List of variants reported as pathogenic for Peroxisome biogenesis disorder 7B

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)	rs62641228	0.00008
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)	rs61752132
NM_001127649.3(PEX26):c.254dup (p.Cys86fs)	rs61752133
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr)	rs74315506
NM_001127649.3(PEX26):c.34dup (p.Leu12fs)	rs61752129

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