ClinVar Miner

List of variants in gene PEX7 reported as uncertain significance by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.785C>T (p.Ser262Leu) rs62653610 0.00001
NM_000288.4(PEX7):c.-3G>A rs886061117
NM_000288.4(PEX7):c.-46_-38dup rs1554328233
NM_000288.4(PEX7):c.122G>T (p.Gly41Val) rs61753239
NM_000288.4(PEX7):c.225G>C (p.Trp75Cys) rs1554328961
NM_000288.4(PEX7):c.37_45dup (p.Arg13_Pro15dup) rs1554328282
NM_000288.4(PEX7):c.490T>C (p.Ser164Pro) rs62653607
NM_000288.4(PEX7):c.733A>T (p.Ile245Phe) rs750815894
NM_000288.4(PEX7):c.901C>T (p.Gln301Ter) rs374763007
NM_000288.4(PEX7):c.904-1G>A rs1413838301
NM_000288.4(PEX7):c.917del (p.Ser306fs) rs1554337182
NM_000288.4(PEX7):c.931del (p.Thr310_Ile311insTer) rs1554337188
NM_000288.4(PEX7):c.970T>G (p.Ter324Gly) rs988988279
NM_000288.4(PEX7):c.971G>C (p.Ter324Ser) rs374574552

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.