ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Laboratory of Hematology, Radboud University Medical Center

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.5801T>G (p.Val1934Gly) rs139845585 0.00006
NM_000552.5(VWF):c.55G>A (p.Gly19Arg) rs61753983 0.00001
NM_000552.5(VWF):c.1607T>C (p.Leu536Pro) rs1591890769
NM_000552.5(VWF):c.1708T>C (p.Cys570Arg) rs2136455744
NM_000552.5(VWF):c.1955G>T (p.Cys652Phe) rs1438247325
NM_000552.5(VWF):c.2936G>A (p.Ser979Asn) rs267607312
NM_000552.5(VWF):c.3389G>A (p.Cys1130Tyr) rs267607324
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr) rs1591865026
NM_000552.5(VWF):c.3845T>C (p.Leu1282Pro) rs61749378
NM_000552.5(VWF):c.4022G>C (p.Arg1341Pro) rs61749403
NM_000552.5(VWF):c.4263C>A (p.Asn1421Lys) rs61750082
NM_000552.5(VWF):c.4604_4612del (p.Ile1535_Val1537del) rs267607340
NM_000552.5(VWF):c.4625A>G (p.Tyr1542Cys) rs2136412168
NM_000552.5(VWF):c.4667A>G (p.Gln1556Arg) rs61750110
NM_000552.5(VWF):c.4717G>A (p.Gly1573Ser) rs267607349
NM_000552.5(VWF):c.4850_4867del (p.Lys1617_Asp1622del) rs2136411706
NM_000552.5(VWF):c.5096C>T (p.Ser1699Phe) rs2136409487
NM_000552.5(VWF):c.5146G>C (p.Ala1716Pro) rs1194776238
NM_000552.5(VWF):c.6536C>T (p.Ser2179Phe) rs61750620
NM_000552.5(VWF):c.6551G>A (p.Cys2184Tyr) rs2136385288

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.