ClinVar Miner

List of variants reported as pathogenic for Juvenile myopathy, encephalopathy, lactic acidosis AND stroke by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NC_012920.1(MT-CYB):m.12276G>A rs1603223645
NC_012920.1(MT-CYB):m.14710G>A rs1603224840
NC_012920.1(MT-CYB):m.14739G>A rs1603224850
NC_012920.1(MT-CYB):m.15915G>A rs1603225588
NC_012920.1(MT-CYB):m.1644G>A rs587776441
NC_012920.1(MT-CYB):m.3243A>T rs199474657
NC_012920.1(MT-CYB):m.3255G>A rs1603218856
NC_012920.1(MT-CYB):m.3302A>G rs1603218878
NC_012920.1(MT-CYB):m.4298G>A rs1603219395
NC_012920.1(MT-CYB):m.5536_5537insT rs1603220010
NC_012920.1(MT-CYB):m.5538G>A rs1603220012
NC_012920.1(MT-CYB):m.5540G>A rs1603220014
NC_012920.1(MT-CYB):m.5543T>C rs1603220016
NC_012920.1(MT-CYB):m.8362T>G rs1603221423
NC_012920.1:m.13094T>C rs1603224029
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.3291T>C rs869312463
NC_012920.1:m.3380G>A rs1603218926
NC_012920.1:m.3481G>A rs587776433
NC_012920.1:m.7445A>G rs199474818
NC_012920.1:m.8969G>A rs794726857
m.12147G>A rs121434474
m.12315G>A rs121434462
m.15967G>A rs199474701
m.1606G>A rs199476143
m.3251A>G rs199474662
m.3256C>T rs199474659
m.3260A>G rs199474663
m.3271T>C rs199474658
m.3274A>G rs199474666
m.3303C>T rs199474660
m.3697G>A rs199476122
m.5521G>A rs199474673
m.5591G>A rs121434458
m.5728T>C rs199476132
m.583G>A rs118203885
m.586G>A rs387906734
m.616T>C rs387906420
m.7471_7472insC rs111033319
m.7497G>A rs387906419
m.7511T>C rs199474821
m.7512T>C rs199474817
m.8344A>G rs118192098
m.8356T>C rs118192099
m.8363G>A rs118192100

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.