ClinVar Miner

List of variants in gene PINK1 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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_032409.3(PINK1):c.952A>T (p.Met318Leu) rs139226733 0.00093
NM_032409.3(PINK1):c.851C>A (p.Ser284Tyr) rs113092523 0.00056
NM_032409.3(PINK1):c.626C>T (p.Pro209Leu) rs34677717 0.00020
NM_032409.3(PINK1):c.587C>T (p.Pro196Leu) rs138302371 0.00017
NM_032409.3(PINK1):c.695C>T (p.Ala232Val) rs144071530 0.00016
NM_032409.3(PINK1):c.745T>G (p.Leu249Val) rs145650643 0.00009
NM_032409.3(PINK1):c.835C>T (p.Arg279Cys) rs61735932 0.00008
NM_032409.3(PINK1):c.949G>A (p.Val317Ile) rs200949139 0.00008
NM_032409.3(PINK1):c.1488G>A (p.Lys496=) rs56217826 0.00007
NM_032409.3(PINK1):c.565G>A (p.Gly189Arg) rs757581951 0.00007
NM_032409.3(PINK1):c.802C>G (p.Leu268Val) rs372280083 0.00005
NM_032409.3(PINK1):c.620G>A (p.Arg207Gln) rs759468742 0.00004
NM_032409.3(PINK1):c.865C>A (p.Pro289Thr) rs777088052 0.00004
NM_032409.3(PINK1):c.857C>T (p.Pro286Leu) rs146691996 0.00002
NM_032409.3(PINK1):c.959+4A>T rs758604046 0.00002
NM_032409.3(PINK1):c.1123+4G>C rs760845466 0.00001
NM_032409.3(PINK1):c.1251+5G>A rs756873744 0.00001
NM_032409.3(PINK1):c.1573G>A (p.Asp525Asn) rs531477772 0.00001
NM_032409.3(PINK1):c.371C>T (p.Ala124Val) rs1274588239 0.00001
NM_032409.3(PINK1):c.388-10C>G rs763983499 0.00001
NM_032409.3(PINK1):c.1220G>A (p.Arg407Gln) rs556540177

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.