ClinVar Miner

List of variants in gene F7 reported as uncertain significance for congenital factor VII deficiency

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.740-10T>C rs3093266 0.00559
NM_019616.4(F7):c.739+7A>G rs519650 0.00249
NM_019616.4(F7):c.*410C>T rs139474305 0.00218
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.*605G>A rs144204350 0.00144
NM_019616.4(F7):c.785G>A (p.Arg262Gln) rs77121822 0.00118
NM_019616.4(F7):c.*1359G>A rs548802710 0.00113
NM_019616.4(F7):c.1267G>A (p.Glu423Lys) rs3093248 0.00113
NM_019616.4(F7):c.*285G>A rs577927838 0.00107
NM_019616.4(F7):c.*71T>A rs143748941 0.00106
NM_019616.4(F7):c.*1385T>C rs561442830 0.00096
NM_019616.4(F7):c.*498C>T rs557431193 0.00070
NM_019616.4(F7):c.*499G>A rs575689457 0.00065
NM_019616.4(F7):c.586G>A (p.Val196Met) rs139309572 0.00063
NM_019616.4(F7):c.142C>T (p.Pro48Ser) rs373376565 0.00050
NM_019616.4(F7):c.*1475G>A rs3093258 0.00046
NM_019616.4(F7):c.*1614A>C rs577978392 0.00038
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_019616.4(F7):c.813G>A (p.Thr271=) rs148965964 0.00031
NM_019616.4(F7):c.*340T>C rs545497651 0.00029
NM_019616.4(F7):c.*550C>T rs529590090 0.00022
NM_019616.4(F7):c.*543A>G rs886049991 0.00021
NM_019616.4(F7):c.*1383C>T rs117025399 0.00019
NM_019616.4(F7):c.*894C>T rs181035432 0.00019
NM_019616.4(F7):c.930G>A (p.Thr310=) rs202240468 0.00019
NM_019616.4(F7):c.*938G>A rs778531585 0.00016
NM_019616.4(F7):c.*721A>G rs539255438 0.00012
NM_019616.4(F7):c.*541C>T rs1000315742 0.00008
NM_019616.4(F7):c.*991G>A rs3093254 0.00008
NM_019616.4(F7):c.781C>T (p.Arg261Trp) rs779589651 0.00008
NM_019616.4(F7):c.988G>A (p.Ala330Thr) rs3093267 0.00008
NM_019616.4(F7):c.*909C>T rs886049999 0.00007
NM_019616.4(F7):c.822G>A (p.Pro274=) rs566083695 0.00006
NM_019616.4(F7):c.911G>A (p.Arg304Gln) rs146698837 0.00006
NM_019616.4(F7):c.*582C>T rs886049993 0.00005
NM_019616.4(F7):c.*679A>C rs1287125003 0.00004
NM_019616.4(F7):c.*1054C>A rs546634569 0.00003
NM_019616.4(F7):c.*284C>T rs750831181 0.00003
NM_019616.4(F7):c.-27C>T rs886049985 0.00003
NM_019616.4(F7):c.*985G>A rs1368575987 0.00002
NM_019616.4(F7):c.929C>T (p.Thr310Met) rs200212201 0.00002
NM_019616.4(F7):c.940G>A (p.Val314Met) rs374305125 0.00002
NM_019616.4(F7):c.*1281G>A rs192084788 0.00001
NM_019616.4(F7):c.*275G>A rs886049988 0.00001
NM_019616.4(F7):c.103C>A (p.Arg35=) rs886049987 0.00001
NM_019616.4(F7):c.1316T>C (p.Leu439Pro) rs1370716721 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.481G>A (p.Asp161Asn) rs1258691292 0.00001
NM_019616.4(F7):c.517T>C (p.Cys173Arg) rs372577568 0.00001
NM_019616.4(F7):c.64+1016A>T rs886049986 0.00001
NM_019616.4(F7):c.844G>A (p.Ala282Thr) rs773627551 0.00001
NM_019616.4(F7):c.937T>C (p.Phe313Leu) rs762858015 0.00001
NM_019616.4(F7):c.*1057C>T rs141219406
NM_019616.4(F7):c.*1073A>T rs2036277962
NM_019616.4(F7):c.*1077del rs886050000
NM_019616.4(F7):c.*1364G>A rs1019352949
NM_019616.4(F7):c.*1500_*1503del rs539395699
NM_019616.4(F7):c.*294A>C rs886049989
NM_019616.4(F7):c.*425C>T rs886049990
NM_019616.4(F7):c.*561AT[1] rs886049992
NM_019616.4(F7):c.*628_*630del rs747160994
NM_019616.4(F7):c.*664G>A rs150239572
NM_019616.4(F7):c.*672CA[3] rs886049995
NM_019616.4(F7):c.*703AC[3] rs3093252
NM_019616.4(F7):c.*756_*770delinsCCA rs886049997
NM_019616.4(F7):c.*846CTTCA[1] rs886049998
NM_019616.4(F7):c.-48C>A rs549591993
NM_019616.4(F7):c.1145G>A (p.Ser382Asn)
NM_019616.4(F7):c.1216T>C (p.Cys406Arg)
NM_019616.4(F7):c.1221A>G (p.Ala407=) rs763731383
NM_019616.4(F7):c.1247C>T (p.Thr416Ile) rs2142234668
NM_019616.4(F7):c.1319G>T (p.Arg440Leu) rs372452455
NM_019616.4(F7):c.149C>G (p.Ser50Cys) rs546856641
NM_019616.4(F7):c.169G>C (p.Glu57Gln)
NM_019616.4(F7):c.196C>G (p.Arg66Gly)
NM_019616.4(F7):c.213C>G (p.Asp71Glu) rs761662200
NM_019616.4(F7):c.391A>C (p.Asn131His) rs2142224544
NM_019616.4(F7):c.408T>G (p.Cys136Trp) rs2142224651
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.499C>T (p.Pro167Ser) rs1479693459
NM_019616.4(F7):c.616-11C>A rs750680622
NM_019616.4(F7):c.616-7C>A rs751971986
NM_019616.4(F7):c.64+937C>T
NM_019616.4(F7):c.675G>T (p.Trp225Cys)
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.867_868insCA (p.Val290fs)
NM_019616.4(F7):c.893C>T (p.Pro298Leu)
NM_019616.4(F7):c.907G>A (p.Glu303Lys)

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