ClinVar Miner

List of variants reported as benign for juvenile-onset Parkinson disease by Genome-Nilou Lab

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.1195+66A>G rs9435736 0.80687
NM_001256864.2(DNAJC6):c.2010A>C (p.Pro670=) rs4582839 0.69474
NM_001256864.2(DNAJC6):c.194-21G>T rs2296478 0.58031
NM_001256864.2(DNAJC6):c.194-19T>G rs2296479 0.57220
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=) rs2076603 0.55111
NM_001256864.2(DNAJC6):c.1500G>A (p.Glu500=) rs4325172 0.44325
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=) rs761421 0.41522
NM_022089.4(ATP13A2):c.3236-30C>T rs2076605 0.41484
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=) rs9435659 0.40884
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) rs3170740 0.40860
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=) rs9435662 0.40757
NM_001256864.2(DNAJC6):c.544-9C>T rs2296481 0.25003
NM_022089.4(ATP13A2):c.3084-3C>T rs7531163 0.23688
NM_001256864.2(DNAJC6):c.2183G>A (p.Ser728Asn) rs4915691 0.20494
NM_001256864.2(DNAJC6):c.1983T>C (p.Ser661=) rs12077111 0.17885
NM_001256864.2(DNAJC6):c.1506C>T (p.His502=) rs11208644 0.17883
NM_001256864.2(DNAJC6):c.194-20_194-19insG rs111346712 0.03019
NM_001256864.2(DNAJC6):c.678G>A (p.Ala226=) rs61753391 0.01829
NM_001256864.2(DNAJC6):c.1710G>A (p.Pro570=) rs7551930 0.01341
NM_001256864.2(DNAJC6):c.1320A>T (p.Thr440=) rs142136708 0.00462
NM_001256864.2(DNAJC6):c.745A>G (p.Ile249Val) rs149588872 0.00357
NM_001256864.2(DNAJC6):c.194-6del rs58549467

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.