List of variants studied for peroxisomal disease by Centogene AG - the Rare Disease Company

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr)	rs202195978	0.00088
NM_000287.4(PEX6):c.1606C>T (p.Arg536Trp)	rs368752843	0.00012
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)	rs61753219	0.00003
NM_000318.3(PEX2):c.-17-2A>G	rs1289852067	0.00001
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)	rs180177195
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	rs61750415
NM_003659.4(AGPS):c.1363-2A>T	rs746449593

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