ClinVar Miner

List of variants in gene PEX13 reported as likely pathogenic for Peroxisome biogenesis disorder 11A (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)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp)	rs373118250	0.00005
NM_002618.4(PEX13):c.787+1G>A	rs2104803776
NM_002618.4(PEX13):c.93-1G>A

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