ClinVar Miner

List of variants studied for von Willebrand disease type 3 by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.2443-1G>C rs61748480
NM_000552.5(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.5(VWF):c.3675-1G>A rs746457842
NM_000552.5(VWF):c.533-48_657+52del rs1591914708
NM_000552.5(VWF):c.6798+5G>A rs1591847103
NM_000552.5(VWF):c.6798+6A>G rs1591847100
NM_000552.5(VWF):c.7254_7255del (p.Cys2418fs) rs1591841452
NM_000552.5(VWF):c.7399C>T (p.Gln2467Ter) rs1591838792
NM_000552.5(VWF):c.7429T>C (p.Cys2477Arg) rs1591838774
NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs) rs267607364
NM_000552.5(VWF):c.7730-1G>T rs267607366
NM_000552.5(VWF):c.7863del (p.Thr2622fs) rs1591834850

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