ClinVar Miner

List of variants studied for Leigh syndrome by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (11):

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Kearns-Sayre syndrome; Leber optic atrophy; MERRF syndrome; MELAS syndrome; NARP syndrome; Leigh syndrome; Progressive external ophthalmoplegia
Leigh syndrome
Leigh syndrome; Charcot-Marie-Tooth disease type 4K
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; Mitochondrial complex IV deficiency, nuclear type 1
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
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002496.4(NDUFS8):c.343A>G (p.Lys115Glu)	rs764276946	0.00001
NM_003172.4(SURF1):c.106+1G>C	rs863224926

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