ClinVar Miner

List of variants in gene MT-ND4L 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: 6

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HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-ND4L):m.10507C>T	rs1603222868
NC_012920.1(MT-ND4L):m.10599G>A	rs1603222910
NC_012920.1(MT-ND4L):m.10635G>A	rs1603222924
NC_012920.1(MT-ND4L):m.10639A>G	rs1603222927
NC_012920.1(MT-ND4L):m.10644G>A	rs1569484385
NC_012920.1(MT-ND4L):m.10680G>A	rs1603222945

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