ClinVar Miner

List of variants studied for congenital afibrinogenemia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 275
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HGVS dbSNP gnomAD frequency
NM_005141.5(FGB):c.*619T>C rs2227439 0.91129
NM_021871.3(FGA):c.-58A>G rs2070011 0.65406
NM_021871.4(FGA):c.991A>G (p.Thr331Ala) rs6050 0.29256
NM_000509.5(FGG):c.*216C>T 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 0.14032
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_021870.3(FGG):c.418T>C (p.Tyr140His) rs2066870 0.01852
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
FIBRINOGEN PARIS 1 rs2066862 0.00546
NM_021870.3(FGG):c.*488C>T rs191297318 0.00453
NM_021871.4(FGA):c.1542T>C (p.Pro514=) rs4766 0.00426
NM_005141.5(FGB):c.1239C>T (p.Asp413=) rs148950857 0.00364
NM_021870.3(FGG):c.78+9G>A rs2066857 0.00345
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_005141.5(FGB):c.682A>G (p.Thr228Ala) rs149599496 0.00272
NM_021870.3(FGG):c.*496A>C rs187316301 0.00268
NM_021871.4(FGA):c.1366A>G (p.Thr456Ala) rs2070031 0.00262
NM_021871.4(FGA):c.16A>G (p.Ile6Val) rs2070025 0.00250
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.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_021871.4(FGA):c.780G>A (p.Glu260=) rs145563362 0.00167
NM_005141.5(FGB):c.*846T>G rs541828079 0.00166
NM_005141.5(FGB):c.*233G>T rs539731011 0.00154
NM_021870.3(FGG):c.*535A>G rs146143405 0.00140
NM_005141.5(FGB):c.298C>T (p.Pro100Ser) rs2227434 0.00134
NM_021870.3(FGG):c.*500C>T rs183036893 0.00103
NM_005141.5(FGB):c.115-12C>T rs187641148 0.00058
NM_005141.5(FGB):c.*450T>A rs183181144 0.00053
NM_021870.3(FGG):c.140C>T (p.Thr47Ile) rs138511699 0.00050
NM_021871.4(FGA):c.1417G>A (p.Asp473Asn) rs200378626 0.00048
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_021870.3(FGG):c.124G>A (p.Gly42Ser) rs202132393 0.00034
NM_005141.5(FGB):c.*1671C>T rs765773409 0.00032
NM_021871.4(FGA):c.1199C>T (p.Ser400Phe) rs184635235 0.00031
NM_021871.4(FGA):c.244A>C (p.Thr82Pro) rs199554805 0.00031
NM_005141.5(FGB):c.*1771C>T rs776780011 0.00026
NM_005141.5(FGB):c.*592G>A rs376470048 0.00019
NM_021870.3(FGG):c.318C>T (p.Asp106=) rs150242757 0.00016
NM_021870.3(FGG):c.1258A>G (p.Ile420Val) rs374917187 0.00015
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_021871.4(FGA):c.*50T>G rs369606098 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_021870.3(FGG):c.274C>T (p.Leu92Phe) rs142286849 0.00009
NM_021871.4(FGA):c.510+1G>T rs146387238 0.00009
NM_021871.4(FGA):c.616C>G (p.Gln206Glu) rs560732073 0.00009
NM_021870.3(FGG):c.620A>G (p.Tyr207Cys) rs775086103 0.00008
