ClinVar Miner

List of variants in gene JUP studied for not specified

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Gene type:
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Total variants: 143
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HGVS dbSNP
NM_002230.2(JUP):c.*14A>C rs1057522449
NM_002230.2(JUP):c.*21C>A rs41275669
NM_002230.2(JUP):c.*2C>T rs112879398
NM_002230.2(JUP):c.*312G>A rs552155645
NM_002230.2(JUP):c.*3G>A rs201552065
NM_002230.2(JUP):c.-4C>T rs782493861
NM_002230.2(JUP):c.-8-8G>T rs1057521241
NM_002230.2(JUP):c.-9+4C>G rs550558202
NM_002230.2(JUP):c.-9+9T>C rs1057521919
NM_002230.2(JUP):c.1017C>T (p.Ser339=) rs782357007
NM_002230.2(JUP):c.1035G>C (p.Lys345Asn) rs150194093
NM_002230.2(JUP):c.1054+7A>T rs371988639
NM_002230.2(JUP):c.1055-14delT rs140002183
NM_002230.2(JUP):c.1159-13C>A rs201627219
NM_002230.2(JUP):c.1165C>T (p.Leu389=) rs1057523570
NM_002230.2(JUP):c.1213G>A (p.Val405Ile) rs200019016
NM_002230.2(JUP):c.1218C>T (p.Asn406=) rs782565128
NM_002230.2(JUP):c.1224C>T (p.Leu408=) rs2230408
NM_002230.2(JUP):c.1266C>T (p.Asn422=) rs1057523741
NM_002230.2(JUP):c.1281G>A (p.Thr427=) rs373544304
NM_002230.2(JUP):c.1296C>T (p.Asn432=) rs544224850
NM_002230.2(JUP):c.1331G>A (p.Arg444His) rs369507567
NM_002230.2(JUP):c.1333G>C (p.Ala445Pro) rs782465430
NM_002230.2(JUP):c.1347C>T (p.Asp449=) rs763261901
NM_002230.2(JUP):c.1365C>T (p.Ala455=) rs77375949
NM_002230.2(JUP):c.1366G>A (p.Val456Ile) rs78437817
NM_002230.2(JUP):c.1371C>T (p.Cys457=) rs531692563
NM_002230.2(JUP):c.1379G>A (p.Arg460His) rs397517296
NM_002230.2(JUP):c.1563A>G (p.Ala521=) rs149926974
NM_002230.2(JUP):c.1582G>A (p.Val528Ile) rs368271628
NM_002230.2(JUP):c.159C>T (p.Tyr53=) rs370760069
NM_002230.2(JUP):c.161C>T (p.Thr54Met) rs782529328
NM_002230.2(JUP):c.1653+18G>A rs1057520950
NM_002230.2(JUP):c.1696G>A (p.Ala566Thr) rs727504695
NM_002230.2(JUP):c.1710C>T (p.Leu570=) rs375801194
NM_002230.2(JUP):c.1753A>G (p.Thr585Ala) rs782653485
NM_002230.2(JUP):c.1774-6C>T rs375016135
NM_002230.2(JUP):c.1807G>T (p.Val603Leu) rs200327969
NM_002230.2(JUP):c.1824G>T (p.Leu608=) rs376043057
NM_002230.2(JUP):c.1851G>A (p.Ala617=) rs1031612674
NM_002230.2(JUP):c.1854C>T (p.Ala618=) rs782176670
NM_002230.2(JUP):c.1902G>T (p.Leu634=) rs145808264
NM_002230.2(JUP):c.1908C>T (p.Ser636=) rs782122765
NM_002230.2(JUP):c.1909C>T (p.Arg637Cys) rs531732438
NM_002230.2(JUP):c.1910G>A (p.Arg637His) rs142095597
