ClinVar Miner

List of variants in gene PNPLA8 reported as benign for Mitochondrial myopathy-lactic acidosis-deafness syndrome

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001256007.3(PNPLA8):c.1358+16T>C rs11971386 0.08285
NM_001256007.3(PNPLA8):c.1626-15del rs3214243

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