ClinVar Miner

List of variants in gene MIR6084, PINK1 studied for basal ganglia disorder

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 16
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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.502G>C (p.Ala168Pro) rs768091663 0.00002
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)

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