ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria by Baylor Genetics

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Total variants: 4

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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.49C>G (p.Arg17Gly)	rs200124902	0.00024
NM_003850.3(SUCLA2):c.132A>C (p.Gln44His)	rs146794237	0.00004
NM_003850.3(SUCLA2):c.880T>C (p.Trp294Arg)	rs756098740

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