ClinVar Miner

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

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Total variants: 4
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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.1415del (p.Pro472fs) rs267608219
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln) rs375288192
NM_000287.4(PEX6):c.2705T>C (p.Leu902Pro)

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