ClinVar Miner

List of variants reported for Hypofibrinogenemia by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) rs6063 0.00339
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_021871.4(FGA):c.510+1G>T rs146387238 0.00009
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr) rs78257946 0.00004
NM_005141.5(FGB):c.139C>T (p.Arg47Ter) rs121909625 0.00003
NM_000508.3(FGA):c.112A>G (p.Arg38Gly) rs121909608 0.00001
NM_021870.2(FGG):c.902G>A (p.Arg301His) rs121913088 0.00001
NM_021870.3(FGG):c.677G>T (p.Gly226Val) rs1310452604 0.00001
NM_021871.4(FGA):c.104G>A (p.Arg35His) rs121909607 0.00001
NM_005141.4(FGB):c.130C>T (p.Arg44Cys) rs121909616
NM_005141.4(FGB):c.586C>T (p.Arg196Cys) rs121909623
NM_005141.5(FGB):c.959G>A (p.Gly320Asp) rs1578785100
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_021870.3(FGG):c.622T>C (p.Cys208Arg) rs1578810954
NM_021870.3(FGG):c.78+5G>A rs587776837
NM_021870.3(FGG):c.952G>A (p.Gly318Ser) rs267606810
NM_021870.3(FGG):c.963del (p.Phe321fs) rs1414035000
NM_021871.4(FGA):c.103C>A (p.Arg35Ser) rs121909606
NM_021871.4(FGA):c.104G>C (p.Arg35Pro) rs121909607
NM_021871.4(FGA):c.117del (p.Val40fs) rs762964798
NM_021871.4(FGA):c.1472G>A (p.Cys491Tyr) rs1578795296
NM_021871.4(FGA):c.922C>T (p.Arg308Ter) rs776817952
NM_021871.4(FGA):c.945del (p.Gly316fs) rs1214070111

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