ClinVar Miner

List of variants in gene FGB studied for Familial dysfibrinogenemia

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Total variants: 10
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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.749A>G (p.Glu250Gly) rs759800033 0.00003
NM_005141.5(FGB):c.1330G>A (p.Gly444Ser)
NM_005141.5(FGB):c.284G>A (p.Cys95Tyr) rs2110761933
NM_005141.5(FGB):c.419C>A (p.Thr140Asn)
NM_005141.5(FGB):c.490+1G>C rs111502670
NM_005141.5(FGB):c.498_512del (p.Asn167_Glu171del)
NM_005141.5(FGB):c.569A>G (p.Asn190Ser)
NM_005141.5(FGB):c.679T>C (p.Cys227Arg) rs1578783532
NM_005141.5(FGB):c.811G>T (p.Asp271Tyr) rs913936601

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