ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 504
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.*771G>C rs569650118 0.00130
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817 0.00036
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.1582G>A (p.Val528Ile) rs368271628 0.00018
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_002230.4(JUP):c.*413C>T rs559600252 0.00015
NM_002230.4(JUP):c.545C>T (p.Ser182Leu) rs145592971 0.00013
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_002230.4(JUP):c.1565C>T (p.Ala522Val) rs1060502679 0.00010
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_002230.3(JUP):c.*1136C>T rs539534709 0.00009
NM_002230.4(JUP):c.1372G>A (p.Ala458Thr) rs139559495 0.00009
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) rs752594411 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.2030C>T (p.Pro677Leu) rs782622653 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.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_002230.4(JUP):c.109G>A (p.Val37Ile) rs150769772 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 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.568G>A (p.Val190Met) rs370143312 0.00006
NM_002230.4(JUP):c.778G>A (p.Ala260Thr) rs149623442 0.00006
NM_002230.4(JUP):c.*906A>C rs569644513 0.00005
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr) rs782301706 0.00005
NM_002230.4(JUP):c.1130G>A (p.Arg377His) rs794729044 0.00005
NM_002230.4(JUP):c.2102A>G (p.Tyr701Cys) rs781857012 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.989C>A (p.Thr330Asn) rs782145797 0.00005
NM_002230.4(JUP):c.998G>A (p.Arg333His) rs727503099 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.1219G>A (p.Val407Ile) rs370913228 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.1359G>T (p.Glu453Asp) rs376608339 0.00004
NM_002230.4(JUP):c.1430G>A (p.Arg477His) rs781788038 0.00004
NM_002230.4(JUP):c.1486C>A (p.Pro496Thr) rs1220042864 0.00004
NM_002230.4(JUP):c.1550C>T (p.Pro517Leu) rs781988240 0.00004
NM_002230.4(JUP):c.161C>T (p.Thr54Met) rs782529328 0.00004
NM_002230.4(JUP):c.1653G>A (p.Thr551=) rs782044013 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.1912A>C (p.Asn638His) rs782658008 0.00004
NM_002230.4(JUP):c.2104C>T (p.Arg702Cys) rs545547083 0.00004
NM_002230.4(JUP):c.2105G>A (p.Arg702His) rs200690479 0.00004
NM_002230.4(JUP):c.2122G>A (p.Asp708Asn) rs781804177 0.00004
NM_002230.4(JUP):c.2128C>T (p.Pro710Ser) rs782693565 0.00004
NM_002230.4(JUP):c.257G>A (p.Arg86Gln) rs782341732 0.00004
NM_002230.4(JUP):c.329C>T (p.Ala110Val) rs782770278 0.00004
NM_002230.4(JUP):c.493A>G (p.Ile165Val) rs782461741 0.00004
NM_002230.4(JUP):c.607C>T (p.Arg203Cys) rs147354282 0.00004
NM_002230.4(JUP):c.624C>G (p.Ile208Met) rs566435665 0.00004
NM_002230.4(JUP):c.746C>T (p.Thr249Met) rs377612199 0.00004
NM_002230.4(JUP):c.1099C>G (p.Arg367Gly) rs76416187 0.00003
NM_002230.4(JUP):c.1222C>T (p.Leu408Phe) rs369755953 0.00003
NM_002230.4(JUP):c.1235C>T (p.Thr412Met) rs782551865 0.00003
NM_002230.4(JUP):c.1379G>A (p.Arg460His) rs397517296 0.00003
NM_002230.4(JUP):c.1439A>G (p.Tyr480Cys) rs782756834 0.00003
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys) rs782354654 0.00003
