List of variants studied for Peroxisome biogenesis disorder 4A (Zellweger) by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	rs34324426	0.00294
NM_000287.4(PEX6):c.2663G>A (p.Arg888His)	rs267608247	0.00004
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)	rs267608239	0.00001
NM_000287.4(PEX6):c.1220C>A (p.Thr407Asn)	rs886043987
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)	rs267608216
NM_000287.4(PEX6):c.882+1G>A	rs267608207

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