ClinVar Miner

List of variants in gene F9 reported as pathogenic for inherited thrombophilia

Included ClinVar conditions (31):
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Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_000133.4(F9):c.1345C>T (p.Arg449Trp) rs757996262 0.00008
NM_000133.4(F9):c.1346G>A (p.Arg449Gln) rs143018900 0.00007
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.1150C>T (p.Arg384Ter) rs137852261 0.00001
NM_000133.4(F9):c.1174A>G (p.Asn392Asp) rs1603267412 0.00001
NM_000133.4(F9):c.1190C>T (p.Ala397Val) rs758194285 0.00001
NM_000133.4(F9):c.354G>A (p.Trp118Ter) rs1234002716 0.00001
NM_000133.4(F9):c.459G>A (p.Val153=) rs144314232 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
NC_000023.10:g.(?_138612860)_(138613021_?)del
NC_000023.10:g.(?_138633201)_(138633443_?)del
NC_000023.11:g.(?_139530701)_(139563439_?)del
NC_000023.11:g.(?_139530759)_(139562076_?)del
NC_000023.11:g.(?_139541049)_(139563439_?)del
NM_000133.4(F9):c.*1157A>G rs1317977313
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.1067G>A (p.Trp356Ter) rs1479241411
NM_000133.4(F9):c.1094C>G (p.Ser365Ter) rs2520845719
NM_000133.4(F9):c.1108C>T (p.Gln370Ter) rs1928116697
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.1144T>C (p.Cys382Arg) rs137852260
NM_000133.4(F9):c.1148T>A (p.Leu383His) rs1387119011
NM_000133.4(F9):c.1151G>T (p.Arg384Leu) rs137852283
NM_000133.4(F9):c.1161del (p.Lys387fs) rs2520846572
NM_000133.4(F9):c.1182G>A (p.Met394Ile) rs1388797589
NM_000133.4(F9):c.1183T>A (p.Phe395Ile) rs1175050951
NM_000133.4(F9):c.1187G>A (p.Cys396Tyr) rs137852273
NM_000133.4(F9):c.1217C>G (p.Ser406Ter)
NM_000133.4(F9):c.1231A>G (p.Ser411Gly) rs137852277
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) rs1371750567
NM_000133.4(F9):c.1294G>A (p.Gly432Ser) rs1170838100
NM_000133.4(F9):c.1328T>C (p.Ile443Thr) rs137852268
NM_000133.4(F9):c.1358G>A (p.Trp453Ter) rs2148368332
NM_000133.4(F9):c.141_151del (p.Tyr47_Lys51delinsTer)
NM_000133.4(F9):c.142A>G (p.Asn48Asp) rs1927493197
NM_000133.4(F9):c.148G>A (p.Gly50Ser) rs1556435940
NM_000133.4(F9):c.160G>A (p.Glu54Lys)
NM_000133.4(F9):c.191G>A (p.Cys64Tyr) rs1330779541
NM_000133.4(F9):c.223C>T (p.Arg75Ter) rs137852227
NM_000133.4(F9):c.224G>A (p.Arg75Gln) rs137852228
NM_000133.4(F9):c.237_247del (p.Thr81fs) rs2148356221
NM_000133.4(F9):c.253-1G>C rs1434866164
NM_000133.4(F9):c.268C>T (p.Gln90Ter)
NM_000133.4(F9):c.278-3A>G rs398122990
NM_000133.4(F9):c.344A>G (p.Tyr115Cys) rs1603264727
NM_000133.4(F9):c.356G>A (p.Cys119Tyr) rs1349887620
NM_000133.4(F9):c.384T>A (p.Cys128Ter) rs780435919
NM_000133.4(F9):c.412A>C (p.Asn138His) rs2520790255
NM_000133.4(F9):c.423_424insAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATGGCAGATGC (p.Glu142fs) rs2520790212
NM_000133.4(F9):c.478G>A (p.Gly160Arg) rs1927768022
NM_000133.4(F9):c.484C>A (p.Arg162=)
NM_000133.4(F9):c.484C>T (p.Arg162Ter) rs137852272
NM_000133.4(F9):c.499C>T (p.Gln167Ter) rs2148361240
NM_000133.4(F9):c.520+13A>G rs1603265507
NM_000133.4(F9):c.532T>C (p.Cys178Arg) rs2148362390
NM_000133.4(F9):c.545_546del (p.Ser182fs) rs1433656857
NM_000133.4(F9):c.659C>A (p.Ser220Ter) rs2520802842
NM_000133.4(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000133.4(F9):c.723G>A (p.Gln241=) rs1182648920
NM_000133.4(F9):c.735del (p.Asn245fs)
NM_000133.4(F9):c.742del (p.Val248fs) rs2520839064
NM_000133.4(F9):c.755G>A (p.Cys252Tyr) rs267606792
NM_000133.4(F9):c.782G>A (p.Trp261Ter) rs2148367245
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) rs2520842805
NM_000133.4(F9):c.88+2T>C rs2148353009
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) rs137852249
NM_000133.4(F9):c.88G>A (p.Val30Ile) rs1603263395
NM_000133.4(F9):c.892C>T (p.Arg298Ter) rs137852250
NM_000133.4(F9):c.944A>G (p.Asp315Gly) rs1928107434
NM_000133.4(F9):c.990C>A (p.Tyr330Ter) rs1928109999

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