ClinVar Miner

List of variants reported for Myopathy, lactic acidosis, and sideroblastic anemia 1 by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025215.6(PUS1):c.1008G>A (p.Glu336=) rs145430883 0.00076
NM_025215.6(PUS1):c.821G>A (p.Arg274Gln) rs138561555 0.00039
NM_025215.6(PUS1):c.987C>T (p.Pro329=) rs150880557 0.00038
NM_025215.6(PUS1):c.1076C>T (p.Ala359Val) rs142072030 0.00017
NM_025215.6(PUS1):c.1266G>A (p.Gly422=) rs201441662 0.00011
NM_025215.6(PUS1):c.1166A>G (p.Gln389Arg) rs753674809 0.00009
NM_025215.6(PUS1):c.904G>A (p.Val302Met) rs148057665 0.00009
NM_025215.6(PUS1):c.972C>T (p.Asp324=) rs200065515 0.00006
NM_025215.6(PUS1):c.564C>T (p.Gly188=) rs369250859 0.00005
NM_025215.6(PUS1):c.1134C>T (p.Ile378=) rs570364615 0.00004
NM_025215.6(PUS1):c.136C>T (p.Arg46Trp) rs765257355 0.00002
NM_025215.6(PUS1):c.216T>C (p.Gly72=) rs766451588 0.00002
NM_025215.6(PUS1):c.841G>A (p.Val281Met) rs776626629 0.00002
NM_025215.6(PUS1):c.894C>T (p.Val298=) rs201908893 0.00001
NM_025215.6(PUS1):c.1065G>A (p.Pro355=) rs147555676
NM_025215.6(PUS1):c.110C>G (p.Pro37Arg) rs561744467
NM_025215.6(PUS1):c.190C>T (p.His64Tyr) rs770669291

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.