ClinVar Miner

List of variants reported as likely pathogenic by GeniaGeo, Laboratorio Genia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_000023.4(SGCA):c.391dup (p.Leu131fs) rs144356125
NM_000368.4(TSC1):c.1698_1704delinsGC (p.Ala567fs) rs1554815914
NM_000492.4(CFTR):c.1391A>C (p.Lys464Thr) rs1584793633
NM_001130987.2(DYSF):c.3843_3858del (p.Gln1283fs) rs1574277160
NM_001130987.2(DYSF):c.5571G>C (p.Trp1857Cys) rs1573094789

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.