ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003850.3(SUCLA2):c.110T>G (p.Leu37Trp) rs62636645 0.02383
NM_003850.3(SUCLA2):c.1099G>A (p.Asp367Asn) rs117412559 0.00851
NM_003850.3(SUCLA2):c.45C>T (p.Thr15=) rs35899901 0.00624

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