ClinVar Miner

List of variants reported as benign for familial dysfibrinogenemia

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_005141.5(FGB):c.*619T>C rs2227439 0.90974
NM_021871.3(FGA):c.-58A>G rs2070011 0.65406
NM_021871.4(FGA):c.991A>G (p.Thr331Ala) rs6050 0.29452
NC_000004.12:g.154604124G>A rs2066865 0.26358
NM_005141.5(FGB):c.*1550C>T rs1044291 0.25394
NM_005141.5(FGB):c.*422A>C rs2227421 0.24213
NM_005141.5(FGB):c.567C>T (p.Ser189=) rs6056 0.15358
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) rs4220 0.15295
NM_005141.5(FGB):c.*1369G>A rs2227426 0.14191
NM_005141.5(FGB):c.*447T>C rs2227423 0.14132
NM_005141.5(FGB):c.1125C>T (p.Tyr375=) rs4681 0.14119
NM_005141.5(FGB):c.*1617A>T rs2059503 0.14026
NM_005141.5(FGB):c.*1517T>C rs2059502 0.14019
NM_005141.5(FGB):c.*443G>A rs2227422 0.02149
NM_005141.5(FGB):c.843G>T (p.Val281=) rs6058 0.02007
NM_021870.3(FGG):c.418T>C (p.Tyr140His) rs2066870 0.01747
NM_005141.5(FGB):c.*1752G>T rs116381809 0.01354
NM_005141.5(FGB):c.318T>C (p.Cys106=) rs6055 0.01256
NM_005141.5(FGB):c.291C>T (p.His97=) rs6060 0.01247
NM_005141.5(FGB):c.*1070G>C rs2227425 0.00717
NM_005141.5(FGB):c.1239C>T (p.Asp413=) rs148950857 0.00364
NM_021871.4(FGA):c.16A>G (p.Ile6Val) rs2070025 0.00350
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) rs6063 0.00339
NM_021871.4(FGA):c.181-14C>T rs190703077 0.00240
NM_021871.4(FGA):c.300G>A (p.Lys100=) rs112877216 0.00220
NM_021870.3(FGG):c.309T>C (p.Asn103=) rs138916334 0.00002
NM_021871.4(FGA):c.904C>G (p.Pro302Ala) rs200203992 0.00002
NM_005141.5(FGB):c.*373G>A rs2227420
NM_005141.5(FGB):c.*834del rs57313183
NM_005141.5(FGB):c.*918C>G rs2227424
NM_005141.5(FGB):c.959-13_959-10del rs140114081

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