ClinVar Miner

List of variants reported as likely pathogenic for Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564

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