ClinVar Miner

List of variants in gene PEX1 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (961):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP
NC_000007.14:g.(?_92509319)_(92509421_?)del
NM_000466.3(PEX1):c.1108dup (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1126del (p.Glu376fs)
NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter)
NM_000466.3(PEX1):c.1239+1G>T rs756876301
NM_000466.3(PEX1):c.130-1G>T
NM_000466.3(PEX1):c.130-2A>G
NM_000466.3(PEX1):c.1483+1G>A
NM_000466.3(PEX1):c.1714_1715CA[1] (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1727dup (p.Arg577fs)
NM_000466.3(PEX1):c.1817C>G (p.Ser606Ter)
NM_000466.3(PEX1):c.1906_2064del (p.Arg636_Leu688del) rs1554372074
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.2032_2033CA[1] (p.His678fs) rs61750412
NM_000466.3(PEX1):c.2085_2089del (p.Met695fs)
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter) rs61750417
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418
NM_000466.3(PEX1):c.2387_2388TC[2] (p.Arg798fs) rs61750414
NM_000466.3(PEX1):c.2471del (p.Ala824fs)
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) rs61750422
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423
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.358-1G>T rs1057517479
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)
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.721del (p.Ser241fs) rs894289737
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142
PEX1, 1-BP DEL, 2916A

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.