ClinVar Miner

List of variants reported as likely benign for congenital fibrinogen deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_005141.5(FGB):c.1113A>G (p.Ser371=) rs6057 0.00574
NM_021871.4(FGA):c.1542T>C (p.Pro514=) rs4766 0.00426
NM_021870.3(FGG):c.78+9G>A rs2066857 0.00345
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_021871.4(FGA):c.1366A>G (p.Thr456Ala) rs2070031 0.00262
NM_021871.4(FGA):c.181-14C>T rs190703077 0.00240
NM_021871.4(FGA):c.300G>A (p.Lys100=) rs112877216 0.00240
NM_021870.3(FGG):c.*535A>G rs146143405 0.00140
NM_005141.5(FGB):c.534G>C (p.Lys178Asn) rs201909029 0.00038
NM_021871.4(FGA):c.1199C>T (p.Ser400Phe) rs184635235 0.00031
NM_005141.5(FGB):c.510T>A (p.Asn170Lys) rs149963684 0.00011
NM_021870.3(FGG):c.274C>T (p.Leu92Phe) rs142286849 0.00009
NM_021871.4(FGA):c.1444G>A (p.Val482Met) rs139146037 0.00006

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