List of variants in gene PEX7 reported as pathogenic by Genetic Services Laboratory, University of Chicago

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_000288.4(PEX7):c.875T>A (p.Leu292Ter)	rs1805137	0.00048
NM_000288.4(PEX7):c.903+1G>C	rs148591292	0.00011
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)	rs61753238	0.00010
NM_000288.4(PEX7):c.357G>A (p.Trp119Ter)	rs1554331461
NM_000288.4(PEX7):c.538del (p.Thr179_Leu180insTer)	rs1554333636

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