List of variants reported as pathogenic for peroxisomal disease by Elsea Laboratory, Baylor College of Medicine

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	rs61750420	0.00025
NM_000287.4(PEX6):c.611C>G (p.Ser204Ter)	rs773056086	0.00001
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)	rs758055753
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	rs61750415
NM_003630.3(PEX3):c.292_302del (p.Ser98fs)	rs748689554

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