ClinVar Miner

List of variants in gene VPS45 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007259.5(VPS45):c.*4G>A rs116597770 0.00070
NM_007259.5(VPS45):c.487A>G (p.Thr163Ala) rs146014368 0.00046
NM_007259.5(VPS45):c.758C>T (p.Pro253Leu) rs143828923 0.00026
NM_007259.5(VPS45):c.625G>T (p.Val209Phe) rs201955039 0.00025
NM_007259.5(VPS45):c.-4C>T rs200563209 0.00023
NM_007259.5(VPS45):c.785T>C (p.Val262Ala) rs148174305 0.00008
NM_007259.5(VPS45):c.1267G>C (p.Val423Leu) rs201002467 0.00007
NM_007259.5(VPS45):c.888G>C (p.Lys296Asn) rs1315600520 0.00005
NM_007259.5(VPS45):c.369+8T>A rs201637627 0.00003
NM_007259.5(VPS45):c.200A>G (p.Lys67Arg) rs1348750495 0.00001
NM_007259.5(VPS45):c.229G>A (p.Glu77Lys) rs2101495514 0.00001
NM_007259.5(VPS45):c.898A>G (p.Lys300Glu) rs782739886 0.00001
NM_007259.5(VPS45):c.235G>A (p.Val79Met) rs1655111590
NM_007259.5(VPS45):c.536T>C (p.Leu179Pro) rs2101519785
NM_007259.5(VPS45):c.888G>A (p.Lys296=) rs1315600520

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.