ClinVar Miner

List of variants in gene F9 reported as pathogenic for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_000133.4(F9):c.1345C>T (p.Arg449Trp) rs757996262 0.00009
NM_000133.4(F9):c.316G>A (p.Gly106Ser) rs137852233 0.00004
NM_000133.4(F9):c.163T>A (p.Phe55Ile) rs759987427 0.00002
NM_000133.4(F9):c.301C>G (p.Pro101Ala) rs137852232 0.00002
NM_000133.4(F9):c.-35G>A rs1166164399 0.00001
NM_000133.4(F9):c.1031T>C (p.Ile344Thr) rs387906482 0.00001
NM_000133.4(F9):c.1150C>T (p.Arg384Ter) rs137852261 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.354G>A (p.Trp118Ter) rs1234002716 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.890T>A (p.Ile297Asn) rs752084251 0.00001
E7D
F378L
F9, 17747G-A
F9, 17747G-C
F9, EX2-8DEL
F9, EX5-8DEL
F9, GLY367ARG
F9, TRP215TER
NC_000023.10:g.(?_138612860)_(138613021_?)del
NC_000023.10:g.(?_138612923)_(138619546_138623234)del
NC_000023.10:g.(?_138633201)_(138633443_?)del
NC_000023.11:g.(?_139530701)_(139563439_?)del
NC_000023.11:g.(?_139530738)_(139530853_139537009)del
NC_000023.11:g.(?_139530739)_(139563459_?)del
NC_000023.11:g.(?_139530759)_(139562076_?)del
NC_000023.11:g.(?_139541049)_(139563439_?)del
NC_000023.11:g.139530716T>A rs1178811105
NC_000023.11:g.139530731A>T rs1927322453
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.(391+1_392-1)insN[?]
NM_000133.4(F9):c.*1157A>G rs1317977313
NM_000133.4(F9):c.-17A>G rs1927322926
NM_000133.4(F9):c.-17del rs2148352878
NM_000133.4(F9):c.-22T>C rs2148352869
NM_000133.4(F9):c.1009G>A (p.Ala337Thr) rs137852253
NM_000133.4(F9):c.1009G>C (p.Ala337Pro) rs137852253
NM_000133.4(F9):c.1010C>T (p.Ala337Val)
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.1062T>A (p.Ser354Arg) rs2148367882
NM_000133.4(F9):c.1064G>T (p.Gly355Val) rs137852256
NM_000133.4(F9):c.1067G>A (p.Trp356Ter)
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.1086del (p.Arg364fs)
NM_000133.4(F9):c.1088G>T (p.Gly363Val) rs387906479
NM_000133.4(F9):c.1094C>G (p.Ser365Ter)
NM_000133.4(F9):c.1108C>T (p.Gln370Ter)
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.1148T>A (p.Leu383His)
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.1161del (p.Lys387fs)
NM_000133.4(F9):c.1180A>G (p.Met394Val) rs137852262
NM_000133.4(F9):c.1182G>A (p.Met394Ile)
NM_000133.4(F9):c.1183T>A (p.Phe395Ile) rs1175050951
NM_000133.4(F9):c.1187G>A (p.Cys396Tyr)
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.1190C>T (p.Ala397Val)
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.1293G>T (p.Trp431Cys)
NM_000133.4(F9):c.1294G>A (p.Gly432Ser)
NM_000133.4(F9):c.1304G>A (p.Cys435Tyr) rs1385141619
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.1357T>C (p.Trp453Arg) rs137852269
NM_000133.4(F9):c.1358G>A (p.Trp453Ter) rs2148368332
NM_000133.4(F9):c.1359G>A (p.Trp453Ter)
NM_000133.4(F9):c.1369A>T (p.Lys457Ter) rs137852270
NM_000133.4(F9):c.138G>Y (p.Arg46Ser)
NM_000133.4(F9):c.142A>G (p.Asn48Asp)
NM_000133.4(F9):c.142A>T (p.Asn48Tyr) rs1927493197
NM_000133.4(F9):c.148G>A (p.Gly50Ser) rs1556435940
NM_000133.4(F9):c.169C>T (p.Gln57Ter) rs137852223
NM_000133.4(F9):c.191G>A (p.Cys64Tyr) rs1330779541
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.237_247del (p.Thr81fs) rs2148356221
NM_000133.4(F9):c.252+5G>A rs1266788575
NM_000133.4(F9):c.253-1G>C rs1434866164
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.287A>C (p.Gln96Pro) rs137852231
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.344A>G (p.Tyr115Cys) rs1603264727
NM_000133.4(F9):c.356G>A (p.Cys119Tyr)
NM_000133.4(F9):c.384T>A (p.Cys128Ter) rs780435919
NM_000133.4(F9):c.390_392-2726delinsTTCCAGTTTCAACTTGTTTCAGAGGGAAACTTTGAACATGAGTATT
NM_000133.4(F9):c.392del (p.Asp131fs)
NM_000133.4(F9):c.401G>C (p.Cys134Ser) rs1927764839
NM_000133.4(F9):c.407T>C (p.Ile136Thr) rs1603265481
NM_000133.4(F9):c.412A>C (p.Asn138His)
NM_000133.4(F9):c.416G>A (p.Gly139Asp) rs1216516070
NM_000133.4(F9):c.423_424insAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATGGCAGATGC (p.Glu142fs)
NM_000133.4(F9):c.478G>A (p.Gly160Arg)
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.499C>T (p.Gln167Ter) rs2148361240
NM_000133.4(F9):c.520+13A>G rs1603265507
NM_000133.4(F9):c.521-35_723+84del rs1603265760
NM_000133.4(F9):c.52T>C (p.Cys18Arg) rs387906474
NM_000133.4(F9):c.532T>C (p.Cys178Arg) rs2148362390
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.545_546del (p.Ser182fs) rs1433656857
NM_000133.4(F9):c.655C>T (p.Gln219Ter) rs137852239
NM_000133.4(F9):c.659C>A (p.Ser220Ter)
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.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.723G>A (p.Gln241=)
NM_000133.4(F9):c.742del (p.Val248fs)
NM_000133.4(F9):c.755G>A (p.Cys252Tyr)
NM_000133.4(F9):c.755G>C (p.Cys252Ser) rs267606792
NM_000133.4(F9):c.782G>A (p.Trp261Ter) rs2148367245
NM_000133.4(F9):c.79G>A (p.Glu27Lys) rs387906475
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.838+1_838+16del rs2148367304
NM_000133.4(F9):c.839-1G>A rs1439169192
NM_000133.4(F9):c.839G>A (p.Gly280Asp) rs1275842849
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+2T>C rs2148353009
NM_000133.4(F9):c.88+5_88+8del rs1603263399
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.881G>T (p.Arg294Leu)
NM_000133.4(F9):c.887T>A (p.Val296Glu) rs1371397743
NM_000133.4(F9):c.88G>A (p.Val30Ile) rs1603263395
NM_000133.4(F9):c.88G>C (p.Val30Leu) rs1603263395
NM_000133.4(F9):c.892C>T (p.Arg298Ter) rs137852250
NM_000133.4(F9):c.917A>G (p.Asn306Ser) rs137852251
NM_000133.4(F9):c.944A>G (p.Asp315Gly)
NM_000133.4(F9):c.950C>T (p.Ala317Val) rs2148367725
NM_000133.4(F9):c.990C>A (p.Tyr330Ter) rs1928109999
NM_000133.4(F9):c.998C>T (p.Pro333Leu) rs137852252

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