ClinVar Miner

List of variants in gene JUP reported as uncertain significance for Arrhythmogenic right ventricular cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817 0.00036
NM_002230.4(JUP):c.1055-14del rs140002183 0.00006
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del) rs782439900 0.00006
NM_002230.4(JUP):c.560C>T (p.Ala187Val) rs782370709 0.00005
NM_002230.4(JUP):c.*19G>A rs782012233 0.00002
NM_002230.4(JUP):c.1500A>T (p.Ala500=) rs869025443 0.00001
NM_002230.4(JUP):c.1408G>A (p.Glu470Lys) rs1555602080
NM_002230.4(JUP):c.1587A>G (p.Gln529=) rs886052919
NM_002230.4(JUP):c.708-3C>A rs1555604620

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.