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

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)	rs121908529	0.00067
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	rs61750420	0.00025
NM_000030.3(AGXT):c.847-3C>G	rs180177286	0.00003
NM_002617.4(PEX10):c.1A>G (p.Met1Val)	rs886041314	0.00002
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	rs34116584
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)	rs128624221
NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter)	rs201114595
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)	rs150346282
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)	rs267608216
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)	rs121909153
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)	rs764771123

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