ClinVar Miner

List of variants studied for Combined malonic and methylmalonic acidemia by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00273
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu) rs140986055 0.00022

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