ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP
NM_000019.3(ACAT1):c.*258G>A rs79764488
NM_000019.3(ACAT1):c.*753C>T rs186239800
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.1026G>A (p.Leu342=)
NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg)
NM_000019.4(ACAT1):c.1099T>C (p.Leu367=)
NM_000019.4(ACAT1):c.1101G>A (p.Leu367=)
NM_000019.4(ACAT1):c.1128C>T (p.Ile376=)
NM_000019.4(ACAT1):c.1131T>C (p.Asn377=)
NM_000019.4(ACAT1):c.1147C>T (p.Leu383=)
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
NM_000019.4(ACAT1):c.1209G>A (p.Lys403=)
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788
NM_000019.4(ACAT1):c.126G>T (p.Val42=)
NM_000019.4(ACAT1):c.1281G>A (p.Leu427=)
NM_000019.4(ACAT1):c.138T>C (p.Ser46=)
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
NM_000019.4(ACAT1):c.177T>G (p.Leu59=)
NM_000019.4(ACAT1):c.192C>T (p.Ala64=)
NM_000019.4(ACAT1):c.225C>T (p.Ala75=)
NM_000019.4(ACAT1):c.22C>T (p.Leu8=)
NM_000019.4(ACAT1):c.238+8G>T
NM_000019.4(ACAT1):c.239-6dup
NM_000019.4(ACAT1):c.239-8T>A rs202030208
NM_000019.4(ACAT1):c.264A>G (p.Glu88=)
NM_000019.4(ACAT1):c.267A>C (p.Ala89=)
NM_000019.4(ACAT1):c.267A>G (p.Ala89=)
NM_000019.4(ACAT1):c.291A>C (p.Gly97=)
NM_000019.4(ACAT1):c.312A>G (p.Thr104=)
NM_000019.4(ACAT1):c.325T>C (p.Leu109=)
NM_000019.4(ACAT1):c.330T>C (p.Gly110=)
NM_000019.4(ACAT1):c.334+8G>A
NM_000019.4(ACAT1):c.354A>G (p.Pro118=)
NM_000019.4(ACAT1):c.360C>T (p.Thr120=)
NM_000019.4(ACAT1):c.36C>G (p.Ala12=)
NM_000019.4(ACAT1):c.36C>T (p.Ala12=)
NM_000019.4(ACAT1):c.375T>C (p.Val125=)
NM_000019.4(ACAT1):c.378T>C (p.Cys126=)
NM_000019.4(ACAT1):c.384A>G (p.Ser128=) rs374439037
NM_000019.4(ACAT1):c.42C>T (p.Ser14=)
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.436-5C>T rs369472868
NM_000019.4(ACAT1):c.436-7T>C rs775534544
NM_000019.4(ACAT1):c.436-8C>T
NM_000019.4(ACAT1):c.438T>C (p.Asp146=)
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala)
NM_000019.4(ACAT1):c.507A>T (p.Pro169=) rs201456540
NM_000019.4(ACAT1):c.513T>C (p.Gly171=)
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325
NM_000019.4(ACAT1):c.546C>T (p.Asp182=)
NM_000019.4(ACAT1):c.580-5dup
NM_000019.4(ACAT1):c.580-7T>C rs565210496
NM_000019.4(ACAT1):c.603A>G (p.Ala201=) rs1591368730
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724
NM_000019.4(ACAT1):c.622C>A (p.Arg208=) rs532190594
NM_000019.4(ACAT1):c.627T>C (p.Asn209=)
NM_000019.4(ACAT1):c.636C>T (p.Asp212=)
NM_000019.4(ACAT1):c.642T>C (p.Tyr214=)
NM_000019.4(ACAT1):c.666T>C (p.Ser222=)
NM_000019.4(ACAT1):c.684T>C (p.Ala228=)
NM_000019.4(ACAT1):c.687G>A (p.Gly229=) rs545578010
NM_000019.4(ACAT1):c.72+10G>T
NM_000019.4(ACAT1):c.731-6T>C
NM_000019.4(ACAT1):c.738A>G (p.Pro246=)
NM_000019.4(ACAT1):c.759T>C (p.Asp253=)
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946
NM_000019.4(ACAT1):c.777T>C (p.Val259=)
NM_000019.4(ACAT1):c.810T>C (p.Val270=)
NM_000019.4(ACAT1):c.831A>G (p.Thr277=)
NM_000019.4(ACAT1):c.846T>C (p.Asn282=)
NM_000019.4(ACAT1):c.84T>C (p.Tyr28=)
NM_000019.4(ACAT1):c.864T>C (p.Asp288=)
NM_000019.4(ACAT1):c.867A>C (p.Gly289=)
NM_000019.4(ACAT1):c.918T>A (p.Val306=) rs200318899
NM_000019.4(ACAT1):c.941-9T>G
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447
NM_000019.4(ACAT1):c.996T>C (p.Ala332=)

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