ClinVar Miner

List of variants reported as risk factor for Parkinson disease by OMIM

Included ClinVar conditions (41):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000669.5(ADH1C):c.232G>T (p.Gly78Ter) rs283413 0.00935
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) rs75671029 0.00236
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348 0.00058
NM_001103146.3(GIGYF2):c.167A>G (p.Asn56Ser) rs72554080 0.00033
NM_001103146.3(GIGYF2):c.1370A>C (p.Asn457Thr) rs116074753 0.00032
NM_001103146.3(GIGYF2):c.1262A>G (p.Lys421Arg) rs115735611 0.00016
NM_198241.3(EIF4G1):c.3614G>A (p.Arg1205His) rs112176450 0.00016
NM_198241.3(EIF4G1):c.1505C>T (p.Ala502Val) rs111290936 0.00013
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_001103146.3(GIGYF2):c.832A>G (p.Ile278Val) rs118203904 0.00006
NM_013247.5(HTRA2):c.427C>G (p.Pro143Ala) rs387906942 0.00001
NG_008165.1:g.12526CAR[46_?]
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_001103146.3(GIGYF2):c.1818C>G (p.Asp606Glu) rs118203903
NM_001377265.1(MAPT):c.2060ATA[1] (p.Asn688del) rs63751392
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?]) rs1885090126
NM_004181.5(UCHL1):c.279C>G (p.Ile93Met) rs121917767
NM_004993.6(ATXN3):c.892CAG[8_36] rs193922928
NM_032409.3(PINK1):c.1291T>C (p.Tyr431His) rs74315361
NR_002717.2(ATXN8OS):n.1103CTG[(107_127)]
m.12397A>G rs1556424100
m.14319T>C rs199476110
m.15950G>A rs118203890
m.15965A>G rs199474700

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.