ClinVar Miner

List of variants studied for juvenile-onset Parkinson disease by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001256864.2(DNAJC6):c.2570del (p.Pro857fs)
NM_022089.4(ATP13A2):c.1407_1428dup (p.Met477fs)
NM_022089.4(ATP13A2):c.514C>T (p.Arg172Cys)

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