ClinVar Miner

List of variants in gene JUP reported as benign for Naxos disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_002230.4(JUP):c.1224C>T (p.Leu408=) rs2230408
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974
NM_002230.4(JUP):c.1653+10C>A rs73983658
NM_002230.4(JUP):c.1774-6C>T rs375016135
NM_002230.4(JUP):c.1807G>T (p.Val603Leu) rs200327969
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807
NM_002230.4(JUP):c.426C>T (p.Arg142=) rs142599474
NM_002230.4(JUP):c.510G>A (p.Ser170=) rs140539043
NM_002230.4(JUP):c.527G>A (p.Arg176Gln) rs144171604
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498
NM_002230.4(JUP):c.567C>T (p.Val189=) rs35297577
NM_002230.4(JUP):c.633C>T (p.Asn211=) rs372145644
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407

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.