List of variants reported as pathogenic for Peroxisome biogenesis disorder 4A (Zellweger)

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)	rs61753219	0.00003
NM_000287.4(PEX6):c.1962-1G>A	rs267608229	0.00002
NM_000287.4(PEX6):c.510_511del (p.Asp172fs)	rs61753211	0.00001
NM_000287.4(PEX6):c.1130+1G>A	rs267608213
NM_000287.4(PEX6):c.1301del (p.Ser434fs)	rs62641231
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)	rs267608216
NM_000287.4(PEX6):c.1688+1G>A	rs112298166
NM_000287.4(PEX6):c.1947del (p.Ile650fs)	rs267608227
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs)	rs62653602
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp)	rs61753230
NM_000287.4(PEX6):c.2665A>G (p.Lys889Glu)
NM_000287.4(PEX6):c.510dup (p.Gly171fs)	rs1491384052
NM_000287.4(PEX6):c.882+1G>A	rs267608207

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