ClinVar Miner

List of variants reported as likely pathogenic for adult Refsum disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.363_526+230del
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000288.4(PEX7):c.736_747+17del rs1057517257
NM_006214.4(PHYH):c.135-2A>G rs201578674
NM_006214.4(PHYH):c.414+2T>C rs1554784939
NM_006214.4(PHYH):c.766_767del (p.Val256fs) rs797045100
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178

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.