ClinVar Miner

List of variants in gene ACSF3 reported as uncertain significance for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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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)
NM_174917.5(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
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)
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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