List of variants in gene combination PEX13, PUS10 reported as pathogenic for Peroxisome biogenesis disorder 11A (Zellweger)

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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_002618.4(PEX13):c.46C>T (p.Arg16Ter)	rs1178588746	0.00001
NC_000002.11:g.(?_61244895)_(61275905_?)del
NM_002618.4(PEX13):c.20dup (p.Pro8fs)
NM_002618.4(PEX13):c.27del (p.Lys10fs)

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