ClinVar Miner

List of variants studied for Hereditary factor IX deficiency disease by OMIM

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Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_000133.4(F9):c.316G>A (p.Gly106Ser) rs137852233 0.00004
NM_000133.4(F9):c.301C>G (p.Pro101Ala) rs137852232 0.00002
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.571C>T (p.Arg191Cys) rs137852237 0.00001
NM_000133.4(F9):c.572G>A (p.Arg191His) rs137852238 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.1009G>C (p.Ala337Pro) rs137852253
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.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.1144T>C (p.Cys382Arg) rs137852260
NM_000133.4(F9):c.1151G>C (p.Arg384Pro) rs137852283
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.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.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.1357T>C (p.Trp453Arg) rs137852269
NM_000133.4(F9):c.1369A>T (p.Lys457Ter) rs137852270
NM_000133.4(F9):c.138G>Y (p.Arg46Ser)
NM_000133.4(F9):c.169C>T (p.Gln57Ter) rs137852223
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.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.390_392-2726delinsTTCCAGTTTCAACTTGTTTCAGAGGGAAACTTTGAACATGAGTATT
NM_000133.4(F9):c.392del (p.Asp131fs)
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.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.655C>T (p.Gln219Ter) rs137852239
NM_000133.4(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000133.4(F9):c.682G>T (p.Val228Phe) rs137852243
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.723+1G>T rs1603265832
NM_000133.4(F9):c.755G>C (p.Cys252Ser) rs267606792
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.839-1G>A rs1439169192
NM_000133.4(F9):c.872A>T (p.Glu291Val) rs137852279
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.892C>T (p.Arg298Ter) rs137852250
NM_000133.4(F9):c.917A>G (p.Asn306Ser) rs137852251
NM_000133.4(F9):c.998C>T (p.Pro333Leu) rs137852252

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