ClinVar Miner

List of variants studied for Combined malonic and methylmalonic acidemia by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001243279.3(ACSF3):c.1367-464C>T rs2151560692

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