List of variants studied for Peroxisome biogenesis disorder 4A (Zellweger) by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)	rs62641232	0.00003
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala)	rs1561823098
NM_000287.4(PEX6):c.1415del (p.Pro472fs)	rs267608219
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln)	rs375288192
NM_000287.4(PEX6):c.2705T>C (p.Leu902Pro)	rs1769687594

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