ClinVar Miner

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

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000466.3(PEX1):c.1108dup (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter)
NM_000466.3(PEX1):c.1239+1G>T rs756876301
NM_000466.3(PEX1):c.130-2A>G
NM_000466.3(PEX1):c.1906_2064del (p.Arg636_Leu688del)
NM_000466.3(PEX1):c.1908del (p.Arg636fs) rs1057517478
NM_000466.3(PEX1):c.1927del (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp) rs398123408
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter) rs61750417
NM_000466.3(PEX1):c.2471del (p.Ala824fs)
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928
NM_000466.3(PEX1):c.2T>G (p.Met1Arg) rs766020928
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142
PEX1, 1-BP DEL, 2916A

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