ClinVar Miner

List of variants reported as uncertain significance 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: 144
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_012920.1(MT-CYB):m.10005A>T rs1603222621
NC_012920.1(MT-CYB):m.10008A>G rs1603222626
NC_012920.1(MT-CYB):m.10014G>A rs1603222629
NC_012920.1(MT-CYB):m.10015T>C rs28374827
NC_012920.1(MT-CYB):m.10020T>C rs1603222636
NC_012920.1(MT-CYB):m.10027T>C rs1603222638
NC_012920.1(MT-CYB):m.10043del rs1603222645
NC_012920.1(MT-CYB):m.10048A>G rs878957961
NC_012920.1(MT-CYB):m.10055A>G rs1603222653
NC_012920.1(MT-CYB):m.10405T>C rs1603222825
NC_012920.1(MT-CYB):m.10457T>C rs1603222845
NC_012920.1(MT-CYB):m.10462T>C rs1603222850
NC_012920.1(MT-CYB):m.12143T>C rs1603223568
NC_012920.1(MT-CYB):m.12144A>G rs1603223569
NC_012920.1(MT-CYB):m.12150T>C rs1603223574
NC_012920.1(MT-CYB):m.12163A>G rs1603223581
NC_012920.1(MT-CYB):m.12173T>A rs1556424075
NC_012920.1(MT-CYB):m.12176G>A rs1603223594
NC_012920.1(MT-CYB):m.12184A>G rs1603223603
NC_012920.1(MT-CYB):m.12185G>A rs1603223607
NC_012920.1(MT-CYB):m.12202T>C rs1603223613
NC_012920.1(MT-CYB):m.12204A>C rs1603223614
NC_012920.1(MT-CYB):m.12205C>T rs1603223615
NC_012920.1(MT-CYB):m.12213G>A rs1603223616
NC_012920.1(MT-CYB):m.12218C>A rs1603223621
NC_012920.1(MT-CYB):m.12230A>G rs1603223625
NC_012920.1(MT-CYB):m.12241dup rs1603223633
NC_012920.1(MT-CYB):m.12247T>C rs1603223637
NC_012920.1(MT-CYB):m.12250C>T rs1603223639
NC_012920.1(MT-CYB):m.12255T>C rs1603223640
NC_012920.1(MT-CYB):m.12278T>C rs1603223646
NC_012920.1(MT-CYB):m.12291T>C rs1603223653
NC_012920.1(MT-CYB):m.12293G>A rs1603223654
NC_012920.1(MT-CYB):m.12302C>A rs1603223658
NC_012920.1(MT-CYB):m.12302C>T rs1603223658
NC_012920.1(MT-CYB):m.12318G>A rs1603223664
NC_012920.1(MT-CYB):m.14681G>A rs1603224827
NC_012920.1(MT-CYB):m.14729T>C rs1603224848
NC_012920.1(MT-CYB):m.15888G>A rs1603225568
NC_012920.1(MT-CYB):m.15890C>T rs527236196
NC_012920.1(MT-CYB):m.15897G>A rs1603225575
NC_012920.1(MT-CYB):m.15909A>T rs1556424690
NC_012920.1(MT-CYB):m.15921T>C rs1603225593
NC_012920.1(MT-CYB):m.15976T>C rs1603225620
NC_012920.1(MT-CYB):m.15983T>C rs1603225623
NC_012920.1(MT-CYB):m.15984T>C rs1603225624
NC_012920.1(MT-CYB):m.15994A>G rs1603225627
NC_012920.1(MT-CYB):m.15995G>A rs1603225630
NC_012920.1(MT-CYB):m.16003T>C rs1603225634
NC_012920.1(MT-CYB):m.16013A>G rs1603225636
NC_012920.1(MT-CYB):m.16018_16032dup rs1603225639
NC_012920.1(MT-CYB):m.16021C>T rs1603225641
NC_012920.1(MT-CYB):m.1608G>A rs1603218582
NC_012920.1(MT-CYB):m.1619_1620insT rs1603218585
NC_012920.1(MT-CYB):m.1629A>G rs1603218587
NC_012920.1(MT-CYB):m.1631C>T rs1603218590
NC_012920.1(MT-CYB):m.1636A>G rs1603218591
NC_012920.1(MT-CYB):m.1638T>C rs1603218592
NC_012920.1(MT-CYB):m.1641G>A rs28416113
NC_012920.1(MT-CYB):m.1643A>G rs1603218595
NC_012920.1(MT-CYB):m.1654T>C rs1603218602
NC_012920.1(MT-CYB):m.1658T>C rs1603218607
NC_012920.1(MT-CYB):m.3248G>A rs879110136
NC_012920.1(MT-CYB):m.3252A>T rs199474661
NC_012920.1(MT-CYB):m.3263C>T rs1603218860
NC_012920.1(MT-CYB):m.3269A>G rs1603218862
NC_012920.1(MT-CYB):m.3272T>C rs1603218865
NC_012920.1(MT-CYB):m.4264G>A rs1603219385
