ClinVar Miner

List of variants reported as uncertain significance for beta-ketothiolase deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303 0.00030
NM_000019.4(ACAT1):c.816G>T (p.Gln272His) rs139120939 0.00021
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val) rs369440498 0.00012
NM_000019.4(ACAT1):c.91C>T (p.Arg31Trp) rs199952982 0.00008
NM_000019.4(ACAT1):c.1198C>T (p.His400Tyr) rs201183545 0.00007
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr) rs764674778 0.00005
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met) rs201500937 0.00004
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) rs370652435 0.00004
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr) rs754478568 0.00003
NM_000019.4(ACAT1):c.721A>G (p.Thr241Ala) rs752592672 0.00003
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) rs1282394804 0.00003
NM_000019.4(ACAT1):c.776T>C (p.Val259Ala) rs746059964 0.00002
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326 0.00001
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr) rs151080188 0.00001
NM_000019.4(ACAT1):c.210T>G (p.Ile70Met) rs1465674363 0.00001
NM_000019.4(ACAT1):c.421A>T (p.Met141Leu) rs750876321 0.00001
NM_000019.4(ACAT1):c.422T>C (p.Met141Thr) rs758930842 0.00001
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148 0.00001
NM_000019.4(ACAT1):c.43C>T (p.Arg15Cys) rs757688736 0.00001
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val) rs915506786 0.00001
NM_000019.4(ACAT1):c.902C>T (p.Ala301Val) rs747860630 0.00001
NM_000019.4(ACAT1):c.914A>G (p.Asn305Ser) rs562043215 0.00001
NM_000019.4(ACAT1):c.959T>C (p.Val320Ala) rs1184689716 0.00001
NC_000011.9:g.(?_107992334)_(108464263_?)dup
NM_000019.4(ACAT1):c.1018G>A (p.Val340Met)
NM_000019.4(ACAT1):c.1078G>A (p.Val360Ile)
NM_000019.4(ACAT1):c.1096A>G (p.Met366Val)
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val) rs1591374695
NM_000019.4(ACAT1):c.1183G>C (p.Val395Leu)
NM_000019.4(ACAT1):c.1207A>T (p.Lys403Ter)
NM_000019.4(ACAT1):c.1219T>C (p.Tyr407His)
NM_000019.4(ACAT1):c.1240A>G (p.Asn414Asp) rs2134798319
NM_000019.4(ACAT1):c.1253_1255dup (p.Gly418dup) rs2077741217
NM_000019.4(ACAT1):c.1269_1270dup (p.Ile424fs)
NM_000019.4(ACAT1):c.133G>C (p.Val45Leu)
NM_000019.4(ACAT1):c.140C>T (p.Ala47Val) rs545826042
NM_000019.4(ACAT1):c.14C>T (p.Ala5Val)
NM_000019.4(ACAT1):c.200T>G (p.Leu67Arg)
NM_000019.4(ACAT1):c.209T>C (p.Ile70Thr)
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.256G>T (p.Val86Leu) rs1235436246
NM_000019.4(ACAT1):c.31G>A (p.Gly11Ser)
NM_000019.4(ACAT1):c.326T>G (p.Leu109Trp)
NM_000019.4(ACAT1):c.333A>G (p.Ala111=) rs2135336477
NM_000019.4(ACAT1):c.340C>T (p.Pro114Ser)
NM_000019.4(ACAT1):c.355T>G (p.Cys119Gly)
NM_000019.4(ACAT1):c.394G>C (p.Ala132Pro)
NM_000019.4(ACAT1):c.405G>T (p.Met135Ile)
NM_000019.4(ACAT1):c.418C>T (p.Leu140Phe) rs2077446791
NM_000019.4(ACAT1):c.435+4A>G rs1424341036
NM_000019.4(ACAT1):c.436-15G>A
NM_000019.4(ACAT1):c.475G>A (p.Val159Ile)
NM_000019.4(ACAT1):c.49C>T (p.Pro17Ser)
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly) rs532190594
NM_000019.4(ACAT1):c.670G>C (p.Ala224Pro) rs2134761406
NM_000019.4(ACAT1):c.707T>C (p.Ile236Thr)
NM_000019.4(ACAT1):c.72+6C>A
NM_000019.4(ACAT1):c.730+6G>C
NM_000019.4(ACAT1):c.742G>A (p.Val248Ile)
NM_000019.4(ACAT1):c.744_746del (p.Val250del)
NM_000019.4(ACAT1):c.76A>G (p.Ile26Val)
NM_000019.4(ACAT1):c.826+3_826+6del
NM_000019.4(ACAT1):c.838G>A (p.Ala280Thr) rs1318357125
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile) rs1239221388
NM_000019.4(ACAT1):c.886A>T (p.Met296Leu)
NM_000019.4(ACAT1):c.934A>G (p.Ile312Val)
NM_000019.4(ACAT1):c.976C>G (p.Pro326Ala)

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