ClinVar Miner

List of variants in gene F9 reported as uncertain significance for Hereditary factor IX deficiency disease

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000133.4(F9):c.*799A>T rs772966694 0.00978
NM_000133.4(F9):c.19A>T (p.Ile7Phe) rs150190385 0.00086
NM_000133.4(F9):c.*293C>T rs747670394 0.00048
NM_000133.4(F9):c.*794A>G rs1057515800 0.00031
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.*1122C>A rs907681842 0.00004
NM_000133.4(F9):c.582T>G (p.Thr194=) rs754155651 0.00004
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.*523A>G rs921041074 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.1210A>G (p.Arg404Gly) rs1390673858 0.00001
NM_000133.4(F9):c.122T>G (p.Leu41Arg) rs371373268 0.00001
NM_000133.4(F9):c.60A>G (p.Leu20=) rs762082146 0.00001
NM_000133.4(F9):c.1332T>C (p.Tyr444=) rs1928132545
NM_000133.4(F9):c.517G>A (p.Ala173Thr) rs865782271
NM_000133.4(F9):c.520+13A>G rs1603265507
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.704C>A (p.Pro235Gln) rs2148362579
Single allele

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