ClinVar Miner

List of variants reported as uncertain significance for Peroxisome biogenesis disorder 9B by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NC_000006.12:g.(?_136821564)_(136914934_?)dup rs0
NM_000288.4(PEX7):c.116A>G (p.His39Arg) rs0
NM_000288.4(PEX7):c.128C>T (p.Ala43Val) rs0
NM_000288.4(PEX7):c.188+3A>G rs200234391
NM_000288.4(PEX7):c.203A>T (p.Asp68Val) rs763388501
NM_000288.4(PEX7):c.244G>A (p.Val82Ile) rs0
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys) rs0
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291
NM_000288.4(PEX7):c.904-4C>G rs0

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.