ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 4A (Zellweger) by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.160_243del (p.Val54_Leu81del) rs1770436260
NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro) rs267608247

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