List of variants reported as uncertain significance for Deficiency of acetyl-CoA acetyltransferase by Natera, Inc.

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

Download table as spreadsheet

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.772C>T (p.Arg258Cys)	rs753816946	0.00010
NM_000019.4(ACAT1):c.-5C>T	rs747790910	0.00006
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=)	rs367713788	0.00006
NM_000019.4(ACAT1):c.85G>T (p.Val29Leu)	rs764142914	0.00006
NM_000019.4(ACAT1):c.891G>A (p.Thr297=)	rs372169445	0.00006
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.637G>A (p.Ala213Thr)	rs772087249	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.967A>G (p.Ile323Val)	rs1282394804	0.00003
NM_000019.4(ACAT1):c.990A>G (p.Val330=)	rs764361167	0.00002
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg)	rs761086326	0.00001
NM_000019.4(ACAT1):c.1200T>C (p.His400=)	rs748749897	0.00001
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)	rs151080188	0.00001
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)	rs757128075	0.00001
NM_000019.4(ACAT1):c.489G>T (p.Met163Ile)	rs778705529	0.00001
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val)	rs915506786	0.00001
NM_000019.4(ACAT1):c.1200_1207del (p.His400fs)	rs1057520091
NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr)	rs2077742350
NM_000019.4(ACAT1):c.291A>T (p.Gly97=)	rs746216662
NM_000019.4(ACAT1):c.436G>A (p.Asp146Asn)	rs2077523952
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=)	rs1591367485
NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro)	rs2077152202
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)	rs2077610591
NM_000019.4(ACAT1):c.983C>T (p.Ala328Val)	rs1057517702

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.