ClinVar Miner

List of variants in gene F9 studied for Hereditary factor IX deficiency disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 201
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000133.4(F9):c.*687G>A rs440051 0.24153
NM_000133.4(F9):c.580A>G (p.Thr194Ala) rs6048 0.22614
NM_000133.4(F9):c.391+7A>G rs6049 0.03872
NM_000133.4(F9):c.278-27A>G rs3134809 0.01152
NM_000133.4(F9):c.1095A>G (p.Ser365=) rs112057482 0.01021
NM_000133.4(F9):c.*799A>T rs772966694 0.00978
NM_000133.4(F9):c.1110G>A (p.Gln370=) rs34698779 0.00833
NM_000133.4(F9):c.*606G>A rs191483077 0.00507
NM_000133.4(F9):c.967G>A (p.Glu323Lys) rs150351950 0.00294
NM_000133.4(F9):c.1381A>C (p.Thr461Pro) rs4149751 0.00129
NM_000133.4(F9):c.*1048G>A rs752396182 0.00125
NM_000133.4(F9):c.391+10T>G rs375734226 0.00116
NM_000133.4(F9):c.696T>C (p.Asp232=) rs140835723 0.00113
NM_000133.4(F9):c.819T>C (p.Val273=) rs1800455 0.00110
NM_000133.4(F9):c.1257G>T (p.Val419=) rs61731481 0.00100
NM_000133.4(F9):c.19A>T (p.Ile7Phe) rs150190385 0.00086
NM_000133.4(F9):c.*476C>A rs4149763 0.00052
NM_000133.4(F9):c.*293C>T rs747670394 0.00048
NM_000133.4(F9):c.907C>T (p.His303Tyr) rs1801202 0.00044
NM_000133.4(F9):c.8G>A (p.Arg3His) rs148060786 0.00042
NM_000133.4(F9):c.*794A>G rs1057515800 0.00031
NM_000133.4(F9):c.1029C>T (p.Asn343=) rs145026483 0.00017
NM_000133.4(F9):c.250A>G (p.Thr84Ala) rs201120367 0.00013
NM_000133.4(F9):c.768C>T (p.Ile256=) rs758909063 0.00012
NM_000133.4(F9):c.1143A>G (p.Thr381=) rs761784613 0.00011
NM_000133.4(F9):c.114C>T (p.Asn38=) rs745353370 0.00011
NM_000133.4(F9):c.51C>T (p.Ile17=) rs774612303 0.00011
NM_000133.4(F9):c.769G>A (p.Val257Ile) rs200608775 0.00010
NM_000133.4(F9):c.1345C>T (p.Arg449Trp) rs757996262 0.00009
NM_000133.4(F9):c.1346G>A (p.Arg449Gln) rs143018900 0.00007
NM_000133.4(F9):c.*621G>A rs1278613777 0.00005
NM_000133.4(F9):c.523C>T (p.Pro175Ser) rs762986355 0.00005
NM_000133.4(F9):c.*10G>C rs186616567 0.00004
NM_000133.4(F9):c.*1122C>A rs907681842 0.00004
NM_000133.4(F9):c.108C>T (p.Asn36=) rs184837275 0.00004
NM_000133.4(F9):c.316G>A (p.Gly106Ser) rs137852233 0.00004
NM_000133.4(F9):c.582T>G (p.Thr194=) rs754155651 0.00004
NM_000133.4(F9):c.658T>A (p.Ser220Thr) rs777361659 0.00004
NM_000133.4(F9):c.730T>C (p.Leu244=) rs765470577 0.00004
NM_000133.4(F9):c.834C>T (p.Val278=) rs199844858 0.00004
NM_000133.4(F9):c.333C>T (p.Asp111=) rs139289585 0.00003
NM_000133.4(F9):c.391+4A>G rs749754992 0.00003
NM_000133.4(F9):c.485G>A (p.Arg162Gln) rs779281053 0.00003
