ClinVar Miner

List of variants reported as pathogenic by Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015965.7(NDUFA13):c.107T>C (p.Leu36Pro) rs2061098856 0.00001
NM_001170535.3(ATAD3A):c.1217T>G (p.Leu406Arg) rs1570345942
NM_002495.4(NDUFS4):c.350+5G>A rs1751865973
NM_015965.7(NDUFA13):c.194del (p.Phe65fs) rs2061105702

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