NM_021871.4(FGA):c.1072G>A (p.Gly358Arg) rs201105899 0.00007
NM_000509.5(FGG):c.-130G>T rs749800940 0.00006
NM_005141.5(FGB):c.*1444C>A rs886059145 0.00006
NM_021871.4(FGA):c.1444G>A (p.Val482Met) rs139146037 0.00006
NM_021871.4(FGA):c.1823G>C (p.Gly608Ala) rs370873387 0.00006
NM_005141.5(FGB):c.*304G>A rs901759260 0.00005
NM_000204.5(CFI):c.1532C>T (p.Ala511Val) rs760801046 0.00004
NM_005141.5(FGB):c.752C>T (p.Thr251Ile) rs776988939 0.00004
NM_021870.3(FGG):c.19C>T (p.Pro7Ser) rs374845868 0.00004
NM_021871.4(FGA):c.1838A>G (p.His613Arg) rs201686865 0.00004
NM_021871.4(FGA):c.765G>A (p.Pro255=) rs779582722 0.00004
NM_021871.4(FGA):c.923G>A (p.Arg308Gln) rs760992799 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_021870.3(FGG):c.1285G>T (p.Gly429Trp) rs145938787 0.00003
NM_021871.4(FGA):c.1718G>A (p.Arg573His) rs78506343 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_021870.3(FGG):c.309T>C (p.Asn103=) rs138916334 0.00002
NM_021870.3(FGG):c.683T>C (p.Val228Ala) rs757702704 0.00002
NM_021871.4(FGA):c.1918C>G (p.Pro640Ala) rs199571440 0.00002
NM_021871.4(FGA):c.450G>A (p.Gln150=) rs368446857 0.00002
NM_021871.4(FGA):c.502C>T (p.Arg168Ter) rs755117226 0.00002
NM_021871.4(FGA):c.8C>T (p.Ser3Phe) rs771156473 0.00002
NM_021871.4(FGA):c.904C>G (p.Pro302Ala) rs200203992 0.00002
NM_000508.3(FGA):c.92G>T (p.Gly31Val) rs121909605 0.00001
NM_000508.5(FGA):c.2527T>C (p.Trp843Arg) rs1280924091 0.00001
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
NM_021870.2(FGG):c.902G>A (p.Arg301His) rs121913088 0.00001
NM_021870.3(FGG):c.*494A>G rs1731056413 0.00001
NM_021870.3(FGG):c.1125C>T (p.Tyr375=) rs766524002 0.00001
NM_021870.3(FGG):c.502A>G (p.Thr168Ala) rs141559764 0.00001
NM_021870.3(FGG):c.667-10G>C rs886059155 0.00001
NM_021871.4(FGA):c.1025G>A (p.Gly342Glu) rs774664670 0.00001
NM_021871.4(FGA):c.104G>A (p.Arg35His) rs121909607 0.00001
NM_021871.4(FGA):c.1463G>A (p.Gly488Asp) rs1382669489 0.00001
NM_021871.4(FGA):c.1470C>G (p.Asp490Glu) rs1335171406 0.00001
NM_021871.4(FGA):c.1560C>T (p.Phe520=) rs778304190 0.00001
NM_021871.4(FGA):c.1634A>T (p.Glu545Val) rs121909612 0.00001
NM_021871.4(FGA):c.1912G>A (p.Gly638Arg) rs771429165 0.00001
NM_021871.4(FGA):c.1915A>G (p.Lys639Glu) rs1424019951 0.00001
NM_021871.4(FGA):c.346G>A (p.Asp116Asn) rs886059153 0.00001
NM_021871.4(FGA):c.364+1G>A rs778779380 0.00001
NM_021871.4(FGA):c.532C>T (p.Arg178Ter) rs140911890 0.00001
NM_021871.4(FGA):c.822C>T (p.Ser274=) rs886059150 0.00001
NM_021871.4(FGA):c.919A>G (p.Asn307Asp) rs750564329 0.00001
NC_000004.11:g.(?_155484162)_(155493960_?)del
