ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
ACSF3, LYS462THR AND GLY465_GLY470 DEL
NM_174917.5(ACSF3):c.1073C>T (p.Thr358Ile) rs387907120
NM_174917.5(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794
NM_174917.5(ACSF3):c.1300C>T (p.Arg434Ter)
NM_174917.5(ACSF3):c.1405C>T (p.Arg469Ter)
NM_174917.5(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796
NM_174917.5(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119
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.451G>T (p.Glu151Ter)
NM_174917.5(ACSF3):c.593T>G (p.Met198Arg) rs387907121
NM_174917.5(ACSF3):c.675del (p.Leu226fs)
NM_174917.5(ACSF3):c.689G>A (p.Trp230Ter)
NM_174917.5(ACSF3):c.728C>T (p.Pro243Leu) rs140986055
NM_174917.5(ACSF3):c.828G>A (p.Trp276Ter)

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