List of variants reported as pathogenic for peroxisomal disease by Centogene AG - the Rare Disease Company

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)	rs61753219	0.00003
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)	rs180177195
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	rs61750415

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