ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial neurogastrointestinal encephalomyopathy by The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.502G>C (p.Ala168Pro)	rs2055619068

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