ClinVar Miner

List of variants reported as uncertain significance 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: 45
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HGVS dbSNP
NC_000011.10:g.108147755C>T
NC_000011.10:g.108147774A>C
NC_000011.10:g.108147787C>T
NC_000011.10:g.108147964G>C
NC_000011.10:g.108148058G>T
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.-70T>A rs566741161
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.-5C>T
NM_000019.4(ACAT1):c.1006-10A>G rs886047596
NM_000019.4(ACAT1):c.1191T>C (p.His397=)
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.1279C>A (p.Leu427Met)
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)
NM_000019.4(ACAT1):c.15G>C (p.Ala5=) rs886047594
NM_000019.4(ACAT1):c.239-7A>G
NM_000019.4(ACAT1):c.239-8T>A rs202030208
NM_000019.4(ACAT1):c.291A>T (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.29G>A (p.Ser10Asn) rs886047595
NM_000019.4(ACAT1):c.378T>C (p.Cys126=)
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325
NM_000019.4(ACAT1):c.721A>G (p.Thr241Ala)
NM_000019.4(ACAT1):c.754G>A (p.Glu252Lys)
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) rs370652435
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys) rs886041122
NM_000019.4(ACAT1):c.941-13T>C
NM_000019.4(ACAT1):c.941-14C>T rs12801620
NM_000019.4(ACAT1):c.941-14_941-13insCT rs1555034894
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447

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