ClinVar Miner

List of variants reported as likely pathogenic for von Willebrand disease type 1

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Total variants: 11
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HGVS dbSNP
NM_000552.4(VWF):c.2060G>A (p.Cys687Tyr) rs1591886521
NM_000552.4(VWF):c.3390C>T (p.Cys1130=) rs1591865617
NM_000552.4(VWF):c.5520dup (p.Gly1841fs) rs1591858979
NM_000552.4(VWF):c.6553C>T (p.Arg2185Trp) rs569962285
NM_000552.4(VWF):c.7730-1G>T rs267607366
NM_000552.5(VWF):c.3358_3359insC (p.Trp1120fs)
NM_000552.5(VWF):c.3805_3806insT (p.Asp1269fs)
NM_000552.5(VWF):c.4414del (p.Asp1472fs)
NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln) rs780538558
NM_000552.5(VWF):c.7580C>A (p.Pro2527His)
NM_000552.5(VWF):c.949del (p.Ile317fs)

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