NM_002230.2(JUP):c.1924+14G>T rs201959663
NM_002230.2(JUP):c.1924+18A>C rs1057520892
NM_002230.2(JUP):c.1932C>T (p.Tyr644=) rs201704572
NM_002230.2(JUP):c.1941C>T (p.Ala647=) rs368865601
NM_002230.2(JUP):c.1945C>T (p.Leu649=) rs149148171
NM_002230.2(JUP):c.1959C>T (p.Ser653=) rs375451560
NM_002230.2(JUP):c.1989C>T (p.Arg663=) rs145175985
NM_002230.2(JUP):c.2025T>C (p.His675=) rs140670556
NM_002230.2(JUP):c.2031G>A (p.Pro677=) rs188888662
NM_002230.2(JUP):c.2059A>G (p.Ile687Val) rs138366708
NM_002230.2(JUP):c.2069A>G (p.Asn690Ser) rs147628503
NM_002230.2(JUP):c.2086+13C>T rs199935213
NM_002230.2(JUP):c.2086+7G>C rs727504940
NM_002230.2(JUP):c.2089A>T (p.Met697Leu) rs1126821
NM_002230.2(JUP):c.2105G>A (p.Arg702His) rs200690479
NM_002230.2(JUP):c.2122G>A (p.Asp708Asn) rs781804177
NM_002230.2(JUP):c.2139G>A (p.Pro713=) rs782165431
NM_002230.2(JUP):c.213T>C (p.Asp71=) rs7405731
NM_002230.2(JUP):c.2178C>T (p.Ile726=) rs141295561
NM_002230.2(JUP):c.2207C>T (p.Pro736Leu) rs151178348
NM_002230.2(JUP):c.258G>A (p.Arg86=) rs147159111
NM_002230.2(JUP):c.297G>A (p.Ser99=) rs200976464
NM_002230.2(JUP):c.392_394delTCA (p.Ile131del) rs781818082
NM_002230.2(JUP):c.401A>G (p.Gln134Arg) rs1057518313
NM_002230.2(JUP):c.427G>A (p.Ala143Thr) rs375788626
NM_002230.2(JUP):c.459C>T (p.Asp153=) rs376289528
NM_002230.2(JUP):c.469-16delT rs782421393
NM_002230.2(JUP):c.486G>A (p.Ala162=) rs113317262
NM_002230.2(JUP):c.510G>A (p.Ser170=) rs140539043
NM_002230.2(JUP):c.530G>A (p.Arg177Gln) rs371481933
NM_002230.2(JUP):c.546G>A (p.Ser182=) rs202038498
NM_002230.2(JUP):c.567C>T (p.Val189=) rs35297577
NM_002230.2(JUP):c.56C>T (p.Thr19Ile) rs570878629
NM_002230.2(JUP):c.607C>T (p.Arg203Cys) rs147354282
NM_002230.2(JUP):c.624C>T (p.Ile208=) rs566435665
NM_002230.2(JUP):c.633C>T (p.Asn211=) rs372145644
NM_002230.2(JUP):c.708-4C>G rs201313464
NM_002230.2(JUP):c.708-6C>T rs782704213
NM_002230.2(JUP):c.762C>T (p.Leu254=) rs781805854
NM_002230.2(JUP):c.801C>T (p.Ala267=) rs138397457
NM_002230.2(JUP):c.902A>G (p.Glu301Gly) rs782058451
NM_002230.2(JUP):c.909+17T>C rs12942034
NM_002230.2(JUP):c.909+6C>T rs193922705
NM_002230.2(JUP):c.926A>G (p.Asn309Ser) rs140606359
NM_002230.2(JUP):c.942C>T (p.Ala314=) rs782573436
NM_002230.2(JUP):c.945C>T (p.Leu315=) rs146804895
NM_002230.2(JUP):c.989C>A (p.Thr330Asn) rs782145797
NM_002230.2(JUP):c.990C>T (p.Thr330=) rs1057521340
