List of variants reported as uncertain significance for von Willebrand disease type 3 by Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_000552.5(VWF):c.7082-13G>C	rs71581025	0.00108
NM_000552.5(VWF):c.4007G>A (p.Arg1336Gln)	rs886049741	0.00003
NM_000552.5(VWF):c.4944del (p.Ile1649fs)	rs61750591	0.00002
NM_000552.5(VWF):c.7887+2T>A	rs113814258	0.00002
NM_000552.5(VWF):c.874+2T>C	rs1944829900	0.00002
NM_000552.5(VWF):c.7636A>T (p.Asn2546Tyr)	rs61751298	0.00001
NM_000552.5(VWF):c.1574G>A (p.Gly525Glu)	rs2136455968
NM_000552.5(VWF):c.1729+3A>C	rs2136455692
NM_000552.5(VWF):c.1945+1G>T	rs2136454057
NM_000552.5(VWF):c.2186+2T>C	rs2136449402
NM_000552.5(VWF):c.220G>A (p.Gly74Arg)	rs2136535320
NM_000552.5(VWF):c.2282-2A>G	rs2136440498
NM_000552.5(VWF):c.2547-1G>C	rs2136430750
NM_000552.5(VWF):c.3222+2dup	rs2136420405
NM_000552.5(VWF):c.3379+2T>C	rs2136418281
NM_000552.5(VWF):c.3406_3407del (p.Arg1136fs)	rs2136417560
NM_000552.5(VWF):c.498C>A (p.Asn166Lys)	rs2136521923
NM_000552.5(VWF):c.5096C>T (p.Ser1699Phe)	rs2136409487
NM_000552.5(VWF):c.5146G>A (p.Ala1716Thr)	rs1194776238
NM_000552.5(VWF):c.533-3C>G	rs2136500500
NM_000552.5(VWF):c.5429C>A (p.Ala1810Glu)	rs2136408307
NM_000552.5(VWF):c.5455+2T>C	rs2136408262
NM_000552.5(VWF):c.5779T>C (p.Cys1927Arg)	rs2136403498
NM_000552.5(VWF):c.6520T>G (p.Cys2174Gly)	rs61750619
NM_000552.5(VWF):c.6697G>A (p.Glu2233Lys)	rs61750623
NM_000552.5(VWF):c.6901+1G>T	rs111537486
NM_000552.5(VWF):c.7182T>G (p.Cys2394Trp)	rs2136371247
NM_000552.5(VWF):c.7287+1G>C	rs1235191685
NM_000552.5(VWF):c.7405T>C (p.Ser2469Pro)	rs61751287
NM_000552.5(VWF):c.7619T>A (p.Val2540Asp)	rs150778949
NM_000552.5(VWF):c.8155+3G>A	rs61751304
NM_000552.5(VWF):c.8171G>A (p.Cys2724Tyr)	rs2136336917
NM_000552.5(VWF):c.8323T>C (p.Ser2775Pro)	rs2136336278
NM_000552.5(VWF):c.874+1G>A	rs267607302

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