List of variants in gene VWF reported as pathogenic for von Willebrand disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	rs41276738	0.00377
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys)	rs61750077	0.00010
NM_000552.5(VWF):c.3390C>T (p.Cys1130=)	rs1591865617	0.00001
NM_000552.5(VWF):c.3613C>T (p.Arg1205Cys)	rs373787920	0.00001
NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter)	rs61750606	0.00001
NC_000012.11:g.(6184718_6204625)_(6204751_6219539)del
NC_000012.11:g.(?_6058042)_(6233837_?)del
NM_000552.5(VWF):c.3467C>T (p.Thr1156Met)	rs267607328
NM_000552.5(VWF):c.50dup (p.Leu17fs)	rs751286556
NM_000552.5(VWF):c.5207del (p.Gly1736fs)
NM_000552.5(VWF):c.7483del (p.Leu2495fs)	rs1229452874
NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs)	rs267607364

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