ClinVar Miner

List of variants reported as uncertain significance for Lesch-Nyhan syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_000194.3(HPRT1):c.485G>T (p.Ser162Ile) rs886042455
NM_000194.3(HPRT1):c.536T>C (p.Val179Ala) rs1569360120
NM_000194.3(HPRT1):c.648del (p.Lys215_Tyr216insTer) rs1602750626
NM_000194.3(HPRT1):c.653C>G (p.Ala218Gly) rs1602750635

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.