ClinVar Miner

List of variants reported as likely benign for adult Refsum disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_000288.4(PEX7):c.-31G>A rs115866467
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_006214.4(PHYH):c.1010_1012dup (p.Leu338_Ter339insHis) rs566116760
NM_006214.4(PHYH):c.126A>G (p.Gln42=) rs150631501
NM_006214.4(PHYH):c.321G>A (p.Ser107=) rs115198308
NM_006214.4(PHYH):c.415-11del rs140309981
NM_006214.4(PHYH):c.678+15C>T rs140995522
NM_006214.4(PHYH):c.717C>T (p.Tyr239=) rs142720126
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169

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.