ClinVar Miner

List of variants in gene ACAT1 reported as benign for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000019.3(ACAT1):c.*599A>C rs2280332
NM_000019.3(ACAT1):c.*777_*780delAATT rs112801981
NM_000019.4(ACAT1):c.-9T>A rs3741055
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056
NM_000019.4(ACAT1):c.436-4G>A rs3741050

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