ClinVar Miner

List of variants reported as uncertain significance for von Willebrand disease 2 by Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000552.5(VWF):c.4130C>T (p.Ala1377Val) rs141211612 0.00063
NM_000552.5(VWF):c.5014G>A (p.Gly1672Arg) rs61750598 0.00018
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp) rs61749402 0.00005
NM_000552.5(VWF):c.604C>T (p.Arg202Trp) rs990682639 0.00003
NM_000552.5(VWF):c.3320A>G (p.Tyr1107Cys) rs267607319 0.00001
NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr) rs61750084 0.00001
NM_000552.5(VWF):c.5192C>T (p.Ser1731Leu) rs764077750 0.00001
NC_000012.12:g.6019283_6019313delins[NC_000022.11:g.16697696_16697726]
NC_000012.12:g.6019283_6019339delins[NC_000022.11:g.16697696_16697856]
NC_000012.12:g.6019283_6019391delins[NC_000022.11:g.16697696_16697804]
NC_000012.12:g.6019583_6019621delins[NC_000022.11:g.16697996_16698034]
NC_000012.12:g.6019583_6019629delins[NC_000022.11:g.16697996_16698042]
NC_000012.12:g.6019583_6019732delins[NC_000022.11:g.16697996_16698145]
NC_000012.12:g.6019621_6019629delins[NC_000022.11:g.16698034_16698042]
NC_000012.12:g.6019621_6019683delins[NC_000022.11:g.16698034_16698096]
NC_000012.12:g.6019621_6019732delins[NC_000022.11:g.16698034_16698145]
NM_000552.5(VWF):c.2678T>G (p.Leu893Arg) rs2136430556
NM_000552.5(VWF):c.3377G>A (p.Cys1126Tyr) rs1591866134
NM_000552.5(VWF):c.3389G>A (p.Cys1130Tyr) rs267607324
NM_000552.5(VWF):c.3389G>T (p.Cys1130Phe) rs267607324
NM_000552.5(VWF):c.3425G>T (p.Cys1142Phe) rs2136417522
NM_000552.5(VWF):c.3833T>C (p.Leu1278Pro) rs2136413762
NM_000552.5(VWF):c.3842T>G (p.Leu1281Arg) rs1591863438
NM_000552.5(VWF):c.3847G>C (p.Asp1283His) rs1219290844
NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu) rs61749400
NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln) rs61749403
NM_000552.5(VWF):c.4213AAG[3] (p.Lys1408del) rs61750078
NM_000552.5(VWF):c.4277G>C (p.Arg1426Pro) rs761308466
NM_000552.5(VWF):c.5146G>C (p.Ala1716Pro) rs1194776238
NM_000552.5(VWF):c.5338T>A (p.Tyr1780Asn) rs372002214
NM_000552.5(VWF):c.5459T>A (p.Val1820Glu) rs2136405756

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.