ClinVar Miner

List of variants studied for autosomal recessive juvenile Parkinson disease 2 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr) rs747427602 0.00002
GRCh37/hg19 6q26(chr6:162137107-162137163)

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