ClinVar Miner

List of variants in gene combination ACSF3, LOC125177393 reported as benign for Combined malonic and methylmalonic acidemia

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met) rs3743979 0.71214
NM_001243279.3(ACSF3):c.1126+40G>T rs3743980 0.64998
NM_001243279.3(ACSF3):c.996A>T (p.Ser332=) rs75591977 0.02464
NM_001243279.3(ACSF3):c.1126+4C>T rs73254029 0.00823
NM_001243279.3(ACSF3):c.978-83C>G rs9940965

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