ClinVar Miner

List of variants in gene PEX16 reported as uncertain significance for Peroxisome biogenesis disorder 1A (Zellweger)

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004813.2(PEX16):c.-184A>G rs745333570 0.00051
NM_004813.2(PEX16):c.-164G>T rs773746164 0.00028
NM_004813.4(PEX16):c.*341C>T rs559300237 0.00006
NM_004813.2(PEX16):c.-265C>T rs886048330
NM_004813.2(PEX16):c.-290C>G rs886048331
NM_004813.2(PEX16):c.-305C>T rs886048332
NM_004813.2(PEX16):c.-67C>A rs886048329
NM_004813.4(PEX16):c.628C>T (p.Pro210Ser) rs754114296

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