List of variants reported as benign for congenital generalized lipodystrophy type 4 by Illumina Laboratory Services, Illumina

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_012232.6(CAVIN1):c.*1749T>C	rs7212299	0.84147
NM_012232.6(CAVIN1):c.*190A>G	rs7207285	0.83659
NM_012232.6(CAVIN1):c.*815A>G	rs6416922	0.83632
NM_012232.6(CAVIN1):c.*458C>T	rs6416923	0.83625
NM_012232.6(CAVIN1):c.*766T>A	rs709631	0.57783
NM_012232.6(CAVIN1):c.*906G>A	rs1129422	0.13601
NM_012232.6(CAVIN1):c.*462C>T	rs111860392	0.02222
NM_012232.6(CAVIN1):c.927G>A (p.Ala309=)	rs112332573	0.01816
NM_012232.6(CAVIN1):c.843G>A (p.Leu281=)	rs35648297	0.01677
NM_012232.6(CAVIN1):c.*363C>T	rs75155493	0.00940
NM_012232.6(CAVIN1):c.*998G>A	rs35725766	0.00751
NM_012232.6(CAVIN1):c.*1591T>G	rs4796582
NM_012232.6(CAVIN1):c.*1704C>G	rs7210713

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.