ClinVar Miner

List of variants reported as likely pathogenic for Leigh syndrome by Invitae

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003172.4(SURF1):c.54+1G>A
NM_003172.4(SURF1):c.54+34_55-2del
NM_003172.4(SURF1):c.54+40_55del
NM_003172.4(SURF1):c.752-3C>G
NM_003172.4(SURF1):c.759dup (p.Val254fs)	rs1554768246
NM_003172.4(SURF1):c.833+1_833+2insACCTGGGGAC	rs2119079909

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