ClinVar Miner

List of variants in gene JUP reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.707+290C>T rs7406692 0.81398
NM_002230.4(JUP):c.213T>C (p.Asp71=) rs7405731 0.77675
NM_002230.4(JUP):c.2046+22A>G rs7216034 0.77249
NM_002230.4(JUP):c.708-128A>G rs9914693 0.75537
NM_002230.4(JUP):c.2047-115T>C rs9890858 0.72513
NM_002230.4(JUP):c.1774-34C>A rs8067890 0.71145
NM_002230.4(JUP):c.*225T>C rs4627408 0.70932
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821 0.66611
NM_002230.4(JUP):c.1158+344A>G rs8081732 0.66482
NM_002230.4(JUP):c.209-220G>A rs4796699 0.41025
NC_000017.11:g.41786813C>T rs12937988 0.22537
NM_002230.4(JUP):c.1158+178T>C rs12150619 0.10164
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_002230.4(JUP):c.1773+268T>C rs7217013 0.04293
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_002230.4(JUP):c.910-161C>T rs9911655 0.03823
NM_002230.4(JUP):c.469-48C>T rs75715269 0.03700
NM_002230.4(JUP):c.2046+180C>T rs9890521 0.03673
NM_002230.4(JUP):c.2046+190T>C rs9893041 0.03673
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807 0.03356
NM_002230.4(JUP):c.*709G>C rs56339743 0.03348
NM_002230.4(JUP):c.*286C>T rs73983656 0.03337
NM_002230.4(JUP):c.-8-224C>T rs75091829 0.03031
NM_002230.4(JUP):c.1498-252C>T rs58379004 0.02585
NM_002230.4(JUP):c.2046+169T>C rs77588113 0.01928
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_002230.4(JUP):c.707+136C>T rs116023576 0.01584
NM_002230.4(JUP):c.2047-14C>G rs116666639 0.00819
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_002230.4(JUP):c.1224C>T (p.Leu408=) rs2230408 0.00620
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640 0.00507
NM_002230.4(JUP):c.1159-13C>A rs201627219 0.00258
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464 0.00049
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_002230.4(JUP):c.527G>A (p.Arg176Gln) rs144171604 0.00016
NM_002230.4(JUP):c.708-4C>G rs201313464 0.00014
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_002230.4(JUP):c.762C>T (p.Leu254=) rs781805854 0.00006
NM_002230.4(JUP):c.66C>T (p.Tyr22=) rs782575179 0.00003
NM_002230.4(JUP):c.351C>T (p.Ala117=) rs397517300 0.00002
NM_002230.4(JUP):c.1815C>T (p.Ala605=) rs543862977 0.00001
NM_002230.4(JUP):c.525G>A (p.Ser175=) rs782794110 0.00001
NC_000017.11:g.41754526C>A rs8071562
NM_002230.4(JUP):c.1498-220_1498-219dup rs11404112
NM_002230.4(JUP):c.1498-220dup rs11404112
NM_002230.4(JUP):c.1925-17C>T rs1555598762
NM_002230.4(JUP):c.2087-113dup rs61064630
NM_002230.4(JUP):c.209-225T>G rs7405759
NM_002230.4(JUP):c.209-245_209-244dup rs11427331
NM_002230.4(JUP):c.209-245dup rs11427331
NM_002230.4(JUP):c.909+6C>T rs193922705

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.