ClinVar Miner

List of variants in gene F7 studied for blood coagulation disease

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 186
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HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.64+9G>A rs6039 0.15932
NM_019616.4(F7):c.459C>T (p.His153=) rs6042 0.12147
NM_019616.4(F7):c.64+983G>A rs3093238 0.01072
NM_019616.4(F7):c.219G>A (p.Glu73=) rs36208758 0.01020
NM_019616.4(F7):c.64+8C>T rs10482844 0.00989
NM_019616.4(F7):c.740-10T>C rs3093266 0.00559
NM_019616.4(F7):c.*620C>T rs151109093 0.00308
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.1104C>T (p.Ala368=) rs6044 0.00216
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.1025G>A (p.Arg342Gln) rs121964926 0.00118
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.*1614A>C rs577978392 0.00051
NM_019616.4(F7):c.142C>T (p.Pro48Ser) rs373376565 0.00050
NM_019616.4(F7):c.-30A>C rs539578931 0.00048
NM_019616.4(F7):c.*1475G>A rs3093258 0.00046
NM_019616.4(F7):c.483C>T (p.Asp161=) rs6040 0.00046
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 0.00024
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.854G>A (p.Arg285His) rs121964929 0.00009
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.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.988G>A (p.Ala330Thr) rs3093267 0.00008
NM_019616.4(F7):c.*1503C>T rs551279029 0.00007
NM_019616.4(F7):c.*284C>T rs750831181 0.00007
NM_019616.4(F7):c.*909C>T rs886049999 0.00007
NM_019616.4(F7):c.364+1G>A rs1056071555 0.00006
NM_019616.4(F7):c.64+941C>T rs189409610 0.00006
NM_019616.4(F7):c.822G>A (p.Pro274=) rs566083695 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.*582C>T rs886049993 0.00005
NM_019616.4(F7):c.868G>A (p.Val290Met) rs201991361 0.00005
NM_019616.4(F7):c.*679A>C rs1287125003 0.00004
NM_019616.4(F7):c.403G>A (p.Gly135Ser) rs763458490 0.00004
NM_019616.4(F7):c.*1054C>A rs546634569 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.1158T>G (p.His386Gln) rs121964936 0.00002
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_019616.4(F7):c.929C>T (p.Thr310Met) rs200212201 0.00002
NM_019616.4(F7):c.940G>A (p.Val314Met) rs374305125 0.00002
NC_000013.11:g.113105748C>G rs1263426144 0.00001
NM_000131.4(F7):c.-61T>G rs1367115848 0.00001
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.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_019616.4(F7):c.1105G>A (p.Gly369Ser) rs190485816 0.00001
NM_019616.4(F7):c.1219G>A (p.Ala407Thr) rs755377592 0.00001
NM_019616.4(F7):c.1316T>C (p.Leu439Pro) rs1370716721 0.00001
NM_019616.4(F7):c.152T>A (p.Leu51Gln) rs45572939 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.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.64+1016A>T rs886049986 0.00001
NM_019616.4(F7):c.656C>A (p.Thr219Asn) rs1160146175 0.00001
NM_019616.4(F7):c.739+5G>A rs746625213 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.961G>A (p.Gly321Ser) rs1250853566 0.00001
NM_000131.4(F7):c.-55C>T rs1418012389
NM_000131.4(F7):c.-60T>C
NM_000131.4(F7):c.-96C>A
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.1008G>A (p.Met336Ile)
NM_019616.4(F7):c.1043G>A (p.Cys348Tyr)
NM_019616.4(F7):c.1048C>T (p.Gln350Ter) rs1595080617
NM_019616.4(F7):c.1051C>T (p.Gln351Ter)
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.1157A>G (p.His386Arg)
NM_019616.4(F7):c.1174G>T (p.Gly392Cys)
NM_019616.4(F7):c.1190C>T (p.Thr397Met)
NM_019616.4(F7):c.1206G>A (p.Trp402Ter)
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.1263C>G (p.Tyr421Ter) rs1293477494
NM_019616.4(F7):c.1272G>A (p.Trp424Ter) rs2142234775
NM_019616.4(F7):c.1292C>T (p.Ser431Leu) rs1490539322
NM_019616.4(F7):c.1318C>T (p.Arg440Ter)
NM_019616.4(F7):c.1319G>T (p.Arg440Leu) rs372452455
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.178T>C (p.Cys60Arg)
NM_019616.4(F7):c.187G>A (p.Glu63Lys)
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.220A>G (p.Arg74Gly) rs2142212748
NM_019616.4(F7):c.224C>T (p.Thr75Met)
NM_019616.4(F7):c.225+1G>C rs1566906827
NM_019616.4(F7):c.283A>G (p.Asn95Asp) rs121964932
NM_019616.4(F7):c.290G>A (p.Gly97Asp)
NM_019616.4(F7):c.297C>A (p.Cys99Ter)
NM_019616.4(F7):c.364+14T>G
NM_019616.4(F7):c.364+1G>C rs1056071555
NM_019616.4(F7):c.38T>C (p.Leu13Pro) rs387906507
NM_019616.4(F7):c.391A>C (p.Asn131His) rs2142224544
NM_019616.4(F7):c.394G>T (p.Glu132Ter) rs146795869
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.562C>T (p.Gln188Ter) rs267606790
NM_019616.4(F7):c.580G>C (p.Gly194Arg)
NM_019616.4(F7):c.581G>A (p.Gly194Asp)
NM_019616.4(F7):c.605G>A (p.Cys202Tyr)
NM_019616.4(F7):c.616-11C>A rs750680622
NM_019616.4(F7):c.616-7C>A rs751971986
NM_019616.4(F7):c.64+1005G>A
NM_019616.4(F7):c.64+937C>T
NM_019616.4(F7):c.647G>A (p.Cys216Tyr) rs121964928
NM_019616.4(F7):c.649G>C (p.Gly217Arg) rs2142229154
NM_019616.4(F7):c.64G>A (p.Val22Ile)
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.737T>C (p.Leu246Pro) rs2142229513
NM_019616.4(F7):c.739+1G>A
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.751_765del (p.Leu251_Asp255del) rs757743255
NM_019616.4(F7):c.783_799del (p.Arg262fs) rs786205091
NM_019616.4(F7):c.80del (p.Glu27fs)
NM_019616.4(F7):c.84A>C (p.Glu28Asp) rs2142212240
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.917T>C (p.Phe306Ser) rs387906508
NM_019616.4(F7):c.974del (p.Leu325fs)
NM_019616.4(F7):c.[179G>T;190_191delinsTT]

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