ClinVar Miner

List of variants in gene SUCLA2 reported as not provided for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003850.3(SUCLA2):c.1270G>A (p.Gly424Arg)	rs144441199	0.00025
NM_003850.3(SUCLA2):c.534+1G>A	rs113994161	0.00001

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