ClinVar Miner

List of variants in gene JUP reported as likely benign for Cardiovascular phenotype

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Gene type:
ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.567C>T (p.Val189=) rs35297577 0.00090
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464 0.00049
NM_002230.4(JUP):c.510G>A (p.Ser170=) rs140539043 0.00041
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.633C>T (p.Asn211=) rs372145644 0.00036
NM_002230.4(JUP):c.459C>T (p.Asp153=) rs376289528 0.00029
NM_002230.4(JUP):c.1910G>A (p.Arg637His) rs142095597 0.00025
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser) rs376051686 0.00021
NM_002230.4(JUP):c.258G>A (p.Arg86=) rs147159111 0.00020
NM_002230.4(JUP):c.1941C>T (p.Ala647=) rs368865601 0.00019
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.1582G>A (p.Val528Ile) rs368271628 0.00018
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662 0.00018
NM_002230.4(JUP):c.426C>T (p.Arg142=) rs142599474 0.00018
NM_002230.4(JUP):c.1296C>T (p.Asn432=) rs544224850 0.00017
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.84G>A (p.Ser28=) rs144137028 0.00014
NM_002230.4(JUP):c.1365C>T (p.Ala455=) rs77375949 0.00013
NM_002230.4(JUP):c.545C>T (p.Ser182Leu) rs145592971 0.00013
NM_002230.4(JUP):c.1959C>T (p.Ser653=) rs375451560 0.00012
NM_002230.4(JUP):c.1989C>T (p.Arg663=) rs145175985 0.00011
NM_002230.4(JUP):c.608G>A (p.Arg203His) rs200221163 0.00010
NM_002230.4(JUP):c.926A>G (p.Asn309Ser) rs140606359 0.00010
NM_002230.4(JUP):c.1372G>A (p.Ala458Thr) rs139559495 0.00009
NM_002230.4(JUP):c.578T>C (p.Met193Thr) rs139496777 0.00009
NM_002230.4(JUP):c.892G>A (p.Gly298Ser) rs199597864 0.00009
NM_002230.4(JUP):c.475G>T (p.Val159Leu) rs782702266 0.00008
NM_002230.4(JUP):c.809T>A (p.Leu270Gln) rs794729040 0.00008
NM_002230.4(JUP):c.891C>T (p.Tyr297=) rs397517302 0.00008
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu) rs782622653 0.00007
NM_002230.4(JUP):c.2230C>T (p.Leu744=) rs782069599 0.00007
NM_002230.4(JUP):c.356C>T (p.Pro119Leu) rs376123010 0.00007
NM_002230.4(JUP):c.427G>A (p.Ala143Thr) rs375788626 0.00007
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007 0.00007
NM_002230.4(JUP):c.529C>T (p.Arg177Trp) rs148484473 0.00007
NM_002230.4(JUP):c.1713C>G (p.Ala571=) rs138446862 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 0.00006
NM_002230.4(JUP):c.1912A>C (p.Asn638His) rs782658008 0.00006
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del) rs782439900 0.00006
NM_002230.4(JUP):c.530G>A (p.Arg177Gln) rs371481933 0.00006
NM_002230.4(JUP):c.561C>T (p.Ala187=) rs139552714 0.00006
NM_002230.4(JUP):c.762C>T (p.Leu254=) rs781805854 0.00006
NM_002230.4(JUP):c.778G>A (p.Ala260Thr) rs149623442 0.00006
NM_002230.4(JUP):c.972T>C (p.Tyr324=) rs781889333 0.00006
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr) rs782301706 0.00005
NM_002230.4(JUP):c.1452C>T (p.Ala484=) rs374831874 0.00005
NM_002230.4(JUP):c.1455C>T (p.Ile485=) rs368692517 0.00005
NM_002230.4(JUP):c.1710C>T (p.Leu570=) rs375801194 0.00005
NM_002230.4(JUP):c.1857C>T (p.Asp619=) rs782623854 0.00005
NM_002230.4(JUP):c.412G>A (p.Glu138Lys) rs150245906 0.00005
NM_002230.4(JUP):c.460G>A (p.Glu154Lys) rs782765314 0.00005
NM_002230.4(JUP):c.560C>T (p.Ala187Val) rs782370709 0.00005
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093 0.00004
