ClinVar Miner

List of variants in gene PEX1 reported as pathogenic for Zellweger syndrome

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Total variants: 14
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HGVS dbSNP
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1714_1715CA[1] (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp) rs398123408
NM_000466.3(PEX1):c.2330_2331delinsA (p.Gly777fs)
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418
NM_000466.3(PEX1):c.2468del (p.Pro823fs) rs766947924
NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter)
NM_000466.3(PEX1):c.249del (p.Lys83fs)
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter) rs1554375599
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142
NM_000466.3(PEX1):c.819_835delinsGTCT (p.Phe273fs)

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