List of variants reported as pathogenic for Peroxisome biogenesis disorder 14B

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter)	rs781939614	0.00004
NM_003846.3(PEX11B):c.766C>T (p.Arg256Ter)	rs782188850	0.00003
NM_003846.3(PEX11B):c.1A>G (p.Met1Val)	rs782262926	0.00001
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter)	rs781984979	0.00001
NM_003846.3(PEX11B):c.64C>T (p.Gln22Ter)	rs397515419	0.00001

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