ClinVar Miner

List of variants reported as pathogenic for Leigh syndrome by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) rs863224229
NM_003172.4(SURF1):c.281dup (p.Leu94fs) rs1588691786
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.32_38dup (p.Leu16fs) rs1410388157
NM_003172.4(SURF1):c.516-2A>G rs782682492
NM_003172.4(SURF1):c.555_556del (p.Lys186fs)
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413
NM_003172.4(SURF1):c.631_632del (p.Glu211fs) rs1554768333
NM_003172.4(SURF1):c.688C>T (p.Arg230Ter) rs782623477
NM_003172.4(SURF1):c.790_791AG[1] (p.Arg264fs) rs782490558
NM_003172.4(SURF1):c.815_825dup (p.Val276fs)
NM_003172.4(SURF1):c.841_842CT[2] (p.Ser282fs) rs782316919

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.