ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 24
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HGVS dbSNP
NM_000019.3(ACAT1):c.1006-10_1006-9ins171
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val)
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val) rs1591374695
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) rs120074143
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.1217A>G (p.Glu406Gly) rs147872303
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.1253_1255dup (p.Gly418dup)
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met)
NM_000019.4(ACAT1):c.140C>T (p.Ala47Val)
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser) rs1591362402
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr)
NM_000019.4(ACAT1):c.418C>T (p.Leu140Phe)
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val)
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly) rs532190594
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr)
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) rs370652435
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile) rs1239221388
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) rs1282394804

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