ClinVar Miner

List of variants in gene JUP studied for not provided

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Gene type:
ClinVar version:
Total variants: 274
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.909+17T>C rs12942034 0.81403
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.909+49T>C rs77529236 0.05038
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.-8-261G>A rs74957385 0.02248
NM_002230.4(JUP):c.2046+169T>C rs77588113 0.01928
NM_002230.4(JUP):c.-8-66C>T rs77327994 0.01744
NM_002230.4(JUP):c.*669C>T rs8074883 0.01622
NM_002230.4(JUP):c.1158+310G>A rs146254364 0.01594
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.*853C>T rs55919561 0.01530
NM_002230.4(JUP):c.*623G>A rs55634776 0.01451
NM_002230.4(JUP):c.208+191C>G rs76575314 0.01295
NM_002230.4(JUP):c.708-189G>C rs75855114 0.00983
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.*1027G>C rs147905567 0.00640
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.1773+219A>C rs73301969 0.00485
NM_002230.4(JUP):c.1498-165G>C rs115582486 0.00349
NM_002230.4(JUP):c.1925-38C>T rs147482423 0.00320
NM_002230.4(JUP):c.-8-178C>A rs118053250 0.00310
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556 0.00259
NM_002230.4(JUP):c.1159-13C>A rs201627219 0.00258
NM_002230.4(JUP):c.*21C>A rs41275669 0.00146
NM_002230.4(JUP):c.209-330A>G rs117820876 0.00130
NM_002230.4(JUP):c.567C>T (p.Val189=) rs35297577 0.00090
NM_002230.4(JUP):c.2059A>G (p.Ile687Val) rs138366708 0.00074
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.459C>T (p.Asp153=) rs376289528 0.00029
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262 0.00026
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.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser) rs376051686 0.00021
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.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_002230.4(JUP):c.527G>A (p.Arg176Gln) rs144171604 0.00016
NM_002230.4(JUP):c.2086+13C>T rs199935213 0.00015
NM_002230.4(JUP):c.708-4C>G rs201313464 0.00014
NM_002230.4(JUP):c.801C>T (p.Ala267=) rs138397457 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.1159-20G>A rs782463183 0.00011
NM_002230.4(JUP):c.1989C>T (p.Arg663=) rs145175985 0.00011
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.707+20G>A rs782523305 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.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.1982G>A (p.Arg661Gln) rs555499592 0.00008
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.1774-6C>T rs375016135 0.00007
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu) rs782622653 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.958C>T (p.Arg320Cys) rs200740462 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.561C>T (p.Ala187=) rs139552714 0.00006
NM_002230.4(JUP):c.568G>A (p.Val190Met) rs370143312 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.1039G>A (p.Ala347Thr) rs782301706 0.00005
NM_002230.4(JUP):c.1455C>T (p.Ile485=) rs368692517 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.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.1486C>A (p.Pro496Thr) rs1220042864 0.00004
NM_002230.4(JUP):c.1550C>T (p.Pro517Leu) rs781988240 0.00004
NM_002230.4(JUP):c.162G>C (p.Thr54=) rs377681053 0.00004
