ClinVar Miner

List of variants in gene PEX6 reported as uncertain significance for Peroxisome biogenesis disorder 1A (Zellweger)

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Total variants: 27
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HGVS dbSNP
NM_000287.3(PEX6):c.-39G>A rs76974379
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.*168C>T rs886061410
NM_000287.4(PEX6):c.*212C>T rs1051218
NM_000287.4(PEX6):c.*368G>A rs866465109
NM_000287.4(PEX6):c.*407T>G rs886061409
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915
NM_000287.4(PEX6):c.1110A>G (p.Gly370=) rs886061411
NM_000287.4(PEX6):c.1234-10C>T rs370661410
NM_000287.4(PEX6):c.1234-11A>G rs201879957
NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala) rs182308788
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308
NM_000287.4(PEX6):c.2700C>T (p.Asn900=) rs533766104
NM_000287.4(PEX6):c.2736G>A (p.Ala912=) rs202049230
NM_000287.4(PEX6):c.2877A>G (p.Gln959=) rs562040179
NM_000287.4(PEX6):c.2907G>C (p.Arg969=) rs145243129
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949
NM_000287.4(PEX6):c.295C>T (p.Arg99Trp) rs772383329
NM_000287.4(PEX6):c.503C>T (p.Pro168Leu) rs200026148
NM_000287.4(PEX6):c.690G>A (p.Glu230=) rs368341252
NM_000287.4(PEX6):c.718G>A (p.Ala240Thr) rs886061412
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220
NM_000287.4(PEX6):c.870G>C (p.Glu290Asp) rs150358700
NM_000287.4(PEX6):c.939T>C (p.Pro313=) rs151234121

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