ClinVar Miner

List of variants studied for autosomal recessive juvenile Parkinson disease 2 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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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.101_102del (p.Gln34fs) rs55777503 0.00027
NM_004562.3(PRKN):c.488G>A (p.Arg163Lys)

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