ClinVar Miner

List of variants in gene PEX6 studied for Peroxisome biogenesis disorder 1A (Zellweger)

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Total variants: 11
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HGVS dbSNP
NM_000287.3(PEX6):c.-39G>A rs76974379
NM_000287.3(PEX6):c.-55C>T rs9462859
NM_000287.3(PEX6):c.-62C>A rs886061413
NM_000287.3(PEX6):c.-71C>G rs886061414
NM_000287.3(PEX6):c.-79C>T rs186587060
NM_000287.4(PEX6):c.*438_*441TAAA[1] rs144286892
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser) rs1244339215
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln) rs61753229
NM_000287.4(PEX6):c.2877A>G (p.Gln959=) rs562040179
NM_000287.4(PEX6):c.690G>A (p.Glu230=) rs368341252

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