NM_002230.4(JUP):c.1933G>A (p.Ala645Thr) rs727504778 0.00003
NM_002230.4(JUP):c.1996G>A (p.Val666Met) rs372369061 0.00003
NM_002230.4(JUP):c.2021A>G (p.Lys674Arg) rs1914011596 0.00003
NM_002230.4(JUP):c.2189G>A (p.Ser730Asn) rs782261124 0.00003
NM_002230.4(JUP):c.332C>T (p.Thr111Ile) rs782080859 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.1324A>T (p.Ile442Phe) rs142213474 0.00002
NM_002230.4(JUP):c.1354A>T (p.Thr452Ser) rs794729045 0.00002
NM_002230.4(JUP):c.148G>A (p.Gly50Arg) rs374008304 0.00002
NM_002230.4(JUP):c.1490T>G (p.Leu497Arg) rs1327324458 0.00002
NM_002230.4(JUP):c.1513A>G (p.Ile505Val) rs955019712 0.00002
NM_002230.4(JUP):c.1618C>T (p.Arg540Cys) rs782455234 0.00002
NM_002230.4(JUP):c.1714C>T (p.Arg572Trp) rs559297418 0.00002
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala) rs782653485 0.00002
NM_002230.4(JUP):c.1804C>T (p.Arg602Cys) rs199511559 0.00002
NM_002230.4(JUP):c.1850C>T (p.Ala617Val) rs782465804 0.00002
NM_002230.4(JUP):c.1865A>T (p.Asp622Val) rs1021325325 0.00002
NM_002230.4(JUP):c.2153T>C (p.Met718Thr) rs782336064 0.00002
NM_002230.4(JUP):c.2191G>A (p.Asp731Asn) rs782647137 0.00002
NM_002230.4(JUP):c.2194G>A (p.Gly732Ser) rs781885294 0.00002
NM_002230.4(JUP):c.274G>T (p.Gly92Cys) rs781875765 0.00002
NM_002230.4(JUP):c.286G>A (p.Glu96Lys) rs191683892 0.00002
NM_002230.4(JUP):c.436G>A (p.Glu146Lys) rs146581757 0.00002
NM_002230.4(JUP):c.502C>G (p.Gln168Glu) rs1322804388 0.00002
NM_002230.4(JUP):c.521C>T (p.Ala174Val) rs146786437 0.00002
NM_002230.4(JUP):c.524C>T (p.Ser175Leu) rs782435477 0.00002
NM_002230.4(JUP):c.533C>T (p.Ala178Val) rs781976753 0.00002
NM_002230.4(JUP):c.572G>A (p.Arg191His) rs143502391 0.00002
NM_002230.4(JUP):c.646C>T (p.Arg216Trp) rs1490199319 0.00002
NM_002230.4(JUP):c.675G>A (p.Ser225=) rs782063643 0.00002
NM_002230.4(JUP):c.682A>G (p.Ile228Val) rs374566089 0.00002
NM_002230.4(JUP):c.833A>G (p.Asn278Ser) rs541560189 0.00002
NM_002230.4(JUP):c.951G>C (p.Gln317His) rs782215140 0.00002
NM_002230.4(JUP):c.964T>C (p.Tyr322His) rs557075259 0.00002
NM_002230.4(JUP):c.100G>A (p.Val34Met) rs794729029 0.00001
NM_002230.4(JUP):c.1069C>G (p.Leu357Val) rs1455055075 0.00001
NM_002230.4(JUP):c.107C>T (p.Ser36Phe) rs1555607036 0.00001
NM_002230.4(JUP):c.1096C>A (p.Pro366Thr) rs782690097 0.00001
NM_002230.4(JUP):c.1096C>G (p.Pro366Ala) rs782690097 0.00001
NM_002230.4(JUP):c.1100G>T (p.Arg367Leu) rs782067441 0.00001
NM_002230.4(JUP):c.1129C>A (p.Arg377Ser) rs368564000 0.00001
NM_002230.4(JUP):c.1158+2_1158+4dup rs782280458 0.00001
NM_002230.4(JUP):c.1204G>A (p.Val402Met) rs782241125 0.00001
NM_002230.4(JUP):c.1213G>A (p.Val405Ile) rs200019016 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.1300G>A (p.Gly434Ser) rs1555602250 0.00001
NM_002230.4(JUP):c.1308G>T (p.Glu436Asp) rs782594495 0.00001
NM_002230.4(JUP):c.1330C>T (p.Arg444Cys) rs781793865 0.00001
NM_002230.4(JUP):c.1333G>C (p.Ala445Pro) rs782465430 0.00001
NM_002230.4(JUP):c.1336G>T (p.Gly446Cys) rs781876461 0.00001
NM_002230.4(JUP):c.1355C>T (p.Thr452Met) rs781888888 0.00001
NM_002230.4(JUP):c.136G>A (p.Asp46Asn) rs782308879 0.00001
NM_002230.4(JUP):c.1378C>T (p.Arg460Cys) rs782575391 0.00001
