ClinVar Miner

List of variants in gene MT-TF reported as pathogenic for MELAS syndrome

Included ClinVar conditions (6):

Diabetes-deafness syndrome maternally transmitted; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Hypertrophic cardiomyopathy; Leigh Syndrome (mtDNA mutation)
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Kearns-Sayre syndrome; Leber optic atrophy; MERRF syndrome; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; NARP syndrome; Leigh syndrome; Progressive external ophthalmoplegia
Leber optic atrophy; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Leber optic atrophy; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Mitochondrial DNA-Associated Leigh Syndrome and NARP
MERRF syndrome; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

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: 3

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HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-CYB):m.583G>A	rs118203885
NC_012920.1(MT-CYB):m.616T>C	rs387906420
m.586G>A	rs387906734

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