List of variants reported as likely pathogenic for peroxisomal disease by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	rs34324426	0.00294
NM_000286.3(PEX12):c.681-2A>C	rs187526749	0.00010
NM_000033.4(ABCD1):c.22dup (p.Arg8fs)
NM_000033.4(ABCD1):c.900+2T>G	rs2091712381
NM_000287.4(PEX6):c.1262G>A (p.Trp421Ter)
NM_000288.4(PEX7):c.189-2A>G	rs1554328952

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