ClinVar Miner

List of variants reported as uncertain significance for Mitochondrial myopathy-lactic acidosis-deafness syndrome by Institute of Human Genetics, Cologne University

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001256007.3(PNPLA8):c.1904C>T (p.Pro635Leu)	rs2154514825

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