List of variants in gene ABCG8 reported as pathogenic for syndromic dyslipidemia

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

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)	rs137852987	0.00102
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)	rs137852988	0.00022
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)	rs137852991	0.00013
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)	rs137852989	0.00008
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln)	rs137852990	0.00006
NM_022437.3(ABCG8):c.320C>G (p.Ser107Ter)	rs137854891	0.00002
NM_022437.3(ABCG8):c.1444del (p.Leu482fs)	rs748233241	0.00001
NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter)	rs544500542	0.00001
NM_022437.3(ABCG8):c.1787T>G (p.Leu596Arg)	rs137852992	0.00001
NM_022437.3(ABCG8):c.120C>A (p.Tyr40Ter)	rs1000291485
NM_022437.3(ABCG8):c.1752G>A (p.Trp584Ter)	rs754182905
NM_022437.3(ABCG8):c.1756+2T>A
NM_022437.3(ABCG8):c.547del (p.Gln183fs)	rs387906323
NM_022437.3(ABCG8):c.691C>A (p.Pro231Thr)	rs137852993
NM_022437.3(ABCG8):c.881T>G (p.Leu294Ter)	rs762279471
NM_022437.3(ABCG8):c.904C>T (p.Gln302Ter)	rs1668974150
NM_022437.3(ABCG8):c.965-1G>C	rs957176669

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.