ClinVar Miner

List of variants studied for Congenital factor VII deficiency

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Total variants: 76
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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]

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