ClinVar Miner

List of variants studied for Familial X-linked hypophosphatemic vitamin D refractory rickets by Integrated Genetics/Laboratory Corporation of America

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_000444.6(PHEX):c.1404+2T>G rs193922454
NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter) rs193922455
NM_000444.6(PHEX):c.1949T>C (p.Leu650Pro) rs193922456
NM_000444.6(PHEX):c.1999G>T (p.Gly667Ter) rs193922457
NM_000444.6(PHEX):c.318G>A (p.Trp106Ter) rs193922458
NM_000444.6(PHEX):c.349+1G>C rs193922459
NM_000444.6(PHEX):c.884_885dup (p.Met296fs) rs193922460

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.