ClinVar Miner

List of variants studied for congenital fibrinogen deficiency by Biochemistry Laboratory, Bechir Hamza Children's Hospital

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005141.5(FGB):c.679T>C (p.Cys227Arg) rs1578783532
NM_005141.5(FGB):c.974G>C (p.Gly325Ala) rs1578785111
NM_021870.3(FGG):c.666+23T>A rs1578810856
NM_021871.4(FGA):c.811C>T (p.Arg271Ter) rs1578796476

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