ClinVar Miner

List of variants in gene ACAT1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000019.4(ACAT1):c.731-28G>A rs112489357 0.01003
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) rs762991875 0.00006
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795 0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00004
NM_000019.4(ACAT1):c.1006-2A>C rs145229472 0.00003
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638 0.00003
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141 0.00002
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594 0.00002
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) rs794727893 0.00002
NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr) rs755806238 0.00002
NM_000019.4(ACAT1):c.253G>T (p.Glu85Ter) rs748425041 0.00001
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser) rs1278227329 0.00001
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148 0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 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
NC_000011.9:g.(?_107992257)_(108018896_?)dup
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro) rs779758622
NM_000019.4(ACAT1):c.238+2T>C
NM_000019.4(ACAT1):c.401T>C (p.Met134Thr)
NM_000019.4(ACAT1):c.52dup (p.Leu18fs) rs1476273214
NM_000019.4(ACAT1):c.613A>C (p.Asn205His) rs748135542
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000019.4(ACAT1):c.730+6G>C
NM_000019.4(ACAT1):c.826+85_826+86insGTAA rs10682490
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs) rs749873354
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122

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