ClinVar Miner

List of variants in gene VHL reported as likely pathogenic for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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.123_126del (p.Glu41fs) rs2125124755
NM_000551.4(VHL):c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC (p.Glu46fs) rs2125124781
NM_000551.4(VHL):c.188T>G (p.Leu63Arg)
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.214T>C (p.Ser72Pro) rs869025618
NM_000551.4(VHL):c.226T>A (p.Phe76Ile) rs1559425911
NM_000551.4(VHL):c.226T>C (p.Phe76Leu)
NM_000551.4(VHL):c.232A>T (p.Asn78Tyr) rs869025621
NM_000551.4(VHL):c.236G>C (p.Arg79Pro)
NM_000551.4(VHL):c.238A>G (p.Ser80Gly) rs786202787
NM_000551.4(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.4(VHL):c.251T>A (p.Val84Glu)
NM_000551.4(VHL):c.263_265dup (p.Trp88_Leu89insArg) rs1131690960
NM_000551.4(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.4(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.4(VHL):c.269A>T (p.Asn90Ile) rs143985153
NM_000551.4(VHL):c.277G>C (p.Gly93Arg) rs5030808
NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val) rs1559426072
NM_000551.4(VHL):c.287A>C (p.Gln96Pro) rs1559426089
NM_000551.4(VHL):c.291_296del (p.Tyr98_Pro99del) rs1575922271
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.4(VHL):c.302T>A (p.Leu101Gln)
NM_000551.4(VHL):c.302T>C (p.Leu101Pro) rs1553619456
NM_000551.4(VHL):c.302T>G (p.Leu101Arg)
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.4(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.4(VHL):c.335_340+5del rs869025632

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.