ClinVar Miner

List of variants in gene F9 reported as pathogenic for coagulation protein disease

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 106
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HGVS dbSNP
F9, 1-BP DEL, ASP85FS
F9, 17747G-A
F9, 17747G-C
F9, ALU INSERTION, EX5
F9, ARG-1SER
F9, ARG-4GLN
F9, ARG-4TRP
F9, EX1-3DEL
F9, EX1-8DEL
F9, EX1DEL
F9, EX2-8DEL
F9, EX4-5DEL
F9, EX4DEL
F9, EX4INS
F9, EX5-8DEL
F9, EX51INS
F9, EX7DEL
F9, GLU7ASP
F9, GLY367ARG
F9, IVS3DS, T-G
F9, IVS4, 4442-BP DEL
F9, IVS6DS, G-T
F9, IVS7AS, G-A
F9, PHE378LEU
F9, TRP194TER
F9, TRP215TER
F9, TRP310TER
NC_000023.10:g.(?_138612860)_(138645598_?)del
NC_000023.10:g.(?_138612918)_(138644235_?)del
NM_000133.3(F9):c.*1157A>G
NM_000133.3(F9):c.-35G>A
NM_000133.3(F9):c.1009G>A (p.Ala337Thr)
NM_000133.3(F9):c.1009G>C (p.Ala337Pro) rs137852253
NM_000133.3(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.3(F9):c.1031T>C (p.Ile344Thr) rs387906482
NM_000133.3(F9):c.1058T>C (p.Val353Ala) rs137852255
NM_000133.3(F9):c.1064G>T (p.Gly355Val) rs137852256
NM_000133.3(F9):c.1069G>A (p.Gly357Arg) rs137852257
NM_000133.3(F9):c.1070G>A (p.Gly357Glu) rs137852275
NM_000133.3(F9):c.1088G>T (p.Gly363Val) rs387906479
NM_000133.3(F9):c.1120G>T (p.Val374Phe) rs137852271
NM_000133.3(F9):c.1135C>T (p.Arg379Ter) rs137852258
NM_000133.3(F9):c.1136G>A (p.Arg379Gln) rs137852259
NM_000133.3(F9):c.1144T>C (p.Cys382Arg) rs137852260
NM_000133.3(F9):c.1150C>T (p.Arg384Ter) rs137852261
NM_000133.3(F9):c.1151G>C (p.Arg384Pro) rs137852283
NM_000133.3(F9):c.1151G>T (p.Arg384Leu) rs137852283
NM_000133.3(F9):c.1180A>G (p.Met394Val) rs137852262
NM_000133.3(F9):c.1187G>C (p.Cys396Ser) rs137852273
NM_000133.3(F9):c.1189G>C (p.Ala397Pro) rs137852281
NM_000133.3(F9):c.1217C>T (p.Ser406Leu) rs137852263
NM_000133.3(F9):c.1228G>C (p.Asp410His) rs137852278
NM_000133.3(F9):c.1231A>G (p.Ser411Gly) rs137852277
NM_000133.3(F9):c.1232G>T (p.Ser411Ile) rs137852276
NM_000133.3(F9):c.1240C>A (p.Pro414Thr) rs137852265
NM_000133.3(F9):c.1256T>A (p.Val419Glu) rs137852280
NM_000133.3(F9):c.1307C>A (p.Ala436Glu) rs137852266
NM_000133.3(F9):c.1307C>T (p.Ala436Val) rs137852266
NM_000133.3(F9):c.1324G>A (p.Gly442Arg) rs137852267
NM_000133.3(F9):c.1328T>C (p.Ile443Thr) rs137852268
NM_000133.3(F9):c.1357T>C (p.Trp453Arg) rs137852269
NM_000133.3(F9):c.1369A>T (p.Lys457Ter) rs137852270
NM_000133.3(F9):c.169C>T (p.Gln57Ter) rs137852223
NM_000133.3(F9):c.218A>T (p.Glu73Val) rs137852226
NM_000133.3(F9):c.223C>T (p.Arg75Ter) rs137852227
NM_000133.3(F9):c.224G>A (p.Arg75Gln) rs137852228
NM_000133.3(F9):c.237A>C (p.Glu79Asp) rs137852229
NM_000133.3(F9):c.253-1G>C rs1434866164
NM_000133.3(F9):c.277+2T>C rs587776735
NM_000133.3(F9):c.278-3A>G rs398122990
NM_000133.3(F9):c.278A>G (p.Asp93Gly) rs137852230
NM_000133.3(F9):c.287A>C (p.Gln96Pro) rs137852231
NM_000133.3(F9):c.301C>G (p.Pro101Ala) rs137852232
NM_000133.3(F9):c.316G>A (p.Gly106Ser) rs137852233
NM_000133.3(F9):c.31T>A (p.Ser11Thr) rs387906480
NM_000133.3(F9):c.328G>A (p.Asp110Asn) rs137852274
NM_000133.3(F9):c.329A>G (p.Asp110Gly) rs137852234
NM_000133.3(F9):c.407T>C (p.Ile136Thr)
NM_000133.3(F9):c.479G>C (p.Gly160Ala) rs137852235
NM_000133.3(F9):c.484C>T (p.Arg162Ter) rs137852272
NM_000133.3(F9):c.496A>T (p.Asn166Tyr) rs137852236
NM_000133.3(F9):c.521-35_723+84del
NM_000133.3(F9):c.52T>C (p.Cys18Arg) rs387906474
NM_000133.3(F9):c.538_539AG[1] (p.Arg180fs) rs587776736
NM_000133.3(F9):c.541G>T (p.Val181Phe) rs387906477
NM_000133.3(F9):c.571C>T (p.Arg191Cys) rs137852237
NM_000133.3(F9):c.572G>A (p.Arg191His) rs137852238
NM_000133.3(F9):c.655C>T (p.Gln219Ter) rs137852239
NM_000133.3(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000133.3(F9):c.682G>T (p.Val228Phe) rs137852243
NM_000133.3(F9):c.697G>A (p.Ala233Thr) rs387906478
NM_000133.3(F9):c.709C>T (p.Gln237Ter) rs137852244
NM_000133.3(F9):c.710A>T (p.Gln237Leu) rs137852245
NM_000133.3(F9):c.755G>C (p.Cys252Ser) rs267606792
NM_000133.3(F9):c.79G>A (p.Glu27Lys) rs387906475
NM_000133.3(F9):c.804T>G (p.Cys268Trp) rs137852246
NM_000133.3(F9):c.82T>C (p.Cys28Arg) rs387906481
NM_000133.3(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000133.3(F9):c.872A>T (p.Glu291Val) rs137852279
NM_000133.3(F9):c.880C>T (p.Arg294Ter) rs137852248
NM_000133.3(F9):c.881G>A (p.Arg294Gln) rs137852249
NM_000133.3(F9):c.88G>A (p.Val30Ile)
NM_000133.3(F9):c.88G>C (p.Val30Leu)
NM_000133.3(F9):c.892C>T (p.Arg298Ter) rs137852250
NM_000133.3(F9):c.917A>G (p.Asn306Ser) rs137852251
NM_000133.3(F9):c.998C>T (p.Pro333Leu) rs137852252

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