ClinVar Miner

List of variants reported as pathogenic for Leigh syndrome; Nystagmus; Lactic acidosis; Hypertrophic cardiomyopathy; Severe global developmental delay; Decreased activity of mitochondrial complex I by Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015965.7(NDUFA13):c.107T>C (p.Leu36Pro)	rs2061098856	0.00001
NM_015965.7(NDUFA13):c.194del (p.Phe65fs)	rs2061105702

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