ClinVar Miner

List of variants studied for Mitochondrial complex I deficiency, nuclear type 1 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu) rs199842745 0.00042
NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr) rs146837138 0.00036
NM_007103.4(NDUFV1):c.454C>T (p.Arg152Cys) rs151144350 0.00011
NM_007103.4(NDUFV1):c.1162+4A>C rs199683937 0.00005
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659 0.00004
NM_002495.4(NDUFS4):c.350+6T>C rs3733833 0.00002
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs) rs1445075330

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.