ClinVar Miner

List of variants in gene F7 studied for Congenital factor VII deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.533T>G (p.Ile178Ser) rs141219108 0.00205
NM_019616.4(F7):c.64+4C>T rs187128791 0.00178
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_019616.4(F7):c.785G>A (p.Arg262Gln) rs77121822 0.00118
NM_019616.4(F7):c.142C>T (p.Pro48Ser) rs373376565 0.00050
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_019616.4(F7):c.854G>A (p.Arg285His) rs121964929 0.00009
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271 0.00008
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360 0.00008
NM_019616.4(F7):c.781C>T (p.Arg261Trp) rs779589651 0.00008
NM_019616.4(F7):c.364+1G>A rs1056071555 0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931 0.00006
NM_019616.4(F7):c.911G>A (p.Arg304Gln) rs146698837 0.00006
NM_019616.4(F7):c.868G>A (p.Val290Met) rs201991361 0.00005
NM_019616.4(F7):c.403G>A (p.Gly135Ser) rs763458490 0.00004
NM_019616.4(F7):c.-27C>T rs886049985 0.00003
NM_019616.4(F7):c.961G>A (p.Gly321Ser) rs1250853566 0.00003
NM_019616.4(F7):c.400G>A (p.Gly134Ser) rs563972504 0.00002
NM_019616.4(F7):c.568C>T (p.Arg190Ter) rs756151764 0.00002
NM_000131.4(F7):c.-61T>G rs1367115848 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_019616.4(F7):c.1105G>A (p.Gly369Ser) rs190485816 0.00001
NM_019616.4(F7):c.217G>A (p.Glu73Lys) rs550453328 0.00001
NM_019616.4(F7):c.443G>A (p.Arg148His) rs375134790 0.00001
NM_019616.4(F7):c.505+78G>A rs764741909 0.00001
NM_019616.4(F7):c.517T>C (p.Cys173Arg) rs372577568 0.00001
NM_019616.4(F7):c.615+1G>T rs769452933 0.00001
NM_019616.4(F7):c.656C>A (p.Thr219Asn) rs1160146175 0.00001
NM_019616.4(F7):c.844G>A (p.Ala282Thr) rs773627551 0.00001
NM_000131.4(F7):c.-55C>T rs1418012389
NM_019616.4(F7):c.-48C>A rs549591993
NM_019616.4(F7):c.1058G>A (p.Arg353Gln)
NM_019616.4(F7):c.1093A>G (p.Met365Val)
NM_019616.4(F7):c.1099T>G (p.Cys367Gly) rs121964934
NM_019616.4(F7):c.1145G>A (p.Ser382Asn)
NM_019616.4(F7):c.1206G>A (p.Trp402Ter)
NM_019616.4(F7):c.1216T>C (p.Cys406Arg)
NM_019616.4(F7):c.1247C>T (p.Thr416Ile) rs2142234668
NM_019616.4(F7):c.1263C>G (p.Tyr421Ter) rs1293477494
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.145G>C (p.Gly49Arg) rs376384665
NM_019616.4(F7):c.149C>G (p.Ser50Cys) rs546856641
NM_019616.4(F7):c.154dup (p.Glu52fs)
NM_019616.4(F7):c.169G>C (p.Glu57Gln)
NM_019616.4(F7):c.175C>T (p.Gln59Ter)
NM_019616.4(F7):c.196C>G (p.Arg66Gly)
NM_019616.4(F7):c.196C>T (p.Arg66Trp)
NM_019616.4(F7):c.213C>G (p.Asp71Glu) rs761662200
NM_019616.4(F7):c.225+1G>C rs1566906827
NM_019616.4(F7):c.290G>A (p.Gly97Asp)
NM_019616.4(F7):c.364+14T>G
NM_019616.4(F7):c.442C>T (p.Arg148Cys)
NM_019616.4(F7):c.445T>C (p.Ser149Pro)
NM_019616.4(F7):c.483C>A (p.Asp161Glu) rs6040
NM_019616.4(F7):c.580G>C (p.Gly194Arg)
NM_019616.4(F7):c.605G>A (p.Cys202Tyr)
NM_019616.4(F7):c.64+1005G>A
NM_019616.4(F7):c.64+937C>T
NM_019616.4(F7):c.649G>C (p.Gly217Arg) rs2142229154
NM_019616.4(F7):c.675G>T (p.Trp225Cys)
NM_019616.4(F7):c.686C>T (p.Ala229Val)
NM_019616.4(F7):c.694T>C (p.Cys232Arg)
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_019616.4(F7):c.739+7_739+43del rs1309684522
NM_019616.4(F7):c.740-329G>A
NM_019616.4(F7):c.748G>A (p.Asp250Asn)
NM_019616.4(F7):c.783_799del (p.Arg262fs) rs786205091
NM_019616.4(F7):c.857T>C (p.Leu286Pro) rs2142232799
NM_019616.4(F7):c.867_868insCA (p.Val290fs)
NM_019616.4(F7):c.86C>A (p.Ala29Asp) rs2036074360
NM_019616.4(F7):c.871del (p.Val291fs) rs2142232898
NM_019616.4(F7):c.893C>T (p.Pro298Leu)
NM_019616.4(F7):c.895C>T (p.Leu299Phe)
NM_019616.4(F7):c.907G>A (p.Glu303Lys)
NM_019616.4(F7):c.974del (p.Leu325fs)
NM_019616.4(F7):c.[179G>T;190_191delinsTT]

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.