ClinVar Miner

List of variants reported as likely pathogenic by Center for Neuroscience and Cell Biology,University of Coimbra, Portugal

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NC_012920.1:m.15060G>A rs1057516072
NC_012920.1:m.15246G>A rs1057516075
NC_012920.1:m.8418T>C rs1057516062
NC_012920.1:m.9166T>C rs1057516063
NC_012920.1:m.9237G>A rs1057516064
NM_001131005.2(MEF2C):c.-143+4180_-143+4193del rs1085307051
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) rs863224229
NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs) rs778575439
NM_024120.5(NDUFAF5):c.290G>A (p.Gly97Asp) rs1555830705

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.