ClinVar Miner

List of variants in gene MT-ATP8 reported as likely benign for Leigh syndrome

Included ClinVar conditions (11):

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Kearns-Sayre syndrome; Leber optic atrophy; MERRF syndrome; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; NARP syndrome; Leigh syndrome; Progressive external ophthalmoplegia
Leigh syndrome
Leigh syndrome; Charcot-Marie-Tooth disease type 4K
Leigh syndrome; Cytochrome-c oxidase deficiency disease
Leigh syndrome; Dilated cardiomyopathy 1GG
Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome; Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5
Leigh syndrome; Nystagmus; Lactic acidosis; Hypertrophic cardiomyopathy; Severe global developmental delay; Decreased activity of mitochondrial complex I
Mitochondrial complex I deficiency; Leigh syndrome
Pili torti-deafness syndrome; GRACILE syndrome; Leigh syndrome; Mitochondrial complex III deficiency nuclear type 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-ATP8):m.8453A>G	rs1603221486
NC_012920.1(MT-ATP8):m.8461C>A	rs1603221493
NC_012920.1(MT-ATP8):m.8471C>T	rs1603221506
NC_012920.1(MT-ATP8):m.8489A>G	rs1603221529
NC_012920.1(MT-ATP8):m.8507A>G	rs1603221546
NC_012920.1(MT-ATP8):m.8516T>C	rs878928585
NC_012920.1(MT-ATP8):m.8520A>G	rs1603221561

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.