List of variants in gene APOB reported as uncertain significance by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu)	rs72653095	0.00267
NM_000384.3(APOB):c.12766G>A (p.Glu4256Lys)	rs61743313	0.00198
NM_000384.3(APOB):c.4178C>T (p.Ala1393Val)	rs143282164	0.00073
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr)	rs200261177	0.00020
NM_000384.3(APOB):c.7721C>T (p.Ala2574Val)	rs150843941	0.00016
NM_000384.3(APOB):c.574G>A (p.Val192Ile)	rs200662943	0.00011
NM_000384.3(APOB):c.3670C>T (p.Arg1224Trp)	rs148959244	0.00010
NM_000384.3(APOB):c.4027C>T (p.Pro1343Ser)	rs374427541	0.00001
NM_000384.3(APOB):c.1310G>A (p.Arg437His)
NM_000384.3(APOB):c.13153C>T (p.Arg4385Cys)	rs864309556
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.3362A>G (p.Lys1121Arg)	rs879255342
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)

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.