NM_000133.4(F9):c.712T>G (p.Phe238Val) rs143128467 0.00003
NM_000133.4(F9):c.966C>T (p.Asp322=) rs373107855 0.00003
NM_000133.4(F9):c.*523A>G rs921041074 0.00002
NM_000133.4(F9):c.130C>T (p.Pro44Ser) rs776894974 0.00002
NM_000133.4(F9):c.301C>G (p.Pro101Ala) rs137852232 0.00002
NM_000133.4(F9):c.48C>A (p.Thr16=) rs768833956 0.00002
NM_000133.4(F9):c.54C>T (p.Cys18=) rs1337284408 0.00002
NM_000133.4(F9):c.*1283C>G rs1295265700 0.00001
NM_000133.4(F9):c.*197G>A rs1057515798 0.00001
NM_000133.4(F9):c.1026G>A (p.Thr342=) rs954954812 0.00001
NM_000133.4(F9):c.1031T>C (p.Ile344Thr) rs387906482 0.00001
NM_000133.4(F9):c.109G>A (p.Ala37Thr) rs367569299 0.00001
NM_000133.4(F9):c.1150C>T (p.Arg384Ter) rs137852261 0.00001
NM_000133.4(F9):c.1210A>G (p.Arg404Gly) rs1390673858 0.00001
NM_000133.4(F9):c.122T>G (p.Leu41Arg) rs371373268 0.00001
NM_000133.4(F9):c.224G>A (p.Arg75Gln) rs137852228 0.00001
NM_000133.4(F9):c.31T>A (p.Ser11Thr) rs387906480 0.00001
NM_000133.4(F9):c.571C>T (p.Arg191Cys) rs137852237 0.00001
NM_000133.4(F9):c.572G>A (p.Arg191His) rs137852238 0.00001
NM_000133.4(F9):c.60A>G (p.Leu20=) rs762082146 0.00001
NM_000133.4(F9):c.9C>T (p.Arg3=) rs1335753805 0.00001
E7D
F378L
F9, 17747G-A
F9, 17747G-C
F9, EX2-8DEL
F9, EX4INS
F9, EX5-8DEL
F9, GLY367ARG
F9, TRP215TER
NC_000023.10:g.(?_138612923)_(138619546_138623234)del
NC_000023.11.g.(?_139530739)_(139563459_?)del
NC_000023.11:g.(?_139530738)_(139530853_139537009)del
NG_007994.1:g.(11652_15340)_(15455_22627)del
NG_007994.1:g.(11652_15340)_(22757_25326)del
NG_007994.1:g.(25530_35005)_(35121_35788)del
NM_000133.3:c.425_426insAlu
NM_000133.4(F9):c.*1157A>G rs1317977313
NM_000133.4(F9):c.1004G>A (p.Cys335Tyr)
NM_000133.4(F9):c.1004G>T (p.Cys335Phe)
NM_000133.4(F9):c.1005C>G (p.Cys335Trp) rs1928110579
NM_000133.4(F9):c.1009G>C (p.Ala337Pro) rs137852253
NM_000133.4(F9):c.1024A>G (p.Thr342Ala) rs1603267362
NM_000133.4(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.4(F9):c.1058T>C (p.Val353Ala) rs137852255
NM_000133.4(F9):c.1064G>T (p.Gly355Val) rs137852256
NM_000133.4(F9):c.1068G>A (p.Trp356Ter)
NM_000133.4(F9):c.1069G>A (p.Gly357Arg) rs137852257
NM_000133.4(F9):c.1070G>A (p.Gly357Glu) rs137852275
NM_000133.4(F9):c.1084A>G (p.Lys362Glu)
NM_000133.4(F9):c.1086del (p.Arg364fs)
NM_000133.4(F9):c.1088G>T (p.Gly363Val) rs387906479
NM_000133.4(F9):c.1120G>T (p.Val374Phe) rs137852271
NM_000133.4(F9):c.1135C>T (p.Arg379Ter) rs137852258
NM_000133.4(F9):c.1136G>A (p.Arg379Gln) rs137852259
NM_000133.4(F9):c.1138G>A (p.Ala380Thr) rs2148367990
