ClinVar Miner

List of variants reported as benign for Peroxisome biogenesis disorder 2A (Zellweger) by Illumina Laboratory Services, Illumina

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001351132.2(PEX5):c.*755C>G rs1057225 0.44145
NM_001351132.2(PEX5):c.*141G>A rs3813737 0.14722
NM_001351132.2(PEX5):c.-17+290T>A rs113752912 0.07875
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_001351132.2(PEX5):c.*75G>A rs112966367 0.01593
NM_001351132.2(PEX5):c.*960C>G rs78134587 0.01032
NM_001351132.2(PEX5):c.998G>A (p.Arg333His) rs59209175 0.00776
NM_001351132.2(PEX5):c.1632G>A (p.Ala544=) rs115338343 0.00644
NM_001351132.2(PEX5):c.*628G>A rs12316371
NM_001351132.2(PEX5):c.*628G>C rs12316371
NM_001351132.2(PEX5):c.-20C>G rs12227917

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