ClinVar Miner

List of variants in gene JUP reported as likely benign

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Gene type:
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Total variants: 123
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HGVS dbSNP
NM_002230.2(JUP):c.*14A>C rs1057522449
NM_002230.2(JUP):c.*225T>C rs4627408
NM_002230.2(JUP):c.*286C>T rs73983656
NM_002230.2(JUP):c.*312G>A rs552155645
NM_002230.2(JUP):c.*669C>T rs8074883
NM_002230.2(JUP):c.*709G>C rs56339743
NM_002230.2(JUP):c.-4C>T rs782493861
NM_002230.2(JUP):c.-8-8G>T rs1057521241
NM_002230.2(JUP):c.-88A>G rs4796702
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.1172G>A (p.Ser391Asn) rs199826380
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.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.1455C>T (p.Ile485=) rs368692517
NM_002230.2(JUP):c.1563A>G (p.Ala521=) rs149926974
NM_002230.2(JUP):c.1566G>A (p.Ala522=) rs547437428
NM_002230.2(JUP):c.159C>T (p.Tyr53=) rs370760069
NM_002230.2(JUP):c.1653+18G>A rs1057520950
NM_002230.2(JUP):c.1710C>T (p.Leu570=) rs375801194
NM_002230.2(JUP):c.1806C>T (p.Arg602=) rs781934535
NM_002230.2(JUP):c.1807G>T (p.Val603Leu) rs200327969
NM_002230.2(JUP):c.1824G>A (p.Leu608=) rs376043057
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.1857C>T (p.Asp619=) rs782623854
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.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.2046T>A (p.Ala682=) rs782632671
NM_002230.2(JUP):c.2059A>G (p.Ile687Val) rs138366708
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.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.258G>A (p.Arg86=) rs147159111
NM_002230.2(JUP):c.297G>A (p.Ser99=) rs200976464
NM_002230.2(JUP):c.456C>T (p.Asn152=) rs781907298
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.546G>A (p.Ser182=) rs202038498
NM_002230.2(JUP):c.560C>T (p.Ala187Val) rs782370709
NM_002230.2(JUP):c.567C>T (p.Val189=) rs35297577
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.804C>T (p.Asp268=) rs782667629
NM_002230.2(JUP):c.909+6C>T rs193922705
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.990C>T (p.Thr330=) rs1057521340
NM_002230.2(JUP):c.99C>T (p.Cys33=) rs139172952
NM_002230.3(JUP):c.1104G>C (p.Leu368=) rs1555603199
NM_002230.3(JUP):c.1159-13C>T rs201627219
NM_002230.3(JUP):c.1159-20G>A rs782463183
NM_002230.3(JUP):c.1236G>A (p.Thr412=) rs376391674
NM_002230.3(JUP):c.1290A>G (p.Thr430=) rs897549158
NM_002230.3(JUP):c.1380C>T (p.Arg460=) rs782212737
NM_002230.3(JUP):c.147C>T (p.Cys49=) rs200001999
NM_002230.3(JUP):c.1497+14G>A rs371853838
NM_002230.3(JUP):c.1507G>A (p.Gly503Ser) rs376051686
NM_002230.3(JUP):c.1509C>T (p.Gly503=) rs782445315
NM_002230.3(JUP):c.1713C>G (p.Ala571=) rs138446862
NM_002230.3(JUP):c.1762C>T (p.Leu588=) rs781900856
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.2086+14G>A rs727504485
NM_002230.3(JUP):c.209-4C>G rs1555605999
NM_002230.3(JUP):c.2208G>T (p.Pro736=) rs371508357
NM_002230.3(JUP):c.351C>T (p.Ala117=) rs397517300
NM_002230.3(JUP):c.357G>A (p.Pro119=) rs782579395
NM_002230.3(JUP):c.435C>T (p.Pro145=) rs781786854
NM_002230.3(JUP):c.447A>G (p.Lys149=) rs199853316
NM_002230.3(JUP):c.561C>T (p.Ala187=) rs139552714
NM_002230.3(JUP):c.654G>A (p.Gly218=) rs112105828
NM_002230.3(JUP):c.66C>T (p.Tyr22=) rs782575179
NM_002230.3(JUP):c.694G>A (p.Val232Ile) rs137989964
NM_002230.3(JUP):c.750G>A (p.Leu250=) rs148381639
NM_002230.3(JUP):c.807G>T (p.Gly269=) rs781992518
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.87C>T (p.Gly29=) rs199530395
NM_002230.3(JUP):c.891C>T (p.Tyr297=) rs397517302
NM_002230.3(JUP):c.936C>G (p.Pro312=) rs375094290
NM_002230.3(JUP):c.972T>C (p.Tyr324=) rs781889333
NM_021991.3(JUP):c.1377G>T (p.Leu459=) rs147370522
NM_021991.3(JUP):c.1653+10C>A rs73983658
NM_021991.3(JUP):c.1774-13C>T rs116772523
NM_021991.3(JUP):c.192G>A (p.Gly64=) rs141237794
NM_021991.3(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_021991.3(JUP):c.2047-14C>G rs116666639
NM_021991.3(JUP):c.405C>T (p.Asp135=) rs17850807
NM_021991.3(JUP):c.425G>A (p.Arg142His) rs41283425
NM_021991.3(JUP):c.867C>T (p.Thr289=) rs2230407

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