List of variants reported as pathogenic for Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger)

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000286.3(PEX12):c.126+1G>T	rs144259891	0.00003
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)	rs61752103	0.00003
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter)	rs61752105	0.00003
NM_000286.3(PEX12):c.744dup (p.Thr249fs)	rs61752108	0.00001
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)	rs61752106
NM_000286.3(PEX12):c.888_889del (p.Leu297fs)	rs398123301

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