ClinVar Miner

List of variants in gene JUP reported as uncertain significance for Arrhythmogenic right ventricular dysplasia 12

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.*21C>A rs41275669 0.00146
NM_002230.4(JUP):c.*771G>C rs569650118 0.00130
NM_002230.4(JUP):c.*787A>G rs551870163 0.00125
NM_002230.4(JUP):c.*98C>T rs112151379 0.00080
NM_002230.4(JUP):c.1054+7A>T rs371988639 0.00049
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464 0.00049
NM_002230.4(JUP):c.1807G>T (p.Val603Leu) rs200327969 0.00038
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817 0.00036
NM_002230.4(JUP):c.*339C>T rs575041614 0.00031
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262 0.00026
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503 0.00019
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.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_002230.4(JUP):c.*413C>T rs559600252 0.00015
NM_002230.4(JUP):c.2086+13C>T rs199935213 0.00015
NM_002230.4(JUP):c.801C>T (p.Ala267=) rs138397457 0.00014
NM_002230.3(JUP):c.*1136C>T rs539534709 0.00009
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln) rs555499592 0.00008
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_002230.4(JUP):c.*351G>A rs782725604 0.00006
NM_002230.4(JUP):c.561C>T (p.Ala187=) rs139552714 0.00006
NM_002230.4(JUP):c.*728A>C rs889216050 0.00005
NM_002230.4(JUP):c.*906A>C rs569644513 0.00005
NM_002230.4(JUP):c.1130G>A (p.Arg377His) rs794729044 0.00005
NM_002230.4(JUP):c.*87G>A rs375989026 0.00004
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093 0.00004
NM_002230.4(JUP):c.161C>T (p.Thr54Met) rs782529328 0.00004
NM_002230.4(JUP):c.1806C>T (p.Arg602=) rs781934535 0.00004
NM_002230.4(JUP):c.1902G>T (p.Leu634=) rs145808264 0.00004
NM_002230.4(JUP):c.1912A>C (p.Asn638His) rs782658008 0.00004
NM_002230.4(JUP):c.321G>A (p.Glu107=) rs781978743 0.00004
NM_002230.4(JUP):c.607C>T (p.Arg203Cys) rs147354282 0.00004
NM_002230.4(JUP):c.*567C>G rs886052914 0.00003
NM_002230.4(JUP):c.*573C>T rs886052913 0.00003
NM_002230.4(JUP):c.*670G>T rs782166986 0.00003
NM_002230.4(JUP):c.1218C>T (p.Asn406=) rs782565128 0.00003
NM_002230.4(JUP):c.1995C>T (p.Ser665=) rs782094877 0.00003
NM_002230.4(JUP):c.467C>T (p.Pro156Leu) rs782052422 0.00003
NM_002230.4(JUP):c.509C>T (p.Ser170Leu) rs782284038 0.00003
NM_002230.4(JUP):c.*316G>A rs910457325 0.00002
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474 0.00002
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala) rs782653485 0.00002
NM_002230.4(JUP):c.2208G>A (p.Pro736=) rs371508357 0.00002
NM_002230.4(JUP):c.694G>A (p.Val232Ile) rs137989964 0.00002
NM_002230.4(JUP):c.*436G>A rs886052915 0.00001
NM_002230.4(JUP):c.100G>A (p.Val34Met) rs794729029 0.00001
NM_002230.4(JUP):c.1347C>T (p.Asp449=) rs763261901 0.00001
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys) rs782309611 0.00001
NM_002230.4(JUP):c.1815C>T (p.Ala605=) rs543862977 0.00001
NM_002230.4(JUP):c.1854C>T (p.Ala618=) rs782176670 0.00001
NM_002230.4(JUP):c.192G>A (p.Gly64=) rs141237794 0.00001
NM_002230.4(JUP):c.2084A>G (p.Asp695Gly) rs781859850 0.00001
NM_002230.4(JUP):c.2087-5C>T rs886052917 0.00001
NM_002230.4(JUP):c.424C>T (p.Arg142Cys) rs199591001 0.00001
NM_002230.4(JUP):c.469-12T>C rs782699765 0.00001
NM_002230.4(JUP):c.534C>T (p.Ala178=) rs1916171269 0.00001
NM_002230.4(JUP):c.708-12C>G rs781970079 0.00001
NM_002230.4(JUP):c.818T>C (p.Met273Thr) rs782091454 0.00001
NM_002230.4(JUP):c.967A>G (p.Ser323Gly) rs781857323 0.00001
NM_002230.4(JUP):c.*1014C>T rs1292357653
NM_002230.4(JUP):c.*1026G>A rs187950810
NM_002230.4(JUP):c.*18C>T rs200222165
NM_002230.4(JUP):c.*409C>G rs1025065671
NM_002230.4(JUP):c.*497A>T rs1913504384
NM_002230.4(JUP):c.*593C>T rs1913479153
NM_002230.4(JUP):c.1105G>T (p.Val369Leu) rs1915425116
NM_002230.4(JUP):c.1617G>A (p.Gln539=) rs1012247750
NM_002230.4(JUP):c.1705A>C (p.Ile569Leu) rs370101446
NM_002230.4(JUP):c.1718A>T (p.Asp573Val) rs886052918
NM_002230.4(JUP):c.1824G>A (p.Leu608=) rs376043057
NM_002230.4(JUP):c.1976A>G (p.Asp659Gly) rs782124059
NM_002230.4(JUP):c.2232G>A (p.Leu744=) rs1913590161
NM_002230.4(JUP):c.275G>A (p.Gly92Asp) rs782737074
NM_002230.4(JUP):c.311C>G (p.Thr104Ser)
NM_002230.4(JUP):c.375G>C (p.Ser125=) rs111344340
NM_002230.4(JUP):c.519G>A (p.Glu173=) rs1916176553
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002230.4(JUP):c.931G>A (p.Gly311Arg) rs1915488679
NM_002230.4(JUP):c.973G>A (p.Glu325Lys) rs781974007

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.