List of variants reported as uncertain significance for Sitosterolemia 2 by New York Genome Center

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)	rs144973796	0.00121
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu)	rs201889290	0.00103
NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg)	rs142125966	0.00047
NM_022436.3(ABCG5):c.1528C>A (p.His510Asn)	rs199984328	0.00025
NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met)	rs149418765	0.00015
NM_022436.3(ABCG5):c.1250A>G (p.Gln417Arg)	rs1044958111	0.00004
NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile)	rs143402711	0.00004
NM_022436.3(ABCG5):c.1210G>A (p.Val404Ile)	rs200396635	0.00003
NM_022436.3(ABCG5):c.599G>A (p.Arg200Gln)	rs751809765	0.00002
NM_022436.3(ABCG5):c.1799G>A (p.Cys600Tyr)	rs779109455	0.00001
NM_022436.3(ABCG5):c.1175A>C (p.Gln392Pro)	rs1426495331
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)	rs72542426
NM_022436.3(ABCG5):c.529C>G (p.Leu177Val)	rs1305628120

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.