List of variants in gene MT-TI studied for MELAS syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 21

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-CYB):m.4264G>A	rs1603219385
NC_012920.1(MT-CYB):m.4296G>A	rs1603219393
NC_012920.1(MT-CYB):m.4298G>A	rs1603219395
NC_012920.1(MT-CYB):m.4308G>A	rs1603219396
NC_012920.1(MT-CYB):m.4310A>G	rs1556422841
NC_012920.1(MT-CYB):m.4312C>T	rs193303033
NC_012920.1(MT-CYB):m.4313T>C	rs1603219398
NC_012920.1(MT-CYB):m.4314T>A	rs1603219401
NC_012920.1(MT-CYB):m.4314T>C	rs1603219401
NC_012920.1(MT-CYB):m.4314del	rs1603219400
NC_012920.1(MT-CYB):m.4318C>T	rs1603219405
NC_012920.1(MT-CYB):m.4320C>A	rs1603219406
NC_012920.1(MT-CYB):m.4320C>T	rs1603219406
NC_012920.1(MT-CYB):m.4327T>C	rs1603219411
NC_012920.1:m.4277T>C	rs876661358
NC_012920.1:m.4316A>G	rs876661360
NC_012920.1:m.4317delA	rs876661361
m.4284G>A	rs121434468
m.4290T>C	rs121434469
m.4295A>G	rs121434467
m.4317A>G	rs121434465

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.