ClinVar Miner

Submissions for variant NM_032409.3(PINK1):c.1311G>A (p.Trp437Ter)

gnomAD frequency: 0.00001  dbSNP: rs74315356
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002507 SCV000022665 pathogenic Autosomal recessive early-onset Parkinson disease 6 2008-09-01 no assertion criteria provided literature only

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