ClinVar Miner

List of variants in gene F9 reported as pathogenic for not specified

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000133.4(F9):c.1150C>T (p.Arg384Ter) rs137852261 0.00001
NM_000133.4(F9):c.354G>A (p.Trp118Ter) rs1234002716 0.00001
NM_000133.4(F9):c.1106_1113del (p.Leu369fs) rs1603267391
NM_000133.4(F9):c.1113C>A (p.Tyr371Ter) rs1603267398
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.1173T>A (p.Tyr391Ter) rs1603267411
NM_000133.4(F9):c.1186T>A (p.Cys396Ser) rs1603267420
NM_000133.4(F9):c.1241C>T (p.Pro414Leu) rs1603267443
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.1304G>A (p.Cys435Tyr) rs1385141619
NM_000133.4(F9):c.1325G>A (p.Gly442Glu) rs1603267474
NM_000133.4(F9):c.1361T>C (p.Ile454Thr) rs1603267486
NM_000133.4(F9):c.226G>A (p.Glu76Lys) rs1603264236
NM_000133.4(F9):c.252+5G>A rs1266788575
NM_000133.4(F9):c.260T>G (p.Phe87Cys) rs1603264299
NM_000133.4(F9):c.304T>C (p.Cys102Arg) rs1603264719
NM_000133.4(F9):c.344A>G (p.Tyr115Cys) rs1603264727
NM_000133.4(F9):c.38del (p.Gly13fs) rs1603263376
NM_000133.4(F9):c.392-1G>C rs1603265480
NM_000133.4(F9):c.416G>A (p.Gly139Asp) rs1216516070
NM_000133.4(F9):c.422G>A (p.Cys141Tyr) rs1351675410
NM_000133.4(F9):c.427C>T (p.Gln143Ter) rs1603265487
NM_000133.4(F9):c.484C>T (p.Arg162Ter) rs137852272
NM_000133.4(F9):c.509G>A (p.Cys170Tyr) rs1603265500
NM_000133.4(F9):c.533G>T (p.Cys178Phe) rs1603265779
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>A rs1603265832
NM_000133.4(F9):c.731T>C (p.Leu244Ser) rs1603267171
NM_000133.4(F9):c.88+1G>T rs1603263397
NM_000133.4(F9):c.880C>T (p.Arg294Ter) rs137852248
NM_000133.4(F9):c.892C>T (p.Arg298Ter) rs137852250
NM_000133.4(F9):c.947T>C (p.Ile316Thr) rs1603267344

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