ClinVar Miner

List of variants reported as benign for beta-ketothiolase deficiency by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000019.3(ACAT1):c.*214G>C rs145690535
NM_000019.3(ACAT1):c.*250C>T rs79179095
NM_000019.3(ACAT1):c.*293A>T rs73559273
NM_000019.3(ACAT1):c.*507G>A rs12271846
NM_000019.3(ACAT1):c.*555A>G rs111376037
NM_000019.3(ACAT1):c.*599A>C rs2280332
NM_000019.3(ACAT1):c.*777_*780delAATT rs112801981
NM_000019.4(ACAT1):c.*179T>G rs114728153
NM_000019.4(ACAT1):c.-15C>G rs113348145
NM_000019.4(ACAT1):c.-22C>G rs3741054
NM_000019.4(ACAT1):c.-28T>A rs36216231
NM_000019.4(ACAT1):c.-9T>A rs3741055
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264

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