ClinVar Miner

List of variants reported for Hereditary factor VIII deficiency disease by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 23
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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.224G>A (p.Arg75Gln) rs137852228 0.00001
NM_000133.4(F9):c.572G>A (p.Arg191His) rs137852238 0.00001
NM_000132.4(F8):c.2114-6760_2257del
NM_000132.4(F8):c.5993A>T (p.Tyr1998Phe) rs2073022685
NM_000133.4(F9):c.*1157A>G rs1317977313
NM_000133.4(F9):c.1009G>A (p.Ala337Thr) rs137852253
NM_000133.4(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.4(F9):c.1069G>A (p.Gly357Arg) rs137852257
NM_000133.4(F9):c.1106T>C (p.Leu369Pro) rs1603267393
NM_000133.4(F9):c.1136G>A (p.Arg379Gln) rs137852259
NM_000133.4(F9):c.407T>C (p.Ile136Thr) rs1603265481
NM_000133.4(F9):c.520+13A>G rs1603265507
NM_000133.4(F9):c.521-35_723+84del rs1603265760
NM_000133.4(F9):c.724-5_731del rs1603267163
NM_000133.4(F9):c.757G>A (p.Gly253Arg) rs1603267181
NM_000133.4(F9):c.802T>A (p.Cys268Ser) rs1603267194
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000133.4(F9):c.845A>G (p.His282Arg) rs753654616
NM_000133.4(F9):c.88+1G>A rs1603263397
NM_000133.4(F9):c.88+5G>T rs1603263401
NM_000133.4(F9):c.881G>A (p.Arg294Gln) rs137852249
NM_000133.4(F9):c.88G>C (p.Val30Leu) rs1603263395

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