ClinVar Miner

List of variants reported as likely pathogenic for Peroxisome biogenesis disorder 2B by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.1220CCT[1] (p.Ser408del)

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