List of variants reported as benign for Sitosterolemia

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: 25

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022437.3(ABCG8):c.-19T>G	rs3806471	0.36621
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu)	rs6720173	0.21159
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys)	rs6756629	0.06788
NM_022437.3(ABCG8):c.55G>C (p.Asp19His)	rs11887534	0.06566
NM_022436.3(ABCG5):c.785A>G (p.Lys262Arg)	rs78070897	0.01539
NM_022436.3(ABCG5):c.1550C>G (p.Thr517Ser)	rs17031672	0.01119
NM_022436.3(ABCG5):c.775-10G>T	rs114549158	0.00688
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val)	rs140374206	0.00461
NM_022436.3(ABCG5):c.1763-7T>G	rs114780578	0.00288
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly)	rs145164937	0.00198
NM_022436.3(ABCG5):c.1284C>T (p.Gly428=)	rs143972075	0.00186
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val)	rs140899003	0.00185
NM_022436.3(ABCG5):c.696C>T (p.Val232=)	rs72796720	0.00160
NM_022436.3(ABCG5):c.957C>T (p.Ser319=)	rs146131711	0.00145
NM_022436.3(ABCG5):c.501+11C>A	rs530079060	0.00067
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=)	rs150716811	0.00052
NM_022436.3(ABCG5):c.27C>T (p.Pro9=)	rs72542428	0.00033
NM_022436.3(ABCG5):c.442C>T (p.Leu148=)	rs143444046	0.00031
NM_022436.3(ABCG5):c.897C>T (p.Asp299=)	rs373237261	0.00020
NM_022436.3(ABCG5):c.1347C>T (p.Ser449=)	rs139361486	0.00019
NM_022436.3(ABCG5):c.1228A>C (p.Asn410His)	rs115590670
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)	rs72542426
NM_022436.3(ABCG5):c.501+11dup	rs200655485
NM_022436.3(ABCG5):c.501+16del	rs200655485
NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr)	rs770103215

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.