List of variants in gene PEX5 reported as pathogenic for disorder of plasmalogens biosynthesis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter)	rs61752137	0.00003
NM_001351132.2(PEX5):c.1258C>T (p.Arg420Ter)	rs777735499	0.00001
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)	rs61752138
NM_001351132.2(PEX5):c.677dup (p.Val227fs)	rs796051881

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