ClinVar Miner

List of variants reported as pathogenic for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005859.5(PURA):c.159dup (p.Leu54fs) rs1554129040
NM_005859.5(PURA):c.362dup (p.Tyr121Ter) rs2126748969
NM_005859.5(PURA):c.531del (p.Pro178fs) rs2126749210
NM_005859.5(PURA):c.572C>T (p.Pro191Leu) rs1064795165
NM_005859.5(PURA):c.62del (p.Leu21fs)

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