ClinVar Miner

List of variants in gene PEX16 reported as benign for Peroxisome biogenesis disorder 8A (Zellweger)

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004813.4(PEX16):c.346G>A (p.Val116Ile) rs10742772 0.99994
NM_004813.4(PEX16):c.542-16C>T rs3802758 0.80104
NM_004813.4(PEX16):c.873T>C (p.Tyr291=) rs1132349 0.79011
NM_004813.4(PEX16):c.*303C>T rs10838529 0.53226
NM_004813.4(PEX16):c.303C>T (p.Ala101=) rs80275010 0.02501
NM_004813.4(PEX16):c.*438C>T rs2280328 0.02139
NM_004813.4(PEX16):c.307G>A (p.Val103Met) rs11553094 0.01821
NM_004813.4(PEX16):c.760G>C (p.Val254Leu) rs35214605 0.01652
NM_004813.4(PEX16):c.*158A>C rs79435202 0.01440
NM_004813.4(PEX16):c.*376G>C rs143868125

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