ClinVar Miner

List of variants reported as uncertain significance for Combined malonic and methylmalonic aciduria by Invitae

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Total variants: 9
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HGVS dbSNP
NM_174917.5(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434
NM_174917.5(ACSF3):c.122A>T (p.Asp41Val) rs545886514
NM_174917.5(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796
NM_174917.5(ACSF3):c.313G>A (p.Asp105Asn)
NM_174917.5(ACSF3):c.358G>A (p.Gly120Ser) rs200703917
NM_174917.5(ACSF3):c.431C>T (p.Ser144Phe)
NM_174917.5(ACSF3):c.506C>T (p.Pro169Leu)
NM_174917.5(ACSF3):c.541G>A (p.Glu181Lys) rs1567685421
NM_174917.5(ACSF3):c.682C>G (p.His228Asp)

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