)
NM_020070.4(IGLL1):c.527G>A (p.Ser176Asn)
NM_020070.4(IGLL1):c.549C>T (p.Pro183=) rs75088277
NM_020070.4(IGLL1):c.553C>T (p.Gln185Ter) rs1569069105
NM_020070.4(IGLL1):c.566G>A (p.Arg189His) rs8138122
NM_020070.4(IGLL1):c.606_609delinsTGCA (p.Val203Ala) rs1569069031
NM_020070.4(IGLL1):c.607G>A (p.Val203Met) rs771552908
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) rs139491925
NM_020070.4(IGLL1):c.618G>A (p.Thr206=) rs147356355
NM_020070.4(IGLL1):c.64C>T (p.Gln22Ter) rs74315491

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.