NM_002230.4(JUP):c.1880C>T (p.Ser627Leu) rs781883243 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.1945C>T (p.Leu649=) rs149148171 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.746C>T (p.Thr249Met) rs377612199 0.00004
NM_002230.4(JUP):c.945C>T (p.Leu315=) rs146804895 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.1379G>A (p.Arg460His) rs397517296 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.490A>G (p.Met164Val) rs782573703 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.1324A>T (p.Ile442Phe) rs142213474 0.00002
NM_002230.4(JUP):c.1354A>T (p.Thr452Ser) rs794729045 0.00002
NM_002230.4(JUP):c.1490T>G (p.Leu497Arg) rs1327324458 0.00002
NM_002230.4(JUP):c.159C>T (p.Tyr53=) rs370760069 0.00002
NM_002230.4(JUP):c.1618C>T (p.Arg540Cys) rs782455234 0.00002
NM_002230.4(JUP):c.1784C>T (p.Ser595Leu) rs782130740 0.00002
NM_002230.4(JUP):c.1804C>T (p.Arg602Cys) rs199511559 0.00002
NM_002230.4(JUP):c.195G>T (p.Val65=) rs1454514424 0.00002
NM_002230.4(JUP):c.2087-18C>T rs776307936 0.00002
NM_002230.4(JUP):c.2208G>A (p.Pro736=) rs371508357 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.351C>T (p.Ala117=) rs397517300 0.00002
NM_002230.4(JUP):c.436G>A (p.Glu146Lys) rs146581757 0.00002
NM_002230.4(JUP):c.521C>T (p.Ala174Val) rs146786437 0.00002
NM_002230.4(JUP):c.572G>A (p.Arg191His) rs143502391 0.00002
NM_002230.4(JUP):c.654G>A (p.Gly218=) rs112105828 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.902A>G (p.Glu301Gly) rs782058451 0.00002
NM_002230.4(JUP):c.951G>C (p.Gln317His) rs782215140 0.00002
NM_002230.4(JUP):c.99C>T (p.Cys33=) rs139172952 0.00002
NM_002230.4(JUP):c.1017C>T (p.Ser339=) rs782357007 0.00001
NM_002230.4(JUP):c.1069C>G (p.Leu357Val) rs1455055075 0.00001
NM_002230.4(JUP):c.1100G>T (p.Arg367Leu) rs782067441 0.00001
NM_002230.4(JUP):c.1128G>A (p.Leu376=) rs781926392 0.00001
NM_002230.4(JUP):c.1300G>A (p.Gly434Ser) rs1555602250 0.00001
NM_002230.4(JUP):c.1355C>T (p.Thr452Met) rs781888888 0.00001
NM_002230.4(JUP):c.1394G>A (p.Arg465His) rs369486398 0.00001
NM_002230.4(JUP):c.1506C>T (p.Ile502=) rs372963143 0.00001
NM_002230.4(JUP):c.1520A>G (p.Asn507Ser) rs1555599849 0.00001
NM_002230.4(JUP):c.1551G>A (p.Pro517=) rs988891105 0.00001
NM_002230.4(JUP):c.1606C>G (p.Gln536Glu) rs782683108 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.1677T>C (p.Ile559=) rs1914251431 0.00001
NM_002230.4(JUP):c.1692C>T (p.Thr564=) rs781958880 0.00001
NM_002230.4(JUP):c.1696G>A (p.Ala566Thr) rs727504695 0.00001
NM_002230.4(JUP):c.1730G>A (p.Arg577His) rs373434456 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.1815C>T (p.Ala605=) rs543862977 0.00001
NM_002230.4(JUP):c.1851G>A (p.Ala617=) rs1031612674 0.00001
NM_002230.4(JUP):c.1876G>A (p.Ala626Thr) rs782547688 0.00001
NM_002230.4(JUP):c.1885C>T (p.Pro629Ser) rs1188860546 0.00001
NM_002230.4(JUP):c.1925-19T>G rs545000698 0.00001
NM_002230.4(JUP):c.2083G>A (p.Asp695Asn) rs1424685853 0.00001
NM_002230.4(JUP):c.2084A>G (p.Asp695Gly) rs781859850 0.00001
NM_002230.4(JUP):c.2121C>T (p.Ser707=) rs1477036549 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.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.335A>G (p.Asn112Ser) rs372364561 0.00001
NM_002230.4(JUP):c.343C>T (p.Arg115Ter) rs782203227 0.00001
NM_002230.4(JUP):c.374C>T (p.Ser125Leu) rs782527770 0.00001
NM_002230.4(JUP):c.469-12T>C rs782699765 0.00001