NM_002230.4(JUP):c.1391G>A (p.Ser464Asn) rs1060502681 0.00001
NM_002230.4(JUP):c.1394G>A (p.Arg465His) rs369486398 0.00001
NM_002230.4(JUP):c.1400C>T (p.Pro467Leu) rs782667501 0.00001
NM_002230.4(JUP):c.151C>T (p.Arg51Cys) rs782254006 0.00001
NM_002230.4(JUP):c.152G>A (p.Arg51His) rs571707598 0.00001
NM_002230.4(JUP):c.1555C>G (p.Gln519Glu) rs139454583 0.00001
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys) rs782309611 0.00001
NM_002230.4(JUP):c.1586A>T (p.Gln529Leu) rs1914310860 0.00001
NM_002230.4(JUP):c.1606C>G (p.Gln536Glu) rs782683108 0.00001
NM_002230.4(JUP):c.160A>G (p.Thr54Ala) rs781784933 0.00001
NM_002230.4(JUP):c.1619G>T (p.Arg540Leu) rs376881608 0.00001
NM_002230.4(JUP):c.1624G>A (p.Val542Ile) rs571375136 0.00001
NM_002230.4(JUP):c.1631C>T (p.Ala544Val) rs782762751 0.00001
NM_002230.4(JUP):c.1652C>T (p.Thr551Met) rs1038719021 0.00001
NM_002230.4(JUP):c.1667T>C (p.Met556Thr) rs781884735 0.00001
NM_002230.4(JUP):c.1730G>A (p.Arg577His) rs373434456 0.00001
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp) rs782205755 0.00001
NM_002230.4(JUP):c.1760C>T (p.Pro587Leu) rs782490959 0.00001
NM_002230.4(JUP):c.1780T>A (p.Tyr594Asn) rs1555599033 0.00001
NM_002230.4(JUP):c.1787C>T (p.Ser596Leu) rs940226194 0.00001
NM_002230.4(JUP):c.1805G>A (p.Arg602His) rs909955430 0.00001
NM_002230.4(JUP):c.1868C>G (p.Ala623Gly) rs782760341 0.00001
NM_002230.4(JUP):c.1873G>C (p.Gly625Arg) rs1060502678 0.00001
NM_002230.4(JUP):c.1876G>A (p.Ala626Thr) rs782547688 0.00001
NM_002230.4(JUP):c.1883C>T (p.Ala628Val) rs1475273502 0.00001
NM_002230.4(JUP):c.1885C>T (p.Pro629Ser) rs1188860546 0.00001
NM_002230.4(JUP):c.1916A>G (p.Glu639Gly) rs1914057795 0.00001
NM_002230.4(JUP):c.1920C>T (p.Gly640=) rs376699725 0.00001
NM_002230.4(JUP):c.1990G>A (p.Val664Met) rs782695128 0.00001
NM_002230.4(JUP):c.200C>T (p.Pro67Leu) rs1427489722 0.00001
NM_002230.4(JUP):c.2060T>C (p.Ile687Thr) rs1181838480 0.00001
NM_002230.4(JUP):c.2078A>G (p.Tyr693Cys) rs782475413 0.00001
NM_002230.4(JUP):c.2084A>G (p.Asp695Gly) rs781859850 0.00001
NM_002230.4(JUP):c.2099C>T (p.Thr700Ile) rs1913627808 0.00001
NM_002230.4(JUP):c.211G>T (p.Asp71Tyr) rs781869872 0.00001
NM_002230.4(JUP):c.2132T>C (p.Leu711Pro) rs782096012 0.00001
NM_002230.4(JUP):c.2149C>G (p.His717Asp) rs1347008405 0.00001
NM_002230.4(JUP):c.2179G>A (p.Asp727Asn) rs1285789744 0.00001
NM_002230.4(JUP):c.21G>C (p.Met7Ile) rs782076076 0.00001
NM_002230.4(JUP):c.250C>T (p.Arg84Trp) rs782306414 0.00001
NM_002230.4(JUP):c.251G>A (p.Arg84Gln) rs782061304 0.00001
NM_002230.4(JUP):c.256C>T (p.Arg86Trp) rs782240305 0.00001
NM_002230.4(JUP):c.266T>C (p.Met89Thr) rs542745694 0.00001
NM_002230.4(JUP):c.285C>T (p.Gly95=) rs1555605900 0.00001
NM_002230.4(JUP):c.296C>T (p.Ser99Leu) rs554046226 0.00001
NM_002230.4(JUP):c.311C>A (p.Thr104Asn) rs1185864978 0.00001
NM_002230.4(JUP):c.315G>C (p.Gln105His) rs375489362 0.00001
NM_002230.4(JUP):c.335A>G (p.Asn112Ser) rs372364561 0.00001
NM_002230.4(JUP):c.344G>A (p.Arg115Gln) rs369722007 0.00001
NM_002230.4(JUP):c.374C>T (p.Ser125Leu) rs782527770 0.00001
NM_002230.4(JUP):c.406G>A (p.Asp136Asn) rs782392706 0.00001
NM_002230.4(JUP):c.424C>T (p.Arg142Cys) rs199591001 0.00001
