ClinVar Miner

List of variants in gene MT-ND3 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: 7

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HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-ND3):m.10083A>G	rs1556423760
NC_012920.1(MT-ND3):m.10098G>T	rs1569484342
NC_012920.1(MT-ND3):m.10113A>G	rs1603222679
NC_012920.1(MT-ND3):m.10188A>G	rs1603222715
NC_012920.1(MT-ND3):m.10192C>A	rs1556423776
NC_012920.1(MT-ND3):m.10326T>A	rs1603222777
NC_012920.1(MT-ND3):m.10398A>T	rs2853826

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