ClinVar Miner

List of variants in gene VWF reported as pathogenic by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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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.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser) rs61750070 0.00004
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3925A>G (p.Ile1309Val) rs61749389
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys) rs61750071

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