ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 11B

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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.367G>T (p.Glu123Ter) rs2104803395
NM_002618.4(PEX13):c.937T>G (p.Trp313Gly) rs61752113
NM_002618.4(PEX13):c.977T>C (p.Ile326Thr) rs61752115

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