ClinVar Miner

List of variants reported as likely pathogenic for Peroxisome biogenesis disorder 11A (Zellweger) by Invitae

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) rs373118250 0.00005
NM_002618.4(PEX13):c.787+1G>A rs2104803776
NM_002618.4(PEX13):c.92+1G>A
NM_002618.4(PEX13):c.93-1G>A

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