NM_002230.4(JUP):c.115A>G (p.Ser39Gly) rs782211863 0.00004
NM_002230.4(JUP):c.1280C>T (p.Thr427Met) rs781982717 0.00004
NM_002230.4(JUP):c.1331G>A (p.Arg444His) rs369507567 0.00004
NM_002230.4(JUP):c.1371C>T (p.Cys457=) rs531692563 0.00004
NM_002230.4(JUP):c.1715G>A (p.Arg572Gln) rs397517298 0.00004
NM_002230.4(JUP):c.1880C>T (p.Ser627Leu) rs781883243 0.00004
NM_002230.4(JUP):c.1882G>A (p.Ala628Thr) rs730880114 0.00004
NM_002230.4(JUP):c.1902G>T (p.Leu634=) rs145808264 0.00004
NM_002230.4(JUP):c.1914C>T (p.Asn638=) rs368772249 0.00004
NM_002230.4(JUP):c.1932C>T (p.Tyr644=) rs201704572 0.00004
NM_002230.4(JUP):c.1945C>T (p.Leu649=) rs149148171 0.00004
NM_002230.4(JUP):c.2122G>A (p.Asp708Asn) rs781804177 0.00004
NM_002230.4(JUP):c.522G>A (p.Ala174=) rs782745301 0.00004
NM_002230.4(JUP):c.607C>T (p.Arg203Cys) rs147354282 0.00004
NM_002230.4(JUP):c.945C>T (p.Leu315=) rs146804895 0.00004
NM_002230.4(JUP):c.1218C>T (p.Asn406=) rs782565128 0.00003
NM_002230.4(JUP):c.1222C>T (p.Leu408Phe) rs369755953 0.00003
NM_002230.4(JUP):c.1290A>G (p.Thr430=) rs897549158 0.00003
NM_002230.4(JUP):c.1430G>A (p.Arg477His) rs781788038 0.00003
NM_002230.4(JUP):c.1995C>T (p.Ser665=) rs782094877 0.00003
NM_002230.4(JUP):c.2189G>A (p.Ser730Asn) rs782261124 0.00003
NM_002230.4(JUP):c.357G>A (p.Pro119=) rs782579395 0.00003
NM_002230.4(JUP):c.435C>T (p.Pro145=) rs781786854 0.00003
NM_002230.4(JUP):c.474G>A (p.Val158=) rs572405296 0.00003
NM_002230.4(JUP):c.509C>T (p.Ser170Leu) rs782284038 0.00003
NM_002230.4(JUP):c.66C>T (p.Tyr22=) rs782575179 0.00003
NM_002230.4(JUP):c.723G>A (p.Ser241=) rs564635690 0.00003
NM_002230.4(JUP):c.789C>T (p.Ala263=) rs781822316 0.00003
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474 0.00002
NM_002230.4(JUP):c.1407C>T (p.Ala469=) rs782450410 0.00002
NM_002230.4(JUP):c.159C>T (p.Tyr53=) rs370760069 0.00002
NM_002230.4(JUP):c.1784C>T (p.Ser595Leu) rs782130740 0.00002
NM_002230.4(JUP):c.1865A>T (p.Asp622Val) rs1021325325 0.00002
NM_002230.4(JUP):c.2208G>A (p.Pro736=) rs371508357 0.00002
NM_002230.4(JUP):c.351C>T (p.Ala117=) rs397517300 0.00002
NM_002230.4(JUP):c.447A>G (p.Lys149=) rs199853316 0.00002
NM_002230.4(JUP):c.654G>A (p.Gly218=) rs112105828 0.00002
NM_002230.4(JUP):c.660C>T (p.Leu220=) rs782771003 0.00002
NM_002230.4(JUP):c.682A>G (p.Ile228Val) rs374566089 0.00002
NM_002230.4(JUP):c.694G>A (p.Val232Ile) rs137989964 0.00002
NM_002230.4(JUP):c.765G>A (p.Leu255=) rs782535119 0.00002
NM_002230.4(JUP):c.804C>T (p.Asp268=) rs782667629 0.00002
NM_002230.4(JUP):c.99C>T (p.Cys33=) rs139172952 0.00002
NM_002230.4(JUP):c.1080C>T (p.His360=) rs1406214813 0.00001
NM_002230.4(JUP):c.1128G>A (p.Leu376=) rs781926392 0.00001
NM_002230.4(JUP):c.1165C>T (p.Leu389=) rs1057523570 0.00001
NM_002230.4(JUP):c.1204G>A (p.Val402Met) rs782241125 0.00001
NM_002230.4(JUP):c.1236G>A (p.Thr412=) rs376391674 0.00001
NM_002230.4(JUP):c.1262A>G (p.Asn421Ser) rs782135453 0.00001
NM_002230.4(JUP):c.1347C>T (p.Asp449=) rs763261901 0.00001
NM_002230.4(JUP):c.1380C>T (p.Arg460=) rs782212737 0.00001
NM_002230.4(JUP):c.1506C>T (p.Ile502=) rs372963143 0.00001
NM_002230.4(JUP):c.1566G>A (p.Ala522=) rs547437428 0.00001
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys) rs782309611 0.00001
NM_002230.4(JUP):c.1623C>T (p.His541=) rs782477974 0.00001
NM_002230.4(JUP):c.1762C>T (p.Leu588=) rs781900856 0.00001