NM_002230.4(JUP):c.525G>A (p.Ser175=) rs782794110 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.71C>T (p.Ser24Leu) rs782460555 0.00001
NM_002230.4(JUP):c.788C>T (p.Ala263Val) rs1287470595 0.00001
NM_002230.4(JUP):c.793C>T (p.Arg265Cys) rs782761197 0.00001
NM_002230.4(JUP):c.802G>A (p.Asp268Asn) rs794729039 0.00001
NM_002230.4(JUP):c.849G>T (p.Lys283Asn) rs794729054 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
NC_000017.11:g.41754526C>A rs8071562
NM_002230.4(JUP):c.-3_6delinsCCA (p.Met1_Glu2del)
NM_002230.4(JUP):c.1028G>A (p.Ser343Asn) rs1597808088
NM_002230.4(JUP):c.1097C>T (p.Pro366Leu)
NM_002230.4(JUP):c.1113C>A (p.Asn371Lys) rs782009178
NM_002230.4(JUP):c.1130_1131del (p.Arg377fs) rs2143592085
NM_002230.4(JUP):c.113GCA[1] (p.Ser39del) rs113994176
NM_002230.4(JUP):c.1159-13C>T rs201627219
NM_002230.4(JUP):c.1217A>G (p.Asn406Ser)
NM_002230.4(JUP):c.122G>A (p.Gly41Asp)
NM_002230.4(JUP):c.1234A>G (p.Thr412Ala) rs2143564484
NM_002230.4(JUP):c.141G>C (p.Glu47Asp) rs2143735148
NM_002230.4(JUP):c.1457T>G (p.Val486Gly) rs2143558868
NM_002230.4(JUP):c.1498-220_1498-219dup rs11404112
NM_002230.4(JUP):c.1498-220dup rs11404112
NM_002230.4(JUP):c.1498-234C>A rs148670383
NM_002230.4(JUP):c.1636A>C (p.Thr546Pro)
NM_002230.4(JUP):c.1705A>T (p.Ile569Phe) rs370101446
NM_002230.4(JUP):c.1773+211dup rs150430167
NM_002230.4(JUP):c.1825T>C (p.Cys609Arg)
NM_002230.4(JUP):c.1913A>C (p.Asn638Thr) rs561484928
NM_002230.4(JUP):c.1919G>A (p.Gly640Asp)
NM_002230.4(JUP):c.1925-17C>T rs1555598762
NM_002230.4(JUP):c.1976A>G (p.Asp659Gly) rs782124059
NM_002230.4(JUP):c.1988G>A (p.Arg663His)
NM_002230.4(JUP):c.1993T>C (p.Ser665Pro) rs1597780746
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs) rs113994177
NM_002230.4(JUP):c.2044G>A (p.Ala682Thr) rs2143416364
NM_002230.4(JUP):c.2047-14C>T rs116666639
NM_002230.4(JUP):c.2053A>G (p.Ser685Gly) rs2143385240
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.2098A>G (p.Thr700Ala) rs1555597540
NM_002230.4(JUP):c.209G>C (p.Gly70Ala) rs794729030
NM_002230.4(JUP):c.2187C>T (p.Tyr729=)
NM_002230.4(JUP):c.230C>T (p.Ser77Phe)
NM_002230.4(JUP):c.248A>G (p.Lys83Arg)
NM_002230.4(JUP):c.262_263delinsAA (p.Ala88Asn) rs1916297521
NM_002230.4(JUP):c.312C>G (p.Thr104=) rs2143695686
NM_002230.4(JUP):c.365T>C (p.Leu122Pro) rs2143694308
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del) rs781818082
NM_002230.4(JUP):c.406G>C (p.Asp136His) rs782392706
NM_002230.4(JUP):c.511AAG[1] (p.Lys172del) rs2143684447
NM_002230.4(JUP):c.55A>G (p.Thr19Ala)
NM_002230.4(JUP):c.572G>C (p.Arg191Pro) rs143502391
NM_002230.4(JUP):c.595C>G (p.Leu199Val)
NM_002230.4(JUP):c.633C>A (p.Asn211Lys) rs372145644
NM_002230.4(JUP):c.640C>T (p.His214Tyr) rs794729037
NM_002230.4(JUP):c.704T>A (p.Leu235His) rs794729038
NM_002230.4(JUP):c.708-6C>T rs782704213
NM_002230.4(JUP):c.731T>C (p.Phe244Ser) rs1915926866
NM_002230.4(JUP):c.773A>G (p.Glu258Gly) rs794729052
NM_002230.4(JUP):c.809T>G (p.Leu270Arg) rs794729040
NM_002230.4(JUP):c.813A>G (p.Gln271=) rs1597817544
NM_002230.4(JUP):c.828G>C (p.Leu276=)
NM_002230.4(JUP):c.87C>A (p.Gly29=) rs199530395
NM_002230.4(JUP):c.909+172dup rs373020891
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002230.4(JUP):c.940G>A (p.Ala314Thr) rs2143600211
NM_002230.4(JUP):c.941C>G (p.Ala314Gly) rs201214805
NM_002230.4(JUP):c.959G>A (p.Arg320His) rs781965392

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