ClinVar Miner

List of variants in gene ARSL reported as uncertain significance for X-linked chondrodysplasia punctata

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_000047.2(ARSL):c.1239C>A (p.Asp413Glu)
NM_000047.2(ARSL):c.1694T>G (p.Ile565Ser) rs142375403
NM_000047.2(ARSL):c.36G>C (p.Arg12Ser) rs122460151
NM_000047.2(ARSL):c.970G>A (p.Glu324Lys) rs1555909467
NM_000047.3(ARSL):c.684C>G (p.Ile228Met)

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.