ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as likely benign for Von Hippel-Lindau syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000551.3(VHL):c.*1465C>A rs183067022
NM_000551.3(VHL):c.*1960G>A rs9822696
NM_000551.3(VHL):c.*3492_*3493dup rs112494627
NM_000551.3(VHL):c.*523del rs546118793
NM_000551.3(VHL):c.*823G>A rs7629500
NM_000551.3(VHL):c.341-21_341-17del rs869025639
NM_000551.3(VHL):c.341-5G>A rs372340900
NM_000551.3(VHL):c.341-6C>T rs191201783
NM_000551.3(VHL):c.345C>T (p.His115=) rs864622646
NM_000551.3(VHL):c.375C>T (p.His125=) rs863224372
NM_000551.3(VHL):c.463+37_463+39del rs869025658
NM_000551.3(VHL):c.538A>G (p.Ile180Val) rs377715747
NM_000551.3(VHL):c.544A>G (p.Arg182Gly) rs778205243
NM_000551.3(VHL):c.549G>A (p.Ser183=) rs193922614
NM_000551.3(VHL):c.552C>T (p.Leu184=) rs779157605
NM_000551.3(VHL):c.599G>A (p.Arg200Gln) rs754016774
NM_000551.3(VHL):c.631A>C (p.Met211Leu) rs200019083
NM_000551.4(VHL):c.463+8C>T rs5030834
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_198156.3(VHL):c.*923_*927GTTTT[5] rs544983652

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.