NM_002230.4(JUP):c.485C>T (p.Ala162Val) rs369121094 0.00001
NM_002230.4(JUP):c.494T>C (p.Ile165Thr) rs1254146503 0.00001
NM_002230.4(JUP):c.562G>A (p.Ala188Thr) rs782585387 0.00001
NM_002230.4(JUP):c.571C>T (p.Arg191Cys) rs781905238 0.00001
NM_002230.4(JUP):c.592G>A (p.Asp198Asn) rs782799529 0.00001
NM_002230.4(JUP):c.601A>G (p.Thr201Ala) rs781999758 0.00001
NM_002230.4(JUP):c.628C>T (p.His210Tyr) rs1567818128 0.00001
NM_002230.4(JUP):c.647G>A (p.Arg216Gln) rs782498980 0.00001
NM_002230.4(JUP):c.661G>A (p.Ala221Thr) rs782076415 0.00001
NM_002230.4(JUP):c.674C>T (p.Ser225Leu) rs782685734 0.00001
NM_002230.4(JUP):c.680G>A (p.Gly227Asp) rs782010606 0.00001
NM_002230.4(JUP):c.697C>T (p.Arg233Cys) rs529126058 0.00001
NM_002230.4(JUP):c.698G>A (p.Arg233His) rs1304500107 0.00001
NM_002230.4(JUP):c.707+5C>A rs375580484 0.00001
NM_002230.4(JUP):c.71C>T (p.Ser24Leu) rs782460555 0.00001
NM_002230.4(JUP):c.764T>G (p.Leu255Arg) rs878854482 0.00001
NM_002230.4(JUP):c.782A>G (p.Lys261Arg) rs782527507 0.00001
NM_002230.4(JUP):c.788C>T (p.Ala263Val) rs1287470595 0.00001
NM_002230.4(JUP):c.794G>A (p.Arg265His) rs782440692 0.00001
NM_002230.4(JUP):c.818T>C (p.Met273Thr) rs782091454 0.00001
NM_002230.4(JUP):c.849G>T (p.Lys283Asn) rs794729054 0.00001
NM_002230.4(JUP):c.868G>A (p.Asp290Asn) rs982161216 0.00001
NM_002230.4(JUP):c.884T>C (p.Leu295Pro) rs1567815863 0.00001
NM_002230.4(JUP):c.88G>A (p.Ala30Thr) rs782733459 0.00001
NM_002230.4(JUP):c.928G>A (p.Gly310Ser) rs1597808505 0.00001
NM_002230.4(JUP):c.946G>A (p.Val316Met) rs782285849 0.00001
NM_002230.4(JUP):c.950A>T (p.Gln317Leu) rs782509792 0.00001
NM_002230.4(JUP):c.967A>G (p.Ser323Gly) rs781857323 0.00001
NM_002230.4(JUP):c.997C>T (p.Arg333Cys) rs782031185 0.00001
NC_000017.10:g.(?_39911986)_(39928116_?)dup
NM_002230.3(JUP):c.910_912dup (p.Leu304_Ile305insLeu) rs1567812900
NM_002230.4(JUP):c.*1026G>A rs187950810
NM_002230.4(JUP):c.1000G>A (p.Val334Met)
NM_002230.4(JUP):c.1013T>C (p.Leu338Pro) rs2143598327
NM_002230.4(JUP):c.1022G>A (p.Cys341Tyr) rs1567812537
NM_002230.4(JUP):c.1028G>A (p.Ser343Asn) rs1597808088
NM_002230.4(JUP):c.1036C>T (p.Pro346Ser)
NM_002230.4(JUP):c.1040C>T (p.Ala347Val) rs1915466603
NM_002230.4(JUP):c.1046T>C (p.Val349Ala)
NM_002230.4(JUP):c.1049A>G (p.Glu350Gly) rs1915464336
NM_002230.4(JUP):c.1054+3G>A
NM_002230.4(JUP):c.1055-3C>G rs1597807473
NM_002230.4(JUP):c.1057G>A (p.Gly353Arg)
NM_002230.4(JUP):c.1072G>C (p.Gly358Arg) rs1915435636
NM_002230.4(JUP):c.1082T>C (p.Leu361Pro) rs2143593694
NM_002230.4(JUP):c.1085C>T (p.Thr362Ile) rs1915432778
NM_002230.4(JUP):c.1088G>T (p.Ser363Ile) rs2143593479
NM_002230.4(JUP):c.1096C>T (p.Pro366Ser)
NM_002230.4(JUP):c.1097C>T (p.Pro366Leu)
NM_002230.4(JUP):c.1099C>T (p.Arg367Cys)
NM_002230.4(JUP):c.1100G>A (p.Arg367His) rs782067441
NM_002230.4(JUP):c.1129C>T (p.Arg377Cys) rs368564000
NM_002230.4(JUP):c.1139C>T (p.Ser380Leu)
NM_002230.4(JUP):c.113GCA[1] (p.Ser39del) rs113994176
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup) rs113994176
NM_002230.4(JUP):c.114C>A (p.Ser38Arg) rs782391511
NM_002230.4(JUP):c.1163G>A (p.Gly388Asp) rs1555602470
NM_002230.4(JUP):c.1193A>G (p.Asn398Ser)
