ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP
NM_000019.3(ACAT1):c.*214G>C rs145690535
NM_000019.3(ACAT1):c.*234_*235delCT rs1295289344
NM_000019.3(ACAT1):c.*291A>C rs771132416
NM_000019.3(ACAT1):c.*344T>C rs776705661
NM_000019.3(ACAT1):c.*393A>G rs886047601
NM_000019.3(ACAT1):c.*464A>G rs886047602
NM_000019.3(ACAT1):c.*467_*470dupATCA rs537463051
NM_000019.3(ACAT1):c.*553T>A rs183999318
NM_000019.3(ACAT1):c.*591A>T rs886047604
NM_000019.3(ACAT1):c.*675A>C rs886047605
NM_000019.3(ACAT1):c.*703T>C rs188826374
NM_000019.3(ACAT1):c.*753C>T rs186239800
NM_000019.3(ACAT1):c.-70T>A rs566741161
NM_000019.3(ACAT1):c.1006-10_1006-9ins171
NM_000019.4(ACAT1):c.*107dup rs886047598
NM_000019.4(ACAT1):c.*123_*127dup rs556749538
NM_000019.4(ACAT1):c.*55T>C rs886047597
NM_000019.4(ACAT1):c.-22C>T rs3741054
NM_000019.4(ACAT1):c.1006-10A>G rs886047596
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val)
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)
NM_000019.4(ACAT1):c.1198C>T (p.His400Tyr) rs201183545
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326
NM_000019.4(ACAT1):c.121-3C>G
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303
NM_000019.4(ACAT1):c.1222G>C (p.Gly408Arg) rs553101581
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.15G>C (p.Ala5=) rs886047594
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)
NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser)
NM_000019.4(ACAT1):c.291A>T (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.299G>A (p.Gly100Glu)
NM_000019.4(ACAT1):c.29G>A (p.Ser10Asn) rs886047595
NM_000019.4(ACAT1):c.301C>A (p.Gln101Lys)
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.460G>A (p.Glu154Lys)
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325
NM_000019.4(ACAT1):c.534G>T (p.Leu178Phe)
NM_000019.4(ACAT1):c.602C>T (p.Ala201Val)
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly)
NM_000019.4(ACAT1):c.664A>C (p.Ser222Arg)
NM_000019.4(ACAT1):c.760G>A (p.Glu254Lys)
NM_000019.4(ACAT1):c.764A>C (p.Glu255Ala)
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) rs794727893
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) rs370652435
NM_000019.4(ACAT1):c.829A>C (p.Thr277Pro)
NM_000019.4(ACAT1):c.851G>A (p.Ser284Asn)
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile)
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190
NM_000019.4(ACAT1):c.941-14_941-13insCT rs1555034894
NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup)
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) rs1282394804
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447

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