NC_000004.12:g.(154580323_154580329)_(154590210_154590216)del
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys) rs121909613
NM_000508.5(FGA):c.2021T>C (p.Leu674Ser) rs2110806407
NM_000508.5(FGA):c.2024T>C (p.Ile675Thr) rs2110806390
NM_000508.5(FGA):c.2024T>G (p.Ile675Ser) rs2110806390
NM_000508.5(FGA):c.2128G>A (p.Gly710Ser) rs2110806103
NM_000508.5(FGA):c.2155del (p.Gln719fs) rs2110806028
NM_000508.5(FGA):c.2350C>T (p.Gln784Ter) rs148824832
NM_000508.5(FGA):c.2372A>T (p.Asp791Val) rs1479874554
NM_000509.5(FGG):c.-53A>G rs886059156
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.1214T>G (p.Phe405Cys)
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.221G>T (p.Arg74Leu)
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
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_021870.3(FGG):c.1022G>A (p.Trp341Ter) rs1553965519
NM_021870.3(FGG):c.1190C>T (p.Thr397Ile) rs1731071910
NM_021870.3(FGG):c.1202G>A (p.Arg401Gln) rs2110838894
NM_021870.3(FGG):c.1237A>G (p.Ile413Val) rs886059154
NM_021870.3(FGG):c.1242del (p.Phe415fs)
NM_021870.3(FGG):c.1300G>T (p.Val434Phe)
NM_021870.3(FGG):c.307+5G>A rs587776838
NM_021870.3(FGG):c.401G>A (p.Arg134Gln) rs764559342
NM_021870.3(FGG):c.606G>C (p.Gln202His) rs2110846559
NM_021870.3(FGG):c.666+23T>A rs1578810856
NM_021870.3(FGG):c.667-320A>T rs587776839
NM_021870.3(FGG):c.694A>G (p.Lys232Glu) rs2110844685
NM_021870.3(FGG):c.700T>C (p.Trp234Arg) rs2110844651
NM_021870.3(FGG):c.702G>T (p.Trp234Cys)
NM_021870.3(FGG):c.78+5G>A rs587776837
NM_021870.3(FGG):c.793C>T (p.Gln265Ter) rs771279321
NM_021871.4(FGA):c.*133G>A rs182736373
NM_021871.4(FGA):c.100G>A (p.Val34Met)
NM_021871.4(FGA):c.103C>G (p.Arg35Gly) rs121909606
NM_021871.4(FGA):c.1055del (p.Pro352fs) rs1299596156
NM_021871.4(FGA):c.1099C>T (p.Arg367Cys)
NM_021871.4(FGA):c.1102G>A (p.Gly368Arg)
NM_021871.4(FGA):c.1103G>A (p.Gly368Glu)
NM_021871.4(FGA):c.1106G>A (p.Ser369Asn)
NM_021871.4(FGA):c.1117T>C (p.Trp373Arg)
NM_021871.4(FGA):c.1169C>A (p.Ser390Tyr)
NM_021871.4(FGA):c.117del (p.Val40fs) rs762964798
NM_021871.4(FGA):c.1207G>A (p.Ala403Thr) rs1730710209
NM_021871.4(FGA):c.122A>T (p.Glu41Val)
NM_021871.4(FGA):c.1247T>C (p.Val416Ala)
NM_021871.4(FGA):c.124A>G (p.Arg42Gly)
NM_021871.4(FGA):c.1339G>C (p.Glu447Gln)
NM_021871.4(FGA):c.1339del (p.Glu447fs)
NM_021871.4(FGA):c.1367C>T (p.Thr456Ile)
NM_021871.4(FGA):c.1419T>A (p.Asp473Glu)
NM_021871.4(FGA):c.1426A>G (p.Lys476Glu)
NM_021871.4(FGA):c.1452del (p.Ser485fs)
NM_021871.4(FGA):c.1486G>T (p.Asp496Tyr) rs2110809573
NM_021871.4(FGA):c.14G>A (p.Arg5Lys)
NM_021871.4(FGA):c.1529G>A (p.Arg510His)
