ClinVar Miner

List of variants in gene FGB reported as pathogenic for congenital afibrinogenemia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_005141.5(FGB):c.139C>T (p.Arg47Ter) rs121909625 0.00003
NC_000004.11:g.(?_155484162)_(155493960_?)del
NM_005141.5(FGB):c.1148T>G (p.Leu383Arg) rs121909621
NM_005141.5(FGB):c.1244+1G>T rs606231224
NM_005141.5(FGB):c.1289G>A (p.Gly430Asp) rs121909622
NM_005141.5(FGB):c.605T>A (p.Leu202Gln) rs121909624
NM_005141.5(FGB):c.958+13C>T rs606231223
NM_005141.5(FGB):c.974G>C (p.Gly325Ala) rs1578785111

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