ClinVar Miner

List of variants in gene MIR6084, PINK1 studied for Parkinson disease

Included ClinVar conditions (40):
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_032409.3(PINK1):c.189C>T (p.Leu63=) rs45530340 0.15436
NM_032409.3(PINK1):c.165G>A (p.Glu55=) rs537679886 0.00162
NM_032409.3(PINK1):c.218C>T (p.Ser73Leu) rs202048763 0.00070
NM_032409.3(PINK1):c.153A>G (p.Gly51=) rs967760539 0.00018
NM_032409.3(PINK1):c.177C>T (p.Val59=) rs766471374 0.00014
NM_032409.3(PINK1):c.139G>C (p.Gly47Arg) rs746940423 0.00004
NM_032409.3(PINK1):c.199C>T (p.Leu67Phe) rs763142730 0.00004
NM_032409.3(PINK1):c.141C>G (p.Gly47=) rs1167601739 0.00001
NM_032409.3(PINK1):c.161C>A (p.Ala54Glu) rs867771554 0.00001
NM_032409.3(PINK1):c.158G>A (p.Gly53Asp)
NM_032409.3(PINK1):c.170_175dup (p.Arg58_Val59insGlyArg)
NM_032409.3(PINK1):c.173G>A (p.Arg58Lys)
NM_032409.3(PINK1):c.184G>C (p.Gly62Arg)
NM_032409.3(PINK1):c.202C>T (p.Arg68Cys)
NM_032409.3(PINK1):c.203_204delinsCT (p.Arg68Pro)

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.