NM_002230.4(JUP):c.1207G>T (p.Asp403Tyr)
NM_002230.4(JUP):c.1212C>A (p.Asp404Glu) rs1482026041
NM_002230.4(JUP):c.1218C>A (p.Asn406Lys)
NM_002230.4(JUP):c.121G>A (p.Gly41Ser)
NM_002230.4(JUP):c.122G>A (p.Gly41Asp)
NM_002230.4(JUP):c.1232C>T (p.Ala411Val) rs1060502680
NM_002230.4(JUP):c.1241C>T (p.Thr414Ile)
NM_002230.4(JUP):c.1247C>T (p.Ser416Phe)
NM_002230.4(JUP):c.1268G>A (p.Ser423Asn)
NM_002230.4(JUP):c.127A>G (p.Met43Val) rs1916678676
NM_002230.4(JUP):c.1283T>C (p.Leu428Pro)
NM_002230.4(JUP):c.129G>A (p.Met43Ile) rs1555606996
NM_002230.4(JUP):c.1301G>A (p.Gly434Asp)
NM_002230.4(JUP):c.1306G>A (p.Glu436Lys) rs1915172914
NM_002230.4(JUP):c.1312C>G (p.Leu438Val)
NM_002230.4(JUP):c.1318C>T (p.His440Tyr) rs1555602228
NM_002230.4(JUP):c.1320T>A (p.His440Gln)
NM_002230.4(JUP):c.1322C>A (p.Ala441Asp)
NM_002230.4(JUP):c.1339G>A (p.Asp447Asn) rs1915164389
NM_002230.4(JUP):c.133G>A (p.Glu45Lys)
NM_002230.4(JUP):c.1346A>G (p.Asp449Gly)
NM_002230.4(JUP):c.1346A>T (p.Asp449Val) rs1174382765
NM_002230.4(JUP):c.1348G>A (p.Asp450Asn)
NM_002230.4(JUP):c.1351A>G (p.Ile451Val)
NM_002230.4(JUP):c.135G>C (p.Glu45Asp) rs2143735253
NM_002230.4(JUP):c.1360C>T (p.Pro454Ser)
NM_002230.4(JUP):c.136G>T (p.Asp46Tyr)
NM_002230.4(JUP):c.1384C>T (p.Leu462Phe)
NM_002230.4(JUP):c.1393C>T (p.Arg465Cys)
NM_002230.4(JUP):c.1398C>A (p.His466Gln) rs1555602097
NM_002230.4(JUP):c.1410G>C (p.Glu470Asp) rs2143559758
NM_002230.4(JUP):c.1429C>T (p.Arg477Cys)
NM_002230.4(JUP):c.142G>C (p.Ala48Pro)
NM_002230.4(JUP):c.1432C>T (p.Leu478Phe)
NM_002230.4(JUP):c.143C>A (p.Ala48Asp) rs2143735114
NM_002230.4(JUP):c.1442G>T (p.Gly481Val)
NM_002230.4(JUP):c.1455C>G (p.Ile485Met)
NM_002230.4(JUP):c.1469A>G (p.Asn490Ser)
NM_002230.4(JUP):c.1470C>G (p.Asn490Lys)
NM_002230.4(JUP):c.1481A>G (p.Gln494Arg) rs2143558258
NM_002230.4(JUP):c.1482G>C (p.Gln494His) rs1367975995
NM_002230.4(JUP):c.1495A>C (p.Lys499Gln) rs782395614
NM_002230.4(JUP):c.1512G>T (p.Leu504Phe)
NM_002230.4(JUP):c.1525G>T (p.Ala509Ser) rs1555599847
NM_002230.4(JUP):c.1534C>G (p.Pro512Ala)
NM_002230.4(JUP):c.1544A>G (p.His515Arg) rs2143460147
NM_002230.4(JUP):c.1546G>A (p.Ala516Thr) rs2143460021
NM_002230.4(JUP):c.1547C>A (p.Ala516Asp) rs1255846046
NM_002230.4(JUP):c.1549C>T (p.Pro517Ser)
NM_002230.4(JUP):c.154C>A (p.Gln52Lys)
NM_002230.4(JUP):c.1556A>T (p.Gln519Leu) rs1060502677
NM_002230.4(JUP):c.1563_1565dup (p.Ala522_Val523insAla)
NM_002230.4(JUP):c.1565C>A (p.Ala522Glu) rs1060502679
NM_002230.4(JUP):c.1573C>T (p.Pro525Ser) rs1914314355
NM_002230.4(JUP):c.1574C>T (p.Pro525Leu)
NM_002230.4(JUP):c.1576C>A (p.Arg526Ser) rs782309611
NM_002230.4(JUP):c.1597A>G (p.Lys533Glu)
NM_002230.4(JUP):c.1619G>A (p.Arg540His) rs376881608
NM_002230.4(JUP):c.1622A>T (p.His541Leu) rs782449369
NM_002230.4(JUP):c.1625T>C (p.Val542Ala) rs2143457194
NM_002230.4(JUP):c.1634G>A (p.Gly545Asp)
NM_002230.4(JUP):c.1635C>T (p.Gly545=)
NM_002230.4(JUP):c.1642C>G (p.Gln548Glu)
NM_002230.4(JUP):c.1646C>A (p.Pro549His) rs1555599683
NM_002230.4(JUP):c.1653+4T>A
NM_002230.4(JUP):c.1653+5G>C
NM_002230.4(JUP):c.1653G>T (p.Thr551=)
NM_002230.4(JUP):c.1654-7C>A rs1395283149
NM_002230.4(JUP):c.1654G>A (p.Asp552Asn) rs2143451579
