ClinVar Miner

List of variants studied for beta-ketothiolase deficiency by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.-5C>T
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788
NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr)
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
NM_000019.4(ACAT1):c.291A>T (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.384A>G (p.Ser128=) rs374439037
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.436G>A (p.Asp146Asn)
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841
NM_000019.4(ACAT1):c.480A>G (p.Pro160=) rs141131039
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr)
NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro)
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)
NM_000019.4(ACAT1):c.891G>A (p.Thr297=)
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264
NM_000019.4(ACAT1):c.983C>T (p.Ala328Val) rs1057517702
NM_000019.4(ACAT1):c.990A>G (p.Val330=)

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