ClinVar Miner

List of variants reported as likely pathogenic for Peroxisome biogenesis disorder 4A (Zellweger) by Illumina Laboratory Services, Illumina

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Total variants: 3

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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.1801C>T (p.Arg601Trp)	rs61753225	0.00001
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro)	rs61752140

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