List of variants in gene PEX2 reported as uncertain significance for Peroxisome biogenesis disorder 5A (Zellweger); Peroxisome biogenesis disorder 5B

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)	rs149287302	0.00190
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser)	rs140963177	0.00046
NM_000318.3(PEX2):c.769A>G (p.Ile257Val)	rs199874465	0.00007
NM_000318.3(PEX2):c.-17-2A>G	rs1289852067	0.00001
NM_000318.3(PEX2):c.482G>A (p.Gly161Glu)	rs761177481	0.00001
NM_000318.3(PEX2):c.782A>G (p.His261Arg)	rs749956542	0.00001
NM_000318.3(PEX2):c.916T>C (p.Ter306Gln)	rs1554584372	0.00001
NM_000318.3(PEX2):c.349GAA[1] (p.Glu118del)	rs1554584507
NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla)	rs1554584423
NM_000318.3(PEX2):c.857_859del (p.Glu286del)	rs1460738027
NM_000318.3(PEX2):c.884C>G (p.Ser295Ter)	rs1554584377

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