ClinVar Miner

List of variants reported as pathogenic for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

Included ClinVar conditions (2):

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_005859.5(PURA):c.534_556dup (p.Gln186fs)	rs1763049807

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