List of variants in gene PEX5 reported as benign for Peroxisome biogenesis disorder 2A (Zellweger)

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001351132.2(PEX5):c.*755C>G	rs1057225	0.44145
NM_001351132.2(PEX5):c.967-26C>G	rs3816424	0.29645
NM_001351132.2(PEX5):c.*141G>A	rs3813737	0.14722
NM_001351132.2(PEX5):c.-17+290T>A	rs113752912	0.07875
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr)	rs76708142	0.02223
NM_001351132.2(PEX5):c.*75G>A	rs112966367	0.01593
NM_001351132.2(PEX5):c.*960C>G	rs78134587	0.01032
NM_001351132.2(PEX5):c.998G>A (p.Arg333His)	rs59209175	0.00776
NM_001351132.2(PEX5):c.1632G>A (p.Ala544=)	rs115338343	0.00644
NM_001351132.2(PEX5):c.*628G>A	rs12316371
NM_001351132.2(PEX5):c.*628G>C	rs12316371
NM_001351132.2(PEX5):c.-20C>G	rs12227917
NM_001351132.2(PEX5):c.147+77_147+121del

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