List of variants studied for Peroxisome biogenesis disorder 4A (Zellweger) by Mendelics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)	rs35830695	0.07353
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)	rs115960224	0.00687
NM_000287.4(PEX6):c.510_511del (p.Asp172fs)	rs61753211	0.00001
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln)	rs374396138
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp)	rs61753230

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