NM_002230.4(JUP):c.1658G>C (p.Gly553Ala) rs782759301
NM_002230.4(JUP):c.1658G>T (p.Gly553Val)
NM_002230.4(JUP):c.1688G>A (p.Cys563Tyr) rs142006878
NM_002230.4(JUP):c.1702C>T (p.His568Tyr) rs794729048
NM_002230.4(JUP):c.1705A>T (p.Ile569Phe) rs370101446
NM_002230.4(JUP):c.1711G>A (p.Ala571Thr) rs397517297
NM_002230.4(JUP):c.1711G>T (p.Ala571Ser) rs397517297
NM_002230.4(JUP):c.1715G>T (p.Arg572Leu) rs397517298
NM_002230.4(JUP):c.1717G>T (p.Asp573Tyr)
NM_002230.4(JUP):c.1725G>T (p.Met575Ile)
NM_002230.4(JUP):c.1738A>T (p.Ile580Phe)
NM_002230.4(JUP):c.1745G>A (p.Arg582Gln) rs781828085
NM_002230.4(JUP):c.1759C>T (p.Pro587Ser)
NM_002230.4(JUP):c.1762C>G (p.Leu588Val)
NM_002230.4(JUP):c.1773+3G>A rs1460748612
NM_002230.4(JUP):c.1774C>G (p.Leu592Val)
NM_002230.4(JUP):c.1778T>A (p.Leu593Gln)
NM_002230.4(JUP):c.1796A>G (p.Asn599Ser) rs1257379135
NM_002230.4(JUP):c.1807G>A (p.Val603Met) rs200327969
NM_002230.4(JUP):c.1816G>A (p.Gly606Arg)
NM_002230.4(JUP):c.1816G>C (p.Gly606Arg) rs1371912642
NM_002230.4(JUP):c.1825T>C (p.Cys609Arg)
NM_002230.4(JUP):c.1835C>G (p.Ala612Gly)
NM_002230.4(JUP):c.1842C>G (p.Asp614Glu) rs2143427860
NM_002230.4(JUP):c.1849G>A (p.Ala617Thr) rs397517299
NM_002230.4(JUP):c.185C>A (p.Thr62Asn) rs1555606943
NM_002230.4(JUP):c.1870G>C (p.Glu624Gln) rs2143426682
NM_002230.4(JUP):c.1871A>G (p.Glu624Gly) rs1914071758
NM_002230.4(JUP):c.1876G>C (p.Ala626Pro) rs782547688
NM_002230.4(JUP):c.188A>G (p.Gln63Arg)
NM_002230.4(JUP):c.1895A>G (p.Glu632Gly)
NM_002230.4(JUP):c.1910G>T (p.Arg637Leu)
NM_002230.4(JUP):c.1913A>C (p.Asn638Thr) rs561484928
NM_002230.4(JUP):c.1914C>G (p.Asn638Lys)
NM_002230.4(JUP):c.1925-9T>A rs2143420829
NM_002230.4(JUP):c.1927A>G (p.Thr643Ala) rs2143420466
NM_002230.4(JUP):c.1927A>T (p.Thr643Ser) rs2143420466
NM_002230.4(JUP):c.1934C>T (p.Ala645Val)
NM_002230.4(JUP):c.193G>A (p.Val65Met) rs727503100
NM_002230.4(JUP):c.193G>T (p.Val65Leu) rs727503100
NM_002230.4(JUP):c.1948T>C (p.Phe650Leu) rs1208908708
NM_002230.4(JUP):c.1951C>T (p.Arg651Cys)
NM_002230.4(JUP):c.1954A>G (p.Ile652Val) rs2143419427
NM_002230.4(JUP):c.1960G>A (p.Glu654Lys)
NM_002230.4(JUP):c.196C>T (p.Pro66Ser)
NM_002230.4(JUP):c.1972C>T (p.Pro658Ser)
NM_002230.4(JUP):c.1976A>G (p.Asp659Gly) rs782124059
NM_002230.4(JUP):c.1979A>G (p.Tyr660Cys) rs1555598672
NM_002230.4(JUP):c.197C>T (p.Pro66Leu)
NM_002230.4(JUP):c.1981C>T (p.Arg661Trp)
NM_002230.4(JUP):c.1987C>T (p.Arg663Cys)
NM_002230.4(JUP):c.1990G>C (p.Val664Leu) rs782695128
NM_002230.4(JUP):c.1994C>T (p.Ser665Phe) rs1555598615
NM_002230.4(JUP):c.1996G>T (p.Val666Leu) rs372369061
NM_002230.4(JUP):c.1_6del (p.Met1_Glu2del) rs1916704473
NM_002230.4(JUP):c.2002C>T (p.Leu668Phe)
NM_002230.4(JUP):c.2032G>A (p.Ala678Thr)
NM_002230.4(JUP):c.2035G>T (p.Ala679Ser)
NM_002230.4(JUP):c.2045C>T (p.Ala682Val)
NM_002230.4(JUP):c.2046T>C (p.Ala682=) rs782632671
NM_002230.4(JUP):c.2055C>T (p.Ser685=) rs1913708075
NM_002230.4(JUP):c.2073G>T (p.Glu691Asp) rs1162219431
NM_002230.4(JUP):c.2078A>C (p.Tyr693Ser) rs782475413
NM_002230.4(JUP):c.209-3del rs560947371
NM_002230.4(JUP):c.209G>A (p.Gly70Asp)
NM_002230.4(JUP):c.2108C>G (p.Pro703Arg) rs1008749253
NM_002230.4(JUP):c.2110A>G (p.Met704Val)
