List of variants in gene JUP reported as benign by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002230.4(JUP):c.213T>C (p.Asp71=)	rs7405731	0.77675
NM_002230.4(JUP):c.2089A>T (p.Met697Leu)	rs1126821	0.66611
NM_002230.4(JUP):c.1653+10C>A	rs73983658	0.04634
NM_002230.4(JUP):c.425G>A (p.Arg142His)	rs41283425	0.03910
NM_002230.4(JUP):c.867C>T (p.Thr289=)	rs2230407	0.01475
NM_002230.4(JUP):c.1563A>G (p.Ala521=)	rs149926974	0.00712
NM_002230.4(JUP):c.1224C>T (p.Leu408=)	rs2230408	0.00620
NM_002230.4(JUP):c.777C>T (p.Gly259=)	rs34890640	0.00469
NM_002230.4(JUP):c.1054+7A>T	rs371988639	0.00049
NM_002230.4(JUP):c.510G>A (p.Ser170=)	rs140539043	0.00040
NM_002230.4(JUP):c.1377G>T (p.Leu459=)	rs147370522	0.00018
NM_002230.4(JUP):c.2031G>A (p.Pro677=)	rs188888662	0.00018
NM_002230.4(JUP):c.2139G>A (p.Pro713=)	rs782165431

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.