List of variants in gene PEX1 reported as likely pathogenic by GeneDx

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)	rs61750418	0.00005
NM_000466.3(PEX1):c.721del (p.Ser241fs)	rs894289737	0.00003
NM_000466.3(PEX1):c.2071+1G>T	rs267608177	0.00001
NM_000466.3(PEX1):c.1131del (p.Asp378fs)	rs886043479
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer)	rs1398892633

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