ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_000552.5(VWF):c.5801T>G (p.Val1934Gly) rs139845585 0.00006
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp) rs61749402 0.00005
NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln) rs780538558 0.00003
NM_000552.5(VWF):c.6553C>T (p.Arg2185Trp) rs569962285 0.00003
NM_000552.5(VWF):c.3390C>T (p.Cys1130=) rs1591865617 0.00001
NM_000552.5(VWF):c.3944G>A (p.Arg1315His) rs61749396 0.00001
NM_000552.5(VWF):c.55G>A (p.Gly19Arg) rs61753983 0.00001
NM_000552.5(VWF):c.970C>T (p.Arg324Ter) rs61754000 0.00001
NC_000002.12:g.5853982_6200592del
NM_000552.5(VWF):c.1955G>T (p.Cys652Phe) rs1438247325
NM_000552.5(VWF):c.2060G>A (p.Cys687Tyr) rs1591886521
NM_000552.5(VWF):c.2936G>A (p.Ser979Asn) rs267607312
NM_000552.5(VWF):c.3358_3359insC (p.Trp1120fs) rs2136418339
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr) rs1591865026
NM_000552.5(VWF):c.3805_3806insT (p.Asp1269fs) rs2136413792
NM_000552.5(VWF):c.3842T>C (p.Leu1281Pro) rs1591863438
NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg) rs267607334
NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu) rs61749400
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000552.5(VWF):c.4213AAG[3] (p.Lys1408del) rs61750078
NM_000552.5(VWF):c.4342C>T (p.Gln1448Ter)
NM_000552.5(VWF):c.4414del (p.Asp1472fs) rs2136412581
NM_000552.5(VWF):c.4636del (p.Met1545_Val1546insTer) rs267607345
NM_000552.5(VWF):c.4850_4867del (p.Lys1617_Asp1622del) rs2136411706
NM_000552.5(VWF):c.4892G>A (p.Gly1631Asp) rs2136411659
NM_000552.5(VWF):c.5087T>G (p.Leu1696Arg) rs2136409514
NM_000552.5(VWF):c.5146G>C (p.Ala1716Pro) rs1194776238
NM_000552.5(VWF):c.5281dup (p.Met1761fs)
NM_000552.5(VWF):c.5520dup (p.Gly1841fs) rs1591858979
NM_000552.5(VWF):c.6536C>T (p.Ser2179Phe) rs61750620
NM_000552.5(VWF):c.6551G>A (p.Cys2184Tyr) rs2136385288
NM_000552.5(VWF):c.6854del (p.Ser2285fs)
NM_000552.5(VWF):c.7122_7123insAGCCCCCCCCCCCCGT (p.Cys2375fs)
NM_000552.5(VWF):c.7580C>A (p.Pro2527His) rs1943442849
NM_000552.5(VWF):c.7650_7651del (p.Gln2551fs)
NM_000552.5(VWF):c.7730-1G>T rs267607366
NM_000552.5(VWF):c.949del (p.Ile317fs) rs2136472072

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.