ClinVar Miner

List of variants studied for Deficiency of acetyl-CoA acetyltransferase by OMIM

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000019.4(ACAT1):c.1006-2A>C rs145229472 0.00003
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141 0.00002
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) rs120074143 0.00001
NM_000019.4(ACAT1):c.1163+2T>C rs1280110907 0.00001
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148 0.00001
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144 0.00001
NM_000019.4(ACAT1):c.826+1G>T rs727503796 0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146 0.00001
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147 0.00001
NM_000019.4(ACAT1):c.1006-1G>C rs1131691567
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1083dup (p.Ala362fs) rs387906283
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr) rs120074140
NM_000019.4(ACAT1):c.149del (p.Thr50fs) rs779565865
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser) rs120074145
NM_000019.4(ACAT1):c.2T>A (p.Met1Lys) rs120074142

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