NM_002230.4(JUP):c.2112G>A (p.Met704Ile) rs1555597505
NM_002230.4(JUP):c.2114A>T (p.Tyr705Phe)
NM_002230.4(JUP):c.2118dup (p.Ser707fs) rs1913623011
NM_002230.4(JUP):c.2129C>A (p.Pro710His)
NM_002230.4(JUP):c.2137C>A (p.Pro713Thr) rs1555597496
NM_002230.4(JUP):c.2138C>T (p.Pro713Leu)
NM_002230.4(JUP):c.2141T>C (p.Leu714Pro) rs2143373822
NM_002230.4(JUP):c.2152A>G (p.Met718Val)
NM_002230.4(JUP):c.2156A>G (p.Asp719Gly) rs1283154446
NM_002230.4(JUP):c.2158A>G (p.Met720Val)
NM_002230.4(JUP):c.2162A>G (p.Asp721Gly)
NM_002230.4(JUP):c.2185T>A (p.Tyr729Asn) rs1555597428
NM_002230.4(JUP):c.2188A>G (p.Ser730Gly) rs1009184280
NM_002230.4(JUP):c.2197C>T (p.Leu733Phe)
NM_002230.4(JUP):c.21G>A (p.Met7Ile) rs782076076
NM_002230.4(JUP):c.2203C>T (p.Pro735Ser)
NM_002230.4(JUP):c.2204C>G (p.Pro735Arg) rs782574785
NM_002230.4(JUP):c.2204C>T (p.Pro735Leu) rs782574785
NM_002230.4(JUP):c.2215A>G (p.Thr739Ala)
NM_002230.4(JUP):c.2219C>T (p.Ala740Val)
NM_002230.4(JUP):c.2227A>G (p.Met743Val) rs1913591137
NM_002230.4(JUP):c.226A>G (p.Met76Val) rs782730235
NM_002230.4(JUP):c.228G>A (p.Met76Ile) rs202091411
NM_002230.4(JUP):c.230C>T (p.Ser77Phe)
NM_002230.4(JUP):c.232A>G (p.Thr78Ala) rs1916308035
NM_002230.4(JUP):c.238G>A (p.Ala80Thr)
NM_002230.4(JUP):c.248A>G (p.Lys83Arg)
NM_002230.4(JUP):c.250C>G (p.Arg84Gly) rs782306414
NM_002230.4(JUP):c.253G>C (p.Val85Leu) rs782425952
NM_002230.4(JUP):c.25C>G (p.Gln9Glu)
NM_002230.4(JUP):c.262_263delinsAA (p.Ala88Asn) rs1916297521
NM_002230.4(JUP):c.266T>A (p.Met89Lys)
NM_002230.4(JUP):c.269G>T (p.Cys90Phe)
NM_002230.4(JUP):c.272C>T (p.Pro91Leu) rs1567819889
NM_002230.4(JUP):c.275G>A (p.Gly92Asp) rs782737074
NM_002230.4(JUP):c.278T>G (p.Val93Gly) rs1916292032
NM_002230.4(JUP):c.289G>C (p.Asp97His) rs2143696352
NM_002230.4(JUP):c.292A>G (p.Ser98Gly)
NM_002230.4(JUP):c.293G>A (p.Ser98Asn) rs1555605891
NM_002230.4(JUP):c.298C>T (p.Leu100Phe) rs1555605883
NM_002230.4(JUP):c.308C>G (p.Ala103Gly) rs2143695852
NM_002230.4(JUP):c.315G>T (p.Gln105His)
NM_002230.4(JUP):c.328G>A (p.Ala110Thr) rs1916275770
NM_002230.4(JUP):c.35A>G (p.Lys12Arg)
NM_002230.4(JUP):c.365T>C (p.Leu122Pro) rs2143694308
NM_002230.4(JUP):c.379A>G (p.Ile127Val) rs1205967739
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del) rs781818082
NM_002230.4(JUP):c.401A>T (p.Gln134Leu)
NM_002230.4(JUP):c.403G>C (p.Asp135His) rs1555605721
NM_002230.4(JUP):c.406G>C (p.Asp136His) rs782392706
NM_002230.4(JUP):c.406G>T (p.Asp136Tyr) rs782392706
NM_002230.4(JUP):c.450_451delinsCA (p.Leu151Ile) rs2143691917
NM_002230.4(JUP):c.455A>G (p.Asn152Ser) rs1555605656
NM_002230.4(JUP):c.457G>A (p.Asp153Asn)
NM_002230.4(JUP):c.468+18C>G
NM_002230.4(JUP):c.468+4T>C rs782412433
NM_002230.4(JUP):c.468G>A (p.Pro156=) rs886037753
NM_002230.4(JUP):c.484G>A (p.Ala162Thr)
NM_002230.4(JUP):c.484G>T (p.Ala162Ser) rs1555605437
NM_002230.4(JUP):c.487G>A (p.Ala163Thr) rs782239920
NM_002230.4(JUP):c.49C>A (p.Gln17Lys)
NM_002230.4(JUP):c.500A>T (p.Asn167Ile) rs2143684902
NM_002230.4(JUP):c.505C>G (p.Leu169Val) rs1916178629
NM_002230.4(JUP):c.511AAG[1] (p.Lys172del) rs2143684447
NM_002230.4(JUP):c.515A>G (p.Lys172Arg) rs2143684482
NM_002230.4(JUP):c.527G>T (p.Arg176Leu)
