ClinVar Miner

List of variants in gene FGB studied for Congenital afibrinogenemia

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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_005141.5(FGB):c.*619T>C rs2227439 0.91129
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 0.14032
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.*447T>C rs2227423 0.13969
NM_005141.5(FGB):c.1125C>T (p.Tyr375=) rs4681 0.13958
NM_005141.5(FGB):c.*443G>A rs2227422 0.02316
NM_005141.5(FGB):c.843G>T (p.Val281=) rs6058 0.02166
NM_005141.5(FGB):c.*1752G>T rs116381809 0.01354
NM_005141.5(FGB):c.318T>C (p.Cys106=) rs6055 0.01339
NM_005141.5(FGB):c.291C>T (p.His97=) rs6060 0.01330
NM_005141.5(FGB):c.*1070G>C rs2227425 0.00766
NM_005141.5(FGB):c.1113A>G (p.Ser371=) rs6057 0.00574
NM_005141.5(FGB):c.1239C>T (p.Asp413=) rs148950857 0.00364
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_005141.5(FGB):c.*846T>G rs541828079 0.00166
NM_005141.5(FGB):c.*233G>T rs539731011 0.00154
NM_005141.5(FGB):c.298C>T (p.Pro100Ser) rs2227434 0.00134
NM_005141.5(FGB):c.115-12C>T rs187641148 0.00058
NM_005141.5(FGB):c.*450T>A rs183181144 0.00053
NM_005141.5(FGB):c.1244+7G>A rs142937995 0.00038
NM_005141.5(FGB):c.534G>C (p.Lys178Asn) rs201909029 0.00038
NM_005141.5(FGB):c.*624C>T rs754198978 0.00034
NM_005141.5(FGB):c.*1671C>T rs765773409 0.00032
NM_005141.5(FGB):c.*1771C>T rs776780011 0.00026
NM_005141.5(FGB):c.*592G>A rs376470048 0.00019
NM_005141.5(FGB):c.*1687A>G rs992721102 0.00014
NM_005141.5(FGB):c.*1738G>A rs760784701 0.00014
NM_005141.5(FGB):c.*363A>G rs545671394 0.00013
NM_005141.5(FGB):c.*1105A>G rs542187592 0.00012
NM_005141.5(FGB):c.200G>C (p.Ser67Thr) rs371842822 0.00011
NM_005141.5(FGB):c.510T>A (p.Asn170Lys) rs149963684 0.00011
NM_005141.5(FGB):c.*1372T>A rs371670019 0.00009
NM_005141.5(FGB):c.*1444C>A rs886059145 0.00006
NM_005141.5(FGB):c.*304G>A rs901759260 0.00005
NM_005141.5(FGB):c.752C>T (p.Thr251Ile) rs776988939 0.00004
NM_005141.5(FGB):c.*1542T>C rs886059146 0.00003
NM_005141.5(FGB):c.*15A>G rs375561591 0.00003
NM_005141.5(FGB):c.*1867T>C rs886059148 0.00003
NM_005141.5(FGB):c.*303C>T rs886059142 0.00003
NM_005141.5(FGB):c.139C>T (p.Arg47Ter) rs121909625 0.00003
NM_005141.5(FGB):c.4A>G (p.Lys2Glu) rs6053 0.00003
NM_005141.5(FGB):c.749A>G (p.Glu250Gly) rs759800033 0.00003
NM_005141.5(FGB):c.*464C>T rs940820346 0.00002
NM_005141.5(FGB):c.*526C>T rs933339992 0.00002
NM_005141.5(FGB):c.251A>C (p.Lys84Thr) rs886059141 0.00002
NM_005141.5(FGB):c.*1019G>T rs1478189415 0.00001
NM_005141.5(FGB):c.*1892G>A rs765456260 0.00001
NM_005141.5(FGB):c.*36A>G rs758231685 0.00001
NM_005141.5(FGB):c.*427G>A rs1196345013 0.00001
NM_005141.5(FGB):c.-6_-5del rs757727864 0.00001
NM_005141.5(FGB):c.103G>A (p.Asp35Asn) rs747783086 0.00001
NM_005141.5(FGB):c.332A>G (p.Gln111Arg) rs758080375 0.00001
NM_005141.5(FGB):c.564T>C (p.Asn188=) rs759250713 0.00001
NM_005141.5(FGB):c.656A>G (p.Gln219Arg) rs778766319 0.00001
NM_005141.5(FGB):c.659T>C (p.Met220Thr) rs1363577874 0.00001
NM_005141.5(FGB):c.762G>A (p.Met254Ile) rs201536638 0.00001
NM_005141.5(FGB):c.80T>C (p.Leu27Pro) rs1442627097 0.00001
NC_000004.11:g.(?_155484162)_(155493960_?)del
NM_005141.5(FGB):c.*1204T>C rs1447745807
NM_005141.5(FGB):c.*1252A>C rs1730444171
NM_005141.5(FGB):c.*1409C>A rs886059144
NM_005141.5(FGB):c.*1544T>C rs886059147
NM_005141.5(FGB):c.*1639T>C rs1026178982
NM_005141.5(FGB):c.*1998A>G rs886059149
NM_005141.5(FGB):c.*277A>G rs1466304617
NM_005141.5(FGB):c.*361A>T rs886059143
NM_005141.5(FGB):c.*373G>A rs2227420
NM_005141.5(FGB):c.*496G>A rs557290052
NM_005141.5(FGB):c.*801A>G rs1578787077
NM_005141.5(FGB):c.*834del rs57313183
NM_005141.5(FGB):c.*835del rs768727295
NM_005141.5(FGB):c.*918C>G rs2227424
NM_005141.5(FGB):c.114+11del rs779228767
NM_005141.5(FGB):c.1148T>G (p.Leu383Arg) rs121909621
NM_005141.5(FGB):c.1244+1G>T rs606231224
NM_005141.5(FGB):c.1289G>A (p.Gly430Asp) rs121909622
NM_005141.5(FGB):c.1292G>T (p.Gly431Val) rs779328318
NM_005141.5(FGB):c.169C>T (p.Pro57Ser) rs971404907
NM_005141.5(FGB):c.210C>T (p.Gly70=) rs933834957
NM_005141.5(FGB):c.254T>C (p.Val85Ala) rs775809959
NM_005141.5(FGB):c.506T>A (p.Val169Asp) rs2110768107
NM_005141.5(FGB):c.605T>A (p.Leu202Gln) rs121909624
NM_005141.5(FGB):c.691T>C (p.Cys231Arg) rs1730226269
NM_005141.5(FGB):c.946T>C (p.Cys316Arg)
NM_005141.5(FGB):c.958+13C>T rs606231223
NM_005141.5(FGB):c.959-13_959-10del rs140114081
NM_005141.5(FGB):c.974G>C (p.Gly325Ala) rs1578785111

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