ClinVar Miner

List of variants reported as pathogenic for Parkinson disease by Baylor Genetics

Included ClinVar conditions (41):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_032409.3(PINK1):c.1474C>T (p.Arg492Ter) rs34208370 0.00004
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_001256864.2(DNAJC6):c.988C>T (p.Arg330Ter) rs1645867120
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
NM_022089.4(ATP13A2):c.348-9_351del rs749798211

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