ClinVar Miner

List of variants in gene combination DNM1L, YARS2 reported as benign for inherited sideroblastic anemia

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012062.5(DNM1L):c.*1093T>C rs1971910 0.22300
NM_001040436.3(YARS2):c.*209G>C rs10844337 0.15609
NM_001040436.3(YARS2):c.*643G>A rs11052214 0.14502
NM_001040436.3(YARS2):c.*191T>C rs144235100 0.01314
NM_001040436.3(YARS2):c.*162A>G rs11052215 0.01096
NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) rs148729348 0.00975
NM_001040436.3(YARS2):c.*406C>T rs145618550

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.