NM_021871.4(FGA):c.1541del (p.Pro514fs)
NM_021871.4(FGA):c.1553C>G (p.Ala518Gly)
NM_021871.4(FGA):c.1603C>T (p.Pro535Ser)
NM_021871.4(FGA):c.1631C>T (p.Thr544Ile)
NM_021871.4(FGA):c.1633G>A (p.Glu545Lys)
NM_021871.4(FGA):c.1643G>A (p.Gly548Asp)
NM_021871.4(FGA):c.164G>C (p.Cys55Ser)
NM_021871.4(FGA):c.1670C>G (p.Thr557Arg)
NM_021871.4(FGA):c.1673A>G (p.Lys558Arg)
NM_021871.4(FGA):c.1717C>G (p.Arg573Gly)
NM_021871.4(FGA):c.1736dup (p.Tyr579Ter)
NM_021871.4(FGA):c.1784C>T (p.Thr595Ile)
NM_021871.4(FGA):c.180G>A (p.Trp60Ter)
NM_021871.4(FGA):c.1827T>A (p.Ser609Arg)
NM_021871.4(FGA):c.1832C>T (p.Ala611Val)
NM_021871.4(FGA):c.1858A>G (p.Lys620Glu)
NM_021871.4(FGA):c.1868A>G (p.His623Arg)
NM_021871.4(FGA):c.1875A>C (p.Lys625Asn)
NM_021871.4(FGA):c.1925T>C (p.Leu642Pro)
NM_021871.4(FGA):c.1930C>G (p.Pro644Ala) rs1730682953
NM_021871.4(FGA):c.19G>A (p.Val7Ile)
NM_021871.4(FGA):c.214G>C (p.Gly72Arg)
NM_021871.4(FGA):c.23G>C (p.Cys8Ser)
NM_021871.4(FGA):c.248A>G (p.Asn83Ser)
NM_021871.4(FGA):c.294_296del (p.Asn99del)
NM_021871.4(FGA):c.295A>G (p.Asn99Asp)
NM_021871.4(FGA):c.364+5G>A rs891744509
NM_021871.4(FGA):c.40G>A (p.Val14Met)
NM_021871.4(FGA):c.40G>T (p.Val14Leu)
NM_021871.4(FGA):c.428G>A (p.Arg143His)
NM_021871.4(FGA):c.431_432del (p.Lys144fs) rs934668242
NM_021871.4(FGA):c.448C>T (p.Gln150Ter) rs763715993
NM_021871.4(FGA):c.473dup (p.Asn158fs)
NM_021871.4(FGA):c.510+13C>T
NM_021871.4(FGA):c.531C>G (p.Ile177Met)
NM_021871.4(FGA):c.533G>A (p.Arg178Gln)
NM_021871.4(FGA):c.569G>A (p.Arg190His)
NM_021871.4(FGA):c.607C>T (p.Gln203Ter)
NM_021871.4(FGA):c.614A>G (p.Glu205Gly) rs886059152
NM_021871.4(FGA):c.645T>C (p.Ser215=)
NM_021871.4(FGA):c.648A>G (p.Arg216=)
NM_021871.4(FGA):c.666A>T (p.Pro222=) rs886059151
NM_021871.4(FGA):c.688C>T (p.Pro230Ser)
NM_021871.4(FGA):c.696G>T (p.Leu232Phe)
NM_021871.4(FGA):c.711dup (p.Lys238Ter) rs606231225
NM_021871.4(FGA):c.713del (p.Lys238fs)
NM_021871.4(FGA):c.761T>C (p.Met254Thr)
NM_021871.4(FGA):c.784G>A (p.Glu262Lys)
NM_021871.4(FGA):c.804G>A (p.Glu268=)
NM_021871.4(FGA):c.811C>T (p.Arg271Ter) rs1578796476
NM_021871.4(FGA):c.829T>C (p.Tyr277His) rs1473392017
NM_021871.4(FGA):c.838G>A (p.Gly280Arg)
NM_021871.4(FGA):c.84A>T (p.Leu28=)
NM_021871.4(FGA):c.856C>G (p.Pro286Ala)
NM_021871.4(FGA):c.873T>G (p.Ser291Arg)
NM_021871.4(FGA):c.896G>A (p.Ser299Asn)
NM_021871.4(FGA):c.908G>A (p.Gly303Glu)
NM_021871.4(FGA):c.922C>T (p.Arg308Ter) rs776817952
NM_021871.4(FGA):c.974G>A (p.Ser325Asn)
NM_021871.4(FGA):c.97G>A (p.Gly33Ser)
NM_021871.4(FGA):c.99C>T (p.Gly33=)

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