ClinVar Miner

List of variants reported as uncertain significance for Mitochondrial myopathy-lactic acidosis-deafness syndrome by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001256007.3(PNPLA8):c.1874A>G (p.His625Arg) rs1365563377 0.00001

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