NM_002230.4(JUP):c.1770G>A (p.Val590=) rs782444566 0.00001
NM_002230.4(JUP):c.1785G>A (p.Ser595=) rs782816522 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.2193C>T (p.Asp731=) rs199683273 0.00001
NM_002230.4(JUP):c.266T>C (p.Met89Thr) rs542745694 0.00001
NM_002230.4(JUP):c.411C>T (p.Ala137=) rs782089101 0.00001
NM_002230.4(JUP):c.414G>A (p.Glu138=) rs370003514 0.00001
NM_002230.4(JUP):c.525G>A (p.Ser175=) rs782794110 0.00001
NM_002230.4(JUP):c.591C>T (p.Ser197=) rs781813778 0.00001
NM_002230.4(JUP):c.601A>G (p.Thr201Ala) rs781999758 0.00001
NM_002230.4(JUP):c.661G>A (p.Ala221Thr) rs782076415 0.00001
NM_002230.4(JUP):c.680G>A (p.Gly227Asp) rs782010606 0.00001
NM_002230.4(JUP):c.807G>T (p.Gly269=) rs781992518 0.00001
NM_002230.4(JUP):c.87C>T (p.Gly29=) rs199530395 0.00001
NM_002230.4(JUP):c.928G>A (p.Gly310Ser) rs1597808505 0.00001
NM_002230.4(JUP):c.936C>G (p.Pro312=) rs375094290 0.00001
NM_002230.4(JUP):c.942C>T (p.Ala314=) rs782573436 0.00001
NM_002230.4(JUP):c.950A>T (p.Gln317Leu) rs782509792 0.00001
NM_002230.4(JUP):c.969T>C (p.Ser323=) rs868945297 0.00001
NM_002230.4(JUP):c.990C>T (p.Thr330=) rs1057521340 0.00001
NM_002230.4(JUP):c.1012C>T (p.Leu338=)
NM_002230.4(JUP):c.1104G>C (p.Leu368=) rs1555603199
NM_002230.4(JUP):c.1212C>T (p.Asp404=) rs1482026041
NM_002230.4(JUP):c.1233C>A (p.Ala411=)
NM_002230.4(JUP):c.1281G>A (p.Thr427=) rs373544304
NM_002230.4(JUP):c.1317C>T (p.Ile439=)
NM_002230.4(JUP):c.1356G>A (p.Thr452=)
NM_002230.4(JUP):c.1386C>T (p.Leu462=)
NM_002230.4(JUP):c.147C>T (p.Cys49=) rs200001999
NM_002230.4(JUP):c.1509C>T (p.Gly503=) rs782445315
NM_002230.4(JUP):c.1605C>T (p.His535=)
NM_002230.4(JUP):c.1722C>G (p.Pro574=) rs1016855983
NM_002230.4(JUP):c.1725G>T (p.Met575Ile)
NM_002230.4(JUP):c.1797C>T (p.Asn599=)
NM_002230.4(JUP):c.1815C>G (p.Ala605=)
NM_002230.4(JUP):c.1824G>A (p.Leu608=) rs376043057
NM_002230.4(JUP):c.1863T>C (p.Ile621=)
NM_002230.4(JUP):c.1881G>A (p.Ser627=)
NM_002230.4(JUP):c.1956C>T (p.Ile652=)
NM_002230.4(JUP):c.197C>T (p.Pro66Leu)
NM_002230.4(JUP):c.1996G>T (p.Val666Leu) rs372369061
NM_002230.4(JUP):c.2046T>A (p.Ala682=) rs782632671
NM_002230.4(JUP):c.2139G>A (p.Pro713=) rs782165431
NM_002230.4(JUP):c.2151C>T (p.His717=)
NM_002230.4(JUP):c.2190C>T (p.Ser730=)
NM_002230.4(JUP):c.2208G>T (p.Pro736=) rs371508357
NM_002230.4(JUP):c.2214C>T (p.Pro738=)
NM_002230.4(JUP):c.2215A>G (p.Thr739Ala)
NM_002230.4(JUP):c.2220A>G (p.Ala740=) rs142102308
NM_002230.4(JUP):c.285C>A (p.Gly95=)
NM_002230.4(JUP):c.330C>T (p.Ala110=)
NM_002230.4(JUP):c.375G>A (p.Ser125=) rs111344340
NM_002230.4(JUP):c.375G>C (p.Ser125=) rs111344340
NM_002230.4(JUP):c.408T>C (p.Asp136=)
NM_002230.4(JUP):c.456C>T (p.Asn152=) rs781907298
NM_002230.4(JUP):c.462G>A (p.Glu154=)
NM_002230.4(JUP):c.549C>G (p.Pro183=) rs112787493
NM_002230.4(JUP):c.639C>T (p.Ser213=) rs782266138
NM_002230.4(JUP):c.693G>T (p.Leu231=)
NM_002230.4(JUP):c.708-3dup rs782230165
NM_002230.4(JUP):c.717G>C (p.Val239=)
NM_002230.4(JUP):c.747G>A (p.Thr249=)
NM_002230.4(JUP):c.75T>G (p.Gly25=)
NM_002230.4(JUP):c.762C>G (p.Leu254=) rs781805854
NM_002230.4(JUP):c.798G>A (p.Leu266=)
NM_002230.4(JUP):c.813A>G (p.Gln271=) rs1597817544
NM_002230.4(JUP):c.825C>G (p.Pro275=)
NM_002230.4(JUP):c.831C>G (p.Leu277=)
NM_002230.4(JUP):c.87C>G (p.Gly29=)
NM_002230.4(JUP):c.959G>A (p.Arg320His) rs781965392

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