ClinVar Miner

List of variants studied for Combined malonic and methylmalonic aciduria by Invitae

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Total variants: 19
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NM_174917.5(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794
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.1300C>T (p.Arg434Ter)
NM_174917.5(ACSF3):c.1405C>T (p.Arg469Ter) rs748382994
NM_174917.5(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796
NM_174917.5(ACSF3):c.1567C>T (p.Arg523Ter) rs387907118
NM_174917.5(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143
NM_174917.5(ACSF3):c.305del (p.Cys102fs)
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.451G>T (p.Glu151Ter)
NM_174917.5(ACSF3):c.506C>T (p.Pro169Leu)
NM_174917.5(ACSF3):c.541G>A (p.Glu181Lys) rs1567685421
NM_174917.5(ACSF3):c.675del (p.Leu226fs)
NM_174917.5(ACSF3):c.682C>G (p.His228Asp)
NM_174917.5(ACSF3):c.689G>A (p.Trp230Ter)
NM_174917.5(ACSF3):c.828G>A (p.Trp276Ter)

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