ClinVar Miner

List of variants reported as uncertain significance for congenital afibrinogenemia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 95
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021870.3(FGG):c.*488C>T rs191297318 0.00453
NM_021870.3(FGG):c.*496A>C rs187316301 0.00268
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_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.*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.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_021871.4(FGA):c.616C>G (p.Gln206Glu) rs560732073 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_005141.5(FGB):c.*1105A>G rs542187592 0.00012
NM_005141.5(FGB):c.200G>C (p.Ser67Thr) rs371842822 0.00011
NM_021871.4(FGA):c.*50T>G rs369606098 0.00010
NM_005141.5(FGB):c.*1372T>A rs371670019 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_021870.3(FGG):c.19C>T (p.Pro7Ser) rs374845868 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_005141.5(FGB):c.752C>T (p.Thr251Ile) rs776988939 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.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.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_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.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_021870.3(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.1912G>A (p.Gly638Arg) rs771429165 0.00001
NM_021871.4(FGA):c.346G>A (p.Asp116Asn) rs886059153 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
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.*496G>A rs557290052
NM_005141.5(FGB):c.*801A>G rs1578787077
NM_005141.5(FGB):c.*835del rs768727295
NM_005141.5(FGB):c.114+11del rs779228767
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_021870.3(FGG):c.1237A>G (p.Ile413Val) rs886059154
NM_021870.3(FGG):c.401G>A (p.Arg134Gln) rs764559342
NM_021871.4(FGA):c.*133G>A rs182736373
NM_021871.4(FGA):c.1207G>A (p.Ala403Thr) rs1730710209
NM_021871.4(FGA):c.614A>G (p.Glu205Gly) rs886059152
NM_021871.4(FGA):c.666A>T (p.Pro222=) rs886059151

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.