ClinVar Miner

List of variants in gene VWF reported as likely benign by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.6902-5T>A rs112046757 0.01517
NM_000552.5(VWF):c.6532G>T (p.Ala2178Ser) rs34230288 0.01330
NM_000552.5(VWF):c.5843-8C>G rs34444862 0.01303
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln) rs33978901 0.01237
NM_000552.5(VWF):c.5313G>T (p.Gly1771=) rs2229448 0.00914
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp) rs141087261 0.00842
NM_000552.5(VWF):c.55+8C>A rs114713980 0.00452
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu) rs149424724 0.00282
NM_000552.5(VWF):c.114C>T (p.Phe38=) rs2229443 0.00241
NM_000552.5(VWF):c.2103C>T (p.Cys701=) rs78995469 0.00185
NM_000552.5(VWF):c.1728G>T (p.Met576Ile) rs150146744 0.00155
NM_000552.5(VWF):c.3789G>A (p.Ser1263=) rs199831474 0.00146
NM_000552.5(VWF):c.6099C>T (p.Tyr2033=) rs55784921 0.00132
NM_000552.5(VWF):c.546G>A (p.Ser182=) rs143054357 0.00125
NM_000552.5(VWF):c.1563C>T (p.Cys521=) rs575601321 0.00114
NM_000552.5(VWF):c.2586G>T (p.Val862=) rs34510401 0.00109
NM_000552.5(VWF):c.4443G>T (p.Gly1481=) rs144796763 0.00101
NM_000552.5(VWF):c.4050G>A (p.Ala1350=) rs143459496 0.00056
NM_000552.5(VWF):c.1077C>T (p.Pro359=) rs71582884 0.00053
NM_000552.5(VWF):c.1614C>T (p.Pro538=) rs138268387 0.00046
NM_000552.5(VWF):c.1107C>G (p.Thr369=) rs149640698 0.00042
NM_000552.5(VWF):c.4173A>G (p.Gln1391=) rs145009516 0.00039
NM_000552.5(VWF):c.1410C>T (p.Asp470=) rs111867665 0.00038
NM_000552.5(VWF):c.21C>T (p.Ala7=) rs144128523 0.00019
NM_000552.5(VWF):c.3291C>T (p.Cys1097=) rs149895348 0.00019
NM_000552.5(VWF):c.8325T>C (p.Ser2775=) rs138588762 0.00019
NM_000552.5(VWF):c.2943C>T (p.Ser981=) rs369031938 0.00012
NM_000552.5(VWF):c.6069G>A (p.Thr2023=) rs375810839 0.00009
NM_000552.5(VWF):c.3978C>T (p.His1326=) rs568918496 0.00008
NM_000552.5(VWF):c.609A>G (p.Ala203=) rs757836378 0.00006
NM_000552.5(VWF):c.1515C>T (p.Arg505=) rs377198574 0.00005
NM_000552.5(VWF):c.6015C>T (p.Ile2005=) rs575042694 0.00004
NM_000552.5(VWF):c.1668C>T (p.His556=) rs531761442 0.00003
NM_000552.5(VWF):c.4800G>A (p.Ala1600=) rs201264909 0.00002
NM_000552.5(VWF):c.1869C>T (p.Cys623=) rs61754017 0.00001
NM_000552.5(VWF):c.2295A>G (p.Leu765=)
NM_000552.5(VWF):c.2610C>T (p.Ile870=)
NM_000552.5(VWF):c.3303C>T (p.Cys1101=)
NM_000552.5(VWF):c.3735G>A (p.Val1245=)
NM_000552.5(VWF):c.4131C>T (p.Ala1377=)
NM_000552.5(VWF):c.4458G>A (p.Ser1486=)
NM_000552.5(VWF):c.4824C>T (p.Thr1608=) rs142635883
NM_000552.5(VWF):c.5004G>A (p.Arg1668=) rs61750597
NM_000552.5(VWF):c.7083C>G (p.Ala2361=)
NM_000552.5(VWF):c.7392C>T (p.Arg2464=)
NM_000552.5(VWF):c.7707G>A (p.Ala2569=)

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.