ClinVar Miner

List of variants in gene IGLL1 reported as benign for agammaglobulinemia

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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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.393T>C (p.Ala131=) rs1064424 0.00182
NM_020070.4(IGLL1):c.207-9T>A rs201800585 0.00137
NM_020070.4(IGLL1):c.423T>C (p.Tyr141=) rs143849749 0.00055
NM_020070.4(IGLL1):c.492G>A (p.Thr164=) rs148071349 0.00013
NM_020070.4(IGLL1):c.254G>T (p.Arg85Leu) rs200178386
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.485T>A (p.Met162Lys) rs111903752
NM_020070.4(IGLL1):c.485T>C (p.Met162Thr) rs111903752
NM_020070.4(IGLL1):c.520G>A (p.Ala174Thr) rs199718215
NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met) rs1555903974
NM_020070.4(IGLL1):c.624C>T (p.Ala208=)
NM_020070.4(IGLL1):c.97G>A (p.Val33Met) rs116760479

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