ClinVar Miner

List of variants reported as benign for autosomal recessive juvenile Parkinson disease 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.*2480C>A rs68121389 0.37695
NM_004562.3(PRKN):c.*2021G>A rs1122470 0.12415
NM_004562.3(PRKN):c.*652C>T rs71653629 0.11674
NM_004562.3(PRKN):c.*1296A>G rs3734464 0.08312
NM_004562.3(PRKN):c.500G>A (p.Ser167Asn) rs1801474 0.05277
NM_004562.3(PRKN):c.*2492A>G rs117341007 0.04051
NM_004562.3(PRKN):c.*320C>A rs71653628 0.03819
NM_004562.3(PRKN):c.111G>A (p.Pro37=) rs77795533 0.03342
NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn) rs1801334 0.02570
NM_004562.3(PRKN):c.*820A>T rs74701717 0.02439
NM_004562.3(PRKN):c.574A>C (p.Met192Leu) rs9456735 0.01850
NM_004562.3(PRKN):c.957T>C (p.Gly319=) rs144340740 0.01025
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr) rs75860381 0.00621
NM_004562.3(PRKN):c.458C>G (p.Pro153Arg) rs55654276 0.00452
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu) rs149953814 0.00223
NM_004562.3(PRKN):c.1096C>T (p.Arg366Trp) rs56092260 0.00012
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu) rs1801582

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.