ClinVar Miner

List of variants reported as benign for Hereditary factor VIII deficiency disease by Illumina Laboratory Services, Illumina

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.*1672G>A rs1050705 0.55703
NM_000132.4(F8):c.3864A>C (p.Ser1288=) rs1800292 0.09246
NM_000132.4(F8):c.6769A>G (p.Met2257Val) rs1800297 0.07378
NM_000132.4(F8):c.4500G>A (p.Pro1500=) rs33921347 0.01389
NM_000132.4(F8):c.*29C>T rs5986887 0.01323
NM_000132.4(F8):c.1086G>A (p.Ala362=) rs1800289 0.01123
NM_000132.4(F8):c.2947G>A (p.Val983Ile) rs35295375 0.00205
NM_000132.4(F8):c.3236G>A (p.Arg1079Lys) rs143174629 0.00136
NM_000132.4(F8):c.4467C>G (p.Val1489=) rs35207609 0.00134
NM_000132.4(F8):c.*1001C>T rs183289212 0.00107
NM_000132.4(F8):c.*1214G>A rs34700571 0.00054
NM_000132.4(F8):c.6724G>A (p.Val2242Met) rs782654096 0.00008
NM_000132.4(F8):c.*1416G>T rs186338743 0.00003
NM_000132.4(F8):c.989A>G (p.His330Arg) rs782498015 0.00001
NM_000132.4(F8):c.3780C>G (p.Asp1260Glu) rs1800291

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