ClinVar Miner

List of variants reported as benign for Leigh syndrome by Genome-Nilou Lab

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066 0.69341
NM_133259.4(LRPPRC):c.2896+26C>T rs4952694 0.61459
NM_133259.4(LRPPRC):c.2806-110C>A rs4953039 0.60195
NM_133259.4(LRPPRC):c.4128+37G>A rs2955280 0.59328
NM_133259.4(LRPPRC):c.2080-40A>C rs7594526 0.50485
NM_133259.4(LRPPRC):c.2296+27T>G rs28394191 0.47876
NM_133259.4(LRPPRC):c.150-233G>T rs4276071 0.36352
NM_133259.4(LRPPRC):c.738-70T>C rs17031786 0.21424
NM_133259.4(LRPPRC):c.1155+30A>G rs7593842 0.21391
NM_133259.4(LRPPRC):c.1843-28T>G rs72877186 0.21363
NM_133259.4(LRPPRC):c.1677+152G>A rs59338949 0.19606
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042 0.14931
NM_133259.4(LRPPRC):c.3900+14C>T rs3795859 0.10271
NM_133259.4(LRPPRC):c.3900+15C>T rs76850904 0.09620
NM_133259.4(LRPPRC):c.3275+97T>C rs17424482 0.08642
NM_133259.4(LRPPRC):c.149+57G>T rs62135152 0.06847
NM_133259.4(LRPPRC):c.1582+28T>C rs62135104 0.06827
NM_133259.4(LRPPRC):c.1921-54A>T rs35768060 0.04572
NM_133259.4(LRPPRC):c.3570-3C>T rs35113761 0.02876
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798 0.01150
NM_133259.4(LRPPRC):c.1489-56T>G rs10190161
NM_133259.4(LRPPRC):c.1677+11C>G rs58811869
NM_133259.4(LRPPRC):c.3039+21C>A rs7568481

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.