ClinVar Miner

List of variants reported as likely pathogenic for Neu-Laxova syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_058179.4(PSAT1):c.976G>T (p.Glu326Ter) rs199998249 0.00001
NM_058179.4(PSAT1):c.122-1G>C rs772958302
NM_058179.4(PSAT1):c.570+2_570+15del rs2118643983
NM_058179.4(PSAT1):c.571-1G>A rs1828216198
NM_058179.4(PSAT1):c.740G>C (p.Ser247Thr)

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.