ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 8B

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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.859C>T (p.Arg287Cys) rs769772100 0.00001
NM_004813.4(PEX16):c.679C>G (p.Arg227Gly)
NM_004813.4(PEX16):c.952+118_*82del
NM_004813.4(PEX16):c.952+3A>G
NM_004813.4(PEX16):c.984del (p.Ile330fs) rs1590793006
NM_004813.4(PEX16):c.992A>G (p.Tyr331Cys) rs397514472
NM_004813.4(PEX16):c.995_997del (p.Phe332del) rs797045062

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