List of variants in gene PEX3 reported as pathogenic for peroxisome biogenesis disorder due to PEX3 defect

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_003630.3(PEX3):c.898C>T (p.Arg300Ter)	rs201179294	0.00001
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg)	rs1057523689	0.00001
NM_003630.3(PEX3):c.292_302del (p.Ser98fs)	rs748689554
NM_003630.3(PEX3):c.543dup (p.Val182fs)	rs62641230
NM_003630.3(PEX3):c.942-8T>G	rs267608193

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