NM_000133.4(F9):c.1144T>C (p.Cys382Arg) rs137852260
NM_000133.4(F9):c.1151G>C (p.Arg384Pro) rs137852283
NM_000133.4(F9):c.1151G>T (p.Arg384Leu) rs137852283
NM_000133.4(F9):c.1175ACA[1] (p.Asn393del)
NM_000133.4(F9):c.1180A>G (p.Met394Val) rs137852262
NM_000133.4(F9):c.1187G>C (p.Cys396Ser) rs137852273
NM_000133.4(F9):c.1189G>C (p.Ala397Pro) rs137852281
NM_000133.4(F9):c.1193G>T (p.Gly398Val)
NM_000133.4(F9):c.1217C>T (p.Ser406Leu) rs137852263
NM_000133.4(F9):c.1228G>C (p.Asp410His) rs137852278
NM_000133.4(F9):c.1231A>G (p.Ser411Gly) rs137852277
NM_000133.4(F9):c.1232G>T (p.Ser411Ile) rs137852276
NM_000133.4(F9):c.1235G>A (p.Gly412Glu)
NM_000133.4(F9):c.1240C>A (p.Pro414Thr) rs137852265
NM_000133.4(F9):c.1256T>A (p.Val419Glu) rs137852280
NM_000133.4(F9):c.127C>T (p.Arg43Trp) rs1603264205
NM_000133.4(F9):c.128G>A (p.Arg43Gln) rs1275708479
NM_000133.4(F9):c.1307C>A (p.Ala436Glu) rs137852266
NM_000133.4(F9):c.1307C>T (p.Ala436Val) rs137852266
NM_000133.4(F9):c.1324G>A (p.Gly442Arg) rs137852267
NM_000133.4(F9):c.1328T>C (p.Ile443Thr) rs137852268
NM_000133.4(F9):c.1332T>C (p.Tyr444=) rs1928132545
NM_000133.4(F9):c.1357T>C (p.Trp453Arg) rs137852269
NM_000133.4(F9):c.1369A>T (p.Lys457Ter) rs137852270
NM_000133.4(F9):c.1385A>G (p.Ter462=) rs561793582
NM_000133.4(F9):c.138G>Y (p.Arg46Ser)
NM_000133.4(F9):c.141T>A (p.Tyr47Ter) rs1556435929
NM_000133.4(F9):c.142A>T (p.Asn48Tyr) rs1927493197
NM_000133.4(F9):c.169C>T (p.Gln57Ter) rs137852223
NM_000133.4(F9):c.214G>T (p.Glu72Ter) rs1927498635
NM_000133.4(F9):c.218A>T (p.Glu73Val) rs137852226
NM_000133.4(F9):c.223C>T (p.Arg75Ter) rs137852227
NM_000133.4(F9):c.237A>C (p.Glu79Asp) rs137852229
NM_000133.4(F9):c.252+5G>A rs1266788575
NM_000133.4(F9):c.271T>A (p.Tyr91Asn) rs1927507602
NM_000133.4(F9):c.277+1G>A rs1224128266
NM_000133.4(F9):c.277+2T>C rs587776735
NM_000133.4(F9):c.278-3A>G rs398122990
NM_000133.4(F9):c.278A>G (p.Asp93Gly) rs137852230
NM_000133.4(F9):c.284A>C (p.Asp95Ala) rs1927589695
NM_000133.4(F9):c.284A>T (p.Asp95Val) rs1927589695
NM_000133.4(F9):c.287A>C (p.Gln96Pro) rs137852231
NM_000133.4(F9):c.314G>A (p.Gly105Asp) rs1927590546
NM_000133.4(F9):c.328G>A (p.Asp110Asn) rs137852274
NM_000133.4(F9):c.329A>G (p.Asp110Gly) rs137852234
NM_000133.4(F9):c.365G>T (p.Gly122Val) rs1927592770
NM_000133.4(F9):c.390_392-2726delinsTTCCAGTTTCAACTTGTTTCAGAGGGAAACTTTGAACATGAGTATT
NM_000133.4(F9):c.391+5G>A rs2148358021
NM_000133.4(F9):c.391+5_391+8del rs1927593812
NM_000133.4(F9):c.392del (p.Asp131fs)
NM_000133.4(F9):c.401G>C (p.Cys134Ser) rs1927764839
