ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as likely pathogenic by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.341-25_370dup rs1553619923 0.00001
NM_000551.4(VHL):c.358A>G (p.Arg120Gly) rs869025642
NM_000551.4(VHL):c.381_382delinsTT (p.Leu128Phe) rs869025645
NM_000551.4(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.4(VHL):c.419_427delinsACAATTATTTGTGCCATCTCTCAA (p.Leu140_Asp143delinsHisAsnTyrLeuCysHisLeuSerAsn) rs1559428180
NM_000551.4(VHL):c.430G>T (p.Gly144Ter) rs869025650
NM_000551.4(VHL):c.471dup (p.Leu158fs) rs869025661
NM_000551.4(VHL):c.486C>A (p.Cys162Ter) rs5030622
NM_000551.4(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.4(VHL):c.496_506del (p.Val166fs) rs869025663
NM_000551.4(VHL):c.500G>C (p.Arg167Pro) rs5030821
NM_000551.4(VHL):c.547del (p.Ser183fs) rs1559429778
NM_000551.4(VHL):c.563T>A (p.Leu188Gln) rs1559429824
NM_000551.4(VHL):c.563T>C (p.Leu188Pro) rs1559429824
NM_000551.4(VHL):c.565del (p.Glu189fs) rs1559429829
NM_000551.4(VHL):c.587_590dup (p.Asp197fs) rs869025666
NM_000551.4(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000551.4(VHL):c.641G>T (p.Ter214Leu) rs869025668
NM_000551.4(VHL):c.642A>G (p.Ter214Trp) rs1559430011
NM_000551.4(VHL):c.642A>T (p.Ter214Cys) rs1559430011

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.