ClinVar Miner

List of variants in gene VWF reported as pathogenic by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4075G>A (p.Glu1359Lys) rs61749407 0.00001
NM_000552.5(VWF):c.1110-1G>T rs61754005
NM_000552.5(VWF):c.1730-1G>T rs1591889534
NM_000552.5(VWF):c.1843dup (p.Cys615fs) rs2136454246
NM_000552.5(VWF):c.3157dup (p.Gln1053fs) rs2136420496
NM_000552.5(VWF):c.4413del (p.Asp1472fs) rs1565831817

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