List of variants reported as uncertain significance for peroxisomal disease by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)	rs144942544	0.00217
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)	rs149287302	0.00190
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)	rs201455322	0.00114
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn)	rs146567534	0.00047
NM_000318.3(PEX2):c.769A>G (p.Ile257Val)	rs199874465	0.00007
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val)	rs367799134	0.00005
NM_004035.7(ACOX1):c.1772G>A (p.Arg591His)	rs369561903	0.00003
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)	rs200849757	0.00001
NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys)	rs553001596

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