ClinVar Miner

List of variants in gene VHL reported as pathogenic for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 95
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) rs193922608 0.00001
NM_000551.4(VHL):c.292T>C (p.Tyr98His) rs5030809 0.00001
NC_000003.11:g.(?_10180443)_(10183830_?)del
NC_000003.11:g.(?_10183532)_(10188330_?)del
NC_000003.11:g.(?_10183579)_(10185909_?)del
NC_000003.11:g.(?_10184445)_(10188340_?)del
NC_000003.12:g.(?_10141635)_(10142187_?)del
NC_000003.12:g.(?_10141828)_(10146656_?)del
NC_000003.12:g.(?_10141838)_(10142197_?)del
NC_000003.12:g.(?_10141848)_(10142197_?)del
NC_000003.12:g.(?_10141848)_(10143024_?)del
NC_000003.12:g.(?_10146504)_(10150035_?)del
NC_000003.12:g.(?_10149777)_(10150035_?)del
NM_000551.4(VHL):c.163dup (p.Glu55fs) rs869025615
NM_000551.4(VHL):c.164_171dup (p.Arg60fs) rs886041345
NM_000551.4(VHL):c.179_192del (p.Arg60fs) rs1064796408
NM_000551.4(VHL):c.180del (p.Val62fs) rs730882037
NM_000551.4(VHL):c.182_183del (p.Pro61fs)
NM_000551.4(VHL):c.184del (p.Val62fs)
NM_000551.4(VHL):c.189_193dup (p.Ser65fs)
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.4(VHL):c.191dup (p.Ser65fs)
NM_000551.4(VHL):c.193T>A (p.Ser65Thr) rs869025616
NM_000551.4(VHL):c.194C>A (p.Ser65Ter) rs5030826
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) rs5030826
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000551.4(VHL):c.202T>C (p.Ser68Pro)
NM_000551.4(VHL):c.203C>A (p.Ser68Ter) rs869025617
NM_000551.4(VHL):c.204dup (p.Arg69fs)
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.209A>G (p.Glu70Gly) rs786202857
NM_000551.4(VHL):c.214T>C (p.Ser72Pro) rs869025618
NM_000551.4(VHL):c.217C>T (p.Gln73Ter) rs869025619
NM_000551.4(VHL):c.222C>A (p.Val74=) rs759737367
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.226_227del (p.Phe76fs) rs1060503552
NM_000551.4(VHL):c.231C>A (p.Cys77Ter)
NM_000551.4(VHL):c.232A>G (p.Asn78Asp) rs869025621
NM_000551.4(VHL):c.233A>C (p.Asn78Thr) rs5030804
NM_000551.4(VHL):c.233A>G (p.Asn78Ser) rs5030804
NM_000551.4(VHL):c.238A>G (p.Ser80Gly) rs786202787
NM_000551.4(VHL):c.239G>A (p.Ser80Asn) rs5030805
NM_000551.4(VHL):c.239G>T (p.Ser80Ile) rs5030805
NM_000551.4(VHL):c.241_244dup (p.Arg82fs) rs2125125103
NM_000551.4(VHL):c.244C>G (p.Arg82Gly) rs1214305423
NM_000551.4(VHL):c.244_259dup (p.Val87fs) rs2125125105
NM_000551.4(VHL):c.245G>T (p.Arg82Leu) rs794726890
NM_000551.4(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.4(VHL):c.250G>C (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.250G>T (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.256C>G (p.Pro86Ala) rs398123481
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.4(VHL):c.257C>T (p.Pro86Leu) rs730882034
NM_000551.4(VHL):c.258del (p.Val87fs) rs864622545
NM_000551.4(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.262T>C (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.263G>A (p.Trp88Ter) rs119103277
NM_000551.4(VHL):c.264G>A (p.Trp88Ter) rs869025622
NM_000551.4(VHL):c.264G>C (p.Trp88Cys) rs869025622
NM_000551.4(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.4(VHL):c.264_267dup (p.Asn90fs) rs1696134947
NM_000551.4(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.4(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000551.4(VHL):c.278G>A (p.Gly93Asp) rs1553619440
NM_000551.4(VHL):c.280G>T (p.Glu94Ter) rs5030829
NM_000551.4(VHL):c.291_292delinsAC (p.Tyr98His)
NM_000551.4(VHL):c.291_302del (p.Tyr98_Leu101del) rs1575922296
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys) rs864321643
NM_000551.4(VHL):c.298del (p.Thr100fs) rs2125125269
NM_000551.4(VHL):c.305dup (p.Pro103fs)
NM_000551.4(VHL):c.310_311insC (p.Gly104fs)
NM_000551.4(VHL):c.314del (p.Thr105fs)
NM_000551.4(VHL):c.314dup (p.Arg107fs) rs2125125325
NM_000551.4(VHL):c.319C>A (p.Arg107Ser)
NM_000551.4(VHL):c.320G>A (p.Arg107His) rs193922609
NM_000551.4(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.4(VHL):c.329del (p.His110fs) rs1559426199
NM_000551.4(VHL):c.329dup (p.His110fs)
NM_000551.4(VHL):c.330_331delinsTT (p.Ser111Cys)
NM_000551.4(VHL):c.331A>G (p.Ser111Gly) rs1559426203
NM_000551.4(VHL):c.331A>T (p.Ser111Cys) rs1559426203
NM_000551.4(VHL):c.332G>A (p.Ser111Asn) rs869025631
NM_000551.4(VHL):c.333C>G (p.Ser111Arg) rs765978945
NM_000551.4(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000551.4(VHL):c.336C>G (p.Tyr112Ter) rs751232153
NM_000551.4(VHL):c.337C>T (p.Arg113Ter) rs5030810
NM_000551.4(VHL):c.339_340+5del rs1575922562
NM_000551.4(VHL):c.340+1G>A rs730882032
NM_000551.4(VHL):c.340+1G>C rs730882032
NM_000551.4(VHL):c.340+2T>G
NM_000551.4(VHL):c.340G>A (p.Gly114Ser) rs869025636
NM_000551.4(VHL):c.340G>C (p.Gly114Arg) rs869025636

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.