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(MT-CYB):m.4339G>A rs1603219415
NC_012920.1(MT-CYB):m.4360G>A rs1603219422
NC_012920.1(MT-CYB):m.4399T>C rs1603219445
NC_012920.1(MT-CYB):m.4400A>G rs1603219449
NC_012920.1(MT-CYB):m.4429G>A rs1603219456
NC_012920.1(MT-CYB):m.4451T>G rs1603219461
NC_012920.1(MT-CYB):m.4455A>G rs878986264
NC_012920.1(MT-CYB):m.4456C>T rs1603219465
NC_012920.1(MT-CYB):m.4466A>G rs1603219467
NC_012920.1(MT-CYB):m.5524T>C rs1603220004
NC_012920.1(MT-CYB):m.5542C>T rs1603220015
NC_012920.1(MT-CYB):m.5544T>C rs1603220018
NC_012920.1(MT-CYB):m.5550C>T rs1603220019
NC_012920.1(MT-CYB):m.5560G>A rs1603220026
NC_012920.1(MT-CYB):m.5573A>G rs1603220033
NC_012920.1(MT-CYB):m.5575T>C rs1603220034
NC_012920.1(MT-CYB):m.5590G>A rs28619345
NC_012920.1(MT-CYB):m.5607T>C rs1603220054
NC_012920.1(MT-CYB):m.5609T>C rs1603220058
NC_012920.1(MT-CYB):m.5619G>A rs1603220062
NC_012920.1(MT-CYB):m.5645G>A rs1603220068
NC_012920.1(MT-CYB):m.5654T>C rs1603220072
NC_012920.1(MT-CYB):m.5661A>G rs1603220076
NC_012920.1(MT-CYB):m.5669G>A rs1603220083
NC_012920.1(MT-CYB):m.5672T>C rs1603220085
NC_012920.1(MT-CYB):m.5693T>C rs1603220092
NC_012920.1(MT-CYB):m.5708C>A rs1603220094
NC_012920.1(MT-CYB):m.5791G>A rs1603220121
NC_012920.1(MT-CYB):m.5793A>G rs1603220122
NC_012920.1(MT-CYB):m.579T>C rs1603218447
NC_012920.1(MT-CYB):m.5802T>C rs1603220128
NC_012920.1(MT-CYB):m.5804A>G rs1603220130
NC_012920.1(MT-CYB):m.5809G>A rs1603220134
NC_012920.1(MT-CYB):m.5819T>C rs1603220139
NC_012920.1(MT-CYB):m.5837G>A rs1603220147
NC_012920.1(MT-CYB):m.5840C>A rs1603220149
NC_012920.1(MT-CYB):m.5841T>C rs1603220150
NC_012920.1(MT-CYB):m.5852T>C rs1603220153
NC_012920.1(MT-CYB):m.5858T>C rs1603220157
NC_012920.1(MT-CYB):m.5864G>A rs1603220158
NC_012920.1(MT-CYB):m.5865T>C rs1603220159
NC_012920.1(MT-CYB):m.5885T>C rs1603220164
NC_012920.1(MT-CYB):m.5889A>G rs1603220167
NC_012920.1(MT-CYB):m.588T>C rs1603218449
NC_012920.1(MT-CYB):m.624C>T rs1603218465
NC_012920.1(MT-CYB):m.628C>T rs1603218467
NC_012920.1(MT-CYB):m.643A>G rs1603218472
NC_012920.1(MT-CYB):m.7478G>A rs1603220977
NC_012920.1(MT-CYB):m.7479G>A rs1603220980
NC_012920.1(MT-CYB):m.7487C>T rs1603220981
NC_012920.1(MT-CYB):m.7499C>A rs1603220989
NC_012920.1(MT-CYB):m.7518A>G rs1603220992
NC_012920.1(MT-CYB):m.7520G>A rs1603220993
NC_012920.1(MT-CYB):m.7525T>C rs1603220995
NC_012920.1(MT-CYB):m.7538T>C rs1603221004
NC_012920.1(MT-CYB):m.7555T>C rs1603221010
NC_012920.1(MT-CYB):m.7562A>G rs1603221015
NC_012920.1(MT-CYB):m.7568dup rs1603221020
NC_012920.1(MT-CYB):m.7577T>C rs1603221025
NC_012920.1(MT-CYB):m.7582C>T rs1603221026
NC_012920.1(MT-CYB):m.8301A>G rs1603221396
NC_012920.1(MT-CYB):m.8311T>A rs371589230
NC_012920.1(MT-CYB):m.8340_8341insT rs1603221409
NC_012920.1(MT-CYB):m.8358A>G rs1603221421
NC_012920.1(MT-CYB):m.8364A>T rs1603221428
NC_012920.1(MT-CYB):m.9993T>C rs1603222613
NC_012920.1(MT-CYB):m.9996T>C rs1556423755
NC_012920.1:m.5559A>G rs1556423008
NC_012920.1:m.7496T>C rs1057516061
m.12201T>C rs387906733
m.15950G>A rs118203890
m.3250T>C rs199474664
m.4290T>C rs121434469

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.