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

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_003846.3(PEX11B):c.1A>G (p.Met1Val)	rs782262926	0.00001
NM_003846.3(PEX11B):c.2T>G (p.Met1Arg)	rs782342783	0.00001
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter)	rs781984979	0.00001
NM_003846.3(PEX11B):c.11G>A (p.Trp4Ter)
NM_003846.3(PEX11B):c.124C>T (p.Gln42Ter)
NM_003846.3(PEX11B):c.148_149del (p.Ser50fs)
NM_003846.3(PEX11B):c.172+1G>A
NM_003846.3(PEX11B):c.278_281del (p.Arg93fs)
NM_003846.3(PEX11B):c.308del (p.Leu103fs)

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