ClinVar Miner

List of variants in gene IGLL1 reported as uncertain significance for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NC_000022.10:g.(?_23915433)_(23922397_?)dup
NC_000022.10:g.(?_23917134)_(23922397_?)dup
NC_000022.11:g.(?_23574947)_(23580210_?)del
NM_020070.4(IGLL1):c.118C>T (p.Arg40Cys)
NM_020070.4(IGLL1):c.178C>G (p.Arg60Gly)
NM_020070.4(IGLL1):c.197G>A (p.Arg66Gln) rs569884568
NM_020070.4(IGLL1):c.197G>T (p.Arg66Leu)
NM_020070.4(IGLL1):c.21G>C (p.Gln7His) rs1044209410
NM_020070.4(IGLL1):c.221G>A (p.Arg74His)
NM_020070.4(IGLL1):c.254G>A (p.Arg85Gln) rs200178386
NM_020070.4(IGLL1):c.258del (p.Gln88fs) rs532338576
NM_020070.4(IGLL1):c.301G>A (p.Gly101Arg)
NM_020070.4(IGLL1):c.316G>A (p.Val106Ile)
NM_020070.4(IGLL1):c.322+3_322+6del rs1184765604
NM_020070.4(IGLL1):c.341C>T (p.Pro114Leu)
NM_020070.4(IGLL1):c.362C>T (p.Pro121Leu) rs746843426
NM_020070.4(IGLL1):c.368C>G (p.Ser123Cys)
NM_020070.4(IGLL1):c.377T>C (p.Leu126Pro) rs142959335
NM_020070.4(IGLL1):c.385A>C (p.Asn129His)
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) rs138007109
NM_020070.4(IGLL1):c.460A>T (p.Thr154Ser)
NM_020070.4(IGLL1):c.478G>A (p.Val160Met)
NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met) rs1555903974
NM_020070.4(IGLL1):c.521C>T (p.Ala174Val) rs1064419
NM_020070.4(IGLL1):c.527G>A (p.Ser176Asn)
NM_020070.4(IGLL1):c.553C>T (p.Gln185Ter) rs1569069105
NM_020070.4(IGLL1):c.590T>C (p.Met197Thr)
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

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