NM_002230.3(JUP):c.-42_-27del16 rs1284180333
NM_002230.3(JUP):c.-9+19_-9+20delGC rs67537421
NM_002230.3(JUP):c.1153A>C (p.Lys385Gln) rs727505135
NM_002230.3(JUP):c.1159-13C>T rs201627219
NM_002230.3(JUP):c.1159-20G>A rs782463183
NM_002230.3(JUP):c.1290A>G (p.Thr430=) rs897549158
NM_002230.3(JUP):c.1497+14G>A rs371853838
NM_002230.3(JUP):c.1509C>T (p.Gly503=) rs782445315
NM_002230.3(JUP):c.1711G>T (p.Ala571Ser) rs397517297
NM_002230.3(JUP):c.1713C>G (p.Ala571=) rs138446862
NM_002230.3(JUP):c.1715G>T (p.Arg572Leu) rs397517298
NM_002230.3(JUP):c.1762C>T (p.Leu588=) rs781900856
NM_002230.3(JUP):c.1849G>A (p.Ala617Thr) rs397517299
NM_002230.3(JUP):c.1914C>T (p.Asn638=) rs368772249
NM_002230.3(JUP):c.1920C>T (p.Gly640=) rs376699725
NM_002230.3(JUP):c.1933G>A (p.Ala645Thr) rs727504778
NM_002230.3(JUP):c.193G>T (p.Val65Leu) rs727503100
NM_002230.3(JUP):c.2086+14G>A rs727504485
NM_002230.3(JUP):c.351C>T (p.Ala117=) rs397517300
NM_002230.3(JUP):c.356C>T (p.Pro119Leu) rs376123010
NM_002230.3(JUP):c.357G>A (p.Pro119=) rs782579395
NM_002230.3(JUP):c.375G>A (p.Ser125=) rs111344340
NM_002230.3(JUP):c.561C>T (p.Ala187=) rs139552714
NM_002230.3(JUP):c.66C>T (p.Tyr22=) rs782575179
NM_002230.3(JUP):c.708-7C>T rs397517301
NM_002230.3(JUP):c.750G>A (p.Leu250=) rs148381639
NM_002230.3(JUP):c.846C>T (p.Pro282=) rs782262002
NM_002230.3(JUP):c.84G>A (p.Ser28=) rs144137028
NM_002230.3(JUP):c.891C>T (p.Tyr297=) rs397517302
NM_002230.3(JUP):c.998G>A (p.Arg333His) rs727503099
NM_021991.2(JUP):c.1774-34C>A rs8067890
NM_021991.2(JUP):c.2046+22A>G rs7216034
NM_021991.2(JUP):c.469-48C>T rs75715269
NM_021991.2(JUP):c.909+49T>C rs77529236
NM_021991.3(JUP):c.1128G>A (p.Leu376=)
NM_021991.3(JUP):c.1377G>T (p.Leu459=) rs147370522
NM_021991.3(JUP):c.1646C>A (p.Pro549His) rs1555599683
NM_021991.3(JUP):c.1653+10C>A rs73983658
NM_021991.3(JUP):c.1774-13C>T rs116772523
NM_021991.3(JUP):c.1774-8C>T
NM_021991.3(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_021991.3(JUP):c.1996G>A (p.Val666Met)
NM_021991.3(JUP):c.2047-14C>G rs116666639
NM_021991.3(JUP):c.405C>T (p.Asp135=) rs17850807
NM_021991.3(JUP):c.412G>A (p.Glu138Lys)
NM_021991.3(JUP):c.425G>A (p.Arg142His) rs41283425
NM_021991.3(JUP):c.527G>A (p.Arg176Gln) rs144171604
NM_021991.3(JUP):c.545C>T (p.Ser182Leu) rs145592971
NM_021991.3(JUP):c.777C>T (p.Gly259=) rs34890640
NM_021991.3(JUP):c.867C>T (p.Thr289=) rs2230407

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