ClinVar Miner

List of variants studied for MELAS syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (6):

Diabetes-deafness syndrome maternally transmitted; MELAS syndrome; Hypertrophic cardiomyopathy; Leigh Syndrome (mtDNA mutation)
Kearns-Sayre syndrome; Leber optic atrophy; MERRF syndrome; MELAS syndrome; NARP syndrome; Leigh syndrome; Progressive external ophthalmoplegia
Leber optic atrophy; MELAS syndrome
Leber optic atrophy; MELAS syndrome; Mitochondrial DNA-Associated Leigh Syndrome and NARP
MELAS syndrome
MERRF syndrome; MELAS syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-CYB):m.15437G>A	rs878853058
NC_012920.1(MT-TL1):m.3243A>G	rs199474657
NC_012920.1(MT-TL1):m.3271T>C	rs199474658

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