ClinVar Miner

List of variants in gene VWF reported as pathogenic for not specified

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 12p13.31(chr12:6108512-6252553)
NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys) rs267607326
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.4382C>T (p.Ala1461Val) rs61750089
NM_000552.5(VWF):c.4496T>A (p.Val1499Glu) rs1555194979
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117

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