ClinVar Miner

List of variants in gene PEX19 reported as pathogenic for Peroxisome biogenesis disorder 12A

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Total variants: 2
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HGVS dbSNP
NM_002857.3(PEX19):c.320del (p.Lys107fs)
NM_002857.3(PEX19):c.763dup (p.Met255fs)

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