ClinVar Miner

List of variants in gene MT-TW reported as likely benign 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: 5

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HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-CYB):m.5516A>G	rs1603220001
NC_012920.1(MT-CYB):m.5539A>T	rs1603220013
NC_012920.1(MT-CYB):m.5553T>G	rs878853053
NC_012920.1(MT-CYB):m.5566A>G	rs1603220029
NC_012920.1:m.5561T>C	rs1556423009

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