NM_002230.4(JUP):c.536T>A (p.Leu179Gln)
NM_002230.4(JUP):c.542G>T (p.Gly181Val) rs1555605325
NM_002230.4(JUP):c.542_556dup (p.Gly181_Leu185dup) rs1555605296
NM_002230.4(JUP):c.54G>C (p.Gln18His)
NM_002230.4(JUP):c.559G>A (p.Ala187Thr)
NM_002230.4(JUP):c.55A>G (p.Thr19Ala)
NM_002230.4(JUP):c.563C>G (p.Ala188Gly)
NM_002230.4(JUP):c.565G>C (p.Val189Leu)
NM_002230.4(JUP):c.568G>C (p.Val190Leu) rs370143312
NM_002230.4(JUP):c.568G>T (p.Val190Leu) rs370143312
NM_002230.4(JUP):c.579G>A (p.Met193Ile) rs1916162051
NM_002230.4(JUP):c.593A>C (p.Asp198Ala) rs1916158675
NM_002230.4(JUP):c.599A>C (p.Asp200Ala)
NM_002230.4(JUP):c.599A>G (p.Asp200Gly)
NM_002230.4(JUP):c.602C>T (p.Thr201Ile) rs1916155693
NM_002230.4(JUP):c.605C>T (p.Ala202Val) rs782337928
NM_002230.4(JUP):c.622A>G (p.Ile208Val)
NM_002230.4(JUP):c.626T>A (p.Leu209Gln)
NM_002230.4(JUP):c.631A>C (p.Asn211His)
NM_002230.4(JUP):c.631_633del (p.Asn211del) rs1916151526
NM_002230.4(JUP):c.634C>G (p.Leu212Val)
NM_002230.4(JUP):c.643C>T (p.His215Tyr)
NM_002230.4(JUP):c.650A>G (p.Glu217Gly) rs2143680736
NM_002230.4(JUP):c.652G>A (p.Gly218Arg) rs1597823588
NM_002230.4(JUP):c.652G>C (p.Gly218Arg) rs1597823588
NM_002230.4(JUP):c.664A>G (p.Ile222Val)
NM_002230.4(JUP):c.67G>A (p.Asp23Asn)
NM_002230.4(JUP):c.692T>C (p.Leu231Pro) rs782109462
NM_002230.4(JUP):c.700A>G (p.Met234Val)
NM_002230.4(JUP):c.722C>T (p.Ser241Leu)
NM_002230.4(JUP):c.731T>C (p.Phe244Ser) rs1915926866
NM_002230.4(JUP):c.743C>A (p.Thr248Asn)
NM_002230.4(JUP):c.745A>C (p.Thr249Pro) rs2143652715
NM_002230.4(JUP):c.751C>T (p.His251Tyr)
NM_002230.4(JUP):c.754A>G (p.Asn252Asp) rs1915923358
NM_002230.4(JUP):c.766T>C (p.Tyr256His) rs1915921460
NM_002230.4(JUP):c.76A>C (p.Ile26Leu)
NM_002230.4(JUP):c.772G>C (p.Glu258Gln) rs1915920461
NM_002230.4(JUP):c.790G>A (p.Val264Met)
NM_002230.4(JUP):c.796C>G (p.Leu266Val) rs2143651347
NM_002230.4(JUP):c.805G>A (p.Gly269Arg) rs1915915013
NM_002230.4(JUP):c.805G>C (p.Gly269Arg)
NM_002230.4(JUP):c.817A>T (p.Met273Leu) rs2143650846
NM_002230.4(JUP):c.820G>A (p.Val274Met) rs1555604537
NM_002230.4(JUP):c.839A>G (p.Asn280Ser)
NM_002230.4(JUP):c.83C>T (p.Ser28Leu) rs782713414
NM_002230.4(JUP):c.856G>A (p.Ala286Thr) rs1915907385
NM_002230.4(JUP):c.859A>G (p.Ile287Val) rs1567815934
NM_002230.4(JUP):c.865_866delinsCT (p.Thr289Leu) rs1915905294
NM_002230.4(JUP):c.871T>C (p.Cys291Arg) rs2143649566
NM_002230.4(JUP):c.872G>A (p.Cys291Tyr) rs1915903369
NM_002230.4(JUP):c.874C>G (p.Leu292Val) rs1915903019
NM_002230.4(JUP):c.875T>C (p.Leu292Pro)
NM_002230.4(JUP):c.886G>T (p.Ala296Ser)
NM_002230.4(JUP):c.909+6C>A
NM_002230.4(JUP):c.926A>T (p.Asn309Ile) rs140606359
NM_002230.4(JUP):c.931G>A (p.Gly311Arg) rs1915488679
NM_002230.4(JUP):c.941C>G (p.Ala314Gly) rs201214805
NM_002230.4(JUP):c.947T>G (p.Val316Gly) rs1915485566
NM_002230.4(JUP):c.952A>G (p.Ile318Val)
NM_002230.4(JUP):c.958C>A (p.Arg320Ser)
NM_002230.4(JUP):c.959G>A (p.Arg320His) rs781965392
NM_002230.4(JUP):c.959G>T (p.Arg320Leu)
NM_002230.4(JUP):c.970T>A (p.Tyr324Asn)
NM_002230.4(JUP):c.970T>C (p.Tyr324His)
NM_002230.4(JUP):c.98G>T (p.Cys33Phe)
NM_002230.4(JUP):c.995G>A (p.Ser332Asn) rs1915476254

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.