NM_000133.4(F9):c.479G>C (p.Gly160Ala) rs137852235
NM_000133.4(F9):c.484C>T (p.Arg162Ter) rs137852272
NM_000133.4(F9):c.496A>T (p.Asn166Tyr) rs137852236
NM_000133.4(F9):c.505T>C (p.Ser169Pro)
NM_000133.4(F9):c.507C>G (p.Ser169=) rs565055999
NM_000133.4(F9):c.517G>A (p.Ala173Thr) rs865782271
NM_000133.4(F9):c.519dup (p.Val174fs) rs1556006174
NM_000133.4(F9):c.520+13A>G rs1603265507
NM_000133.4(F9):c.520G>A (p.Val174Met) rs1603265504
NM_000133.4(F9):c.52T>C (p.Cys18Arg) rs387906474
NM_000133.4(F9):c.540_541del (p.Arg180fs) rs587776736
NM_000133.4(F9):c.541G>T (p.Val181Phe) rs387906477
NM_000133.4(F9):c.584T>A (p.Val195Asp) rs374674030
NM_000133.4(F9):c.612T>C (p.Ser204=) rs1199474371
NM_000133.4(F9):c.655C>T (p.Gln219Ter) rs137852239
NM_000133.4(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000133.4(F9):c.677G>A (p.Arg226Gln) rs137852241
NM_000133.4(F9):c.682G>T (p.Val228Phe) rs137852243
NM_000133.4(F9):c.68T>C (p.Leu23Pro)
NM_000133.4(F9):c.697G>A (p.Ala233Thr) rs387906478
NM_000133.4(F9):c.704C>A (p.Pro235Gln) rs2148362579
NM_000133.4(F9):c.709C>T (p.Gln237Ter) rs137852244
NM_000133.4(F9):c.710A>T (p.Gln237Leu) rs137852245
NM_000133.4(F9):c.719G>A (p.Trp240Ter) rs1603265827
NM_000133.4(F9):c.720G>A (p.Trp240Ter) rs1603265830
NM_000133.4(F9):c.723+1G>T rs1603265832
NM_000133.4(F9):c.731T>C (p.Leu244Ser) rs1603267171
NM_000133.4(F9):c.755G>C (p.Cys252Ser) rs267606792
NM_000133.4(F9):c.756T>G (p.Cys252Trp) rs1556008316
NM_000133.4(F9):c.79G>A (p.Glu27Lys) rs387906475
NM_000133.4(F9):c.7C>T (p.Arg3Cys) rs766259893
NM_000133.4(F9):c.804T>G (p.Cys268Trp) rs137852246
NM_000133.4(F9):c.82T>C (p.Cys28Arg) rs387906481
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000133.4(F9):c.839-1G>A rs1439169192
NM_000133.4(F9):c.853G>T (p.Glu285Ter)
NM_000133.4(F9):c.871G>C (p.Glu291Gln)
NM_000133.4(F9):c.872A>T (p.Glu291Val) rs137852279
NM_000133.4(F9):c.88+5_88+8del rs1603263399
NM_000133.4(F9):c.88+75A>G
NM_000133.4(F9):c.880C>T (p.Arg294Ter) rs137852248
NM_000133.4(F9):c.881G>A (p.Arg294Gln) rs137852249
NM_000133.4(F9):c.884_895del (p.Asn295_Arg298del) rs1928103331
NM_000133.4(F9):c.887T>A (p.Val296Glu) rs1371397743
NM_000133.4(F9):c.892C>T (p.Arg298Ter) rs137852250
NM_000133.4(F9):c.914A>G (p.Tyr305Cys) rs1603267332
NM_000133.4(F9):c.917A>G (p.Asn306Ser) rs137852251
NM_000133.4(F9):c.950C>T (p.Ala317Val) rs2148367725
NM_000133.4(F9):c.959A>G (p.Glu320Gly)
NM_000133.4(F9):c.998C>T (p.Pro333Leu) rs137852252
Single allele

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.