Variants in gene HUWE1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status:		Submission 2 (likely benign) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=)	rs140734968	0.00558
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=)	rs149893977	0.00142
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala)	rs145758265	0.00081
NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val)	rs142574684	0.00025
NM_031407.7(HUWE1):c.147C>T (p.Cys49=)	rs149435515	0.00006
NM_031407.7(HUWE1):c.11996+9C>T	rs782772316	0.00003
NM_031407.7(HUWE1):c.1000A>G (p.Ile334Val)	rs781928056	0.00002
NM_031407.7(HUWE1):c.1188C>T (p.Tyr396=)	rs782115290	0.00002
NM_031407.7(HUWE1):c.1243-8C>T	rs781931508	0.00002
NM_031407.7(HUWE1):c.6073G>A (p.Ala2025Thr)	rs782688724	0.00002
NM_031407.7(HUWE1):c.6149G>A (p.Arg2050Gln)	rs782428636	0.00002
NM_031407.7(HUWE1):c.10145G>C (p.Ser3382Thr)	rs782307186	0.00001
NM_031407.7(HUWE1):c.1142A>C (p.Gln381Pro)	rs1012962799	0.00001
NM_031407.7(HUWE1):c.10476CAC[3] (p.Thr3496del)
NM_031407.7(HUWE1):c.8206+6T>C
NM_031407.7(HUWE1):c.9920G>T (p.Gly3307Val)

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.