ClinVar Miner

List of variants reported as pathogenic for Pyridoxal phosphate-responsive seizures by Center of Excellence for Medical Genomics, Chulalongkorn University

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_018129.3(PNPO):c.620delG
NM_018129.4(PNPO):c.546+1G>A

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