ClinVar Miner

List of variants in gene JUP reported by Ambry Genetics

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Gene type:
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Total variants: 66
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HGVS dbSNP
NM_002230.4(JUP):c.*2C>T rs112879398
NM_002230.4(JUP):c.1104G>C (p.Leu368=) rs1555603199
NM_002230.4(JUP):c.1218C>T (p.Asn406=) rs782565128
NM_002230.4(JUP):c.1224C>T (p.Leu408=) rs2230408
NM_002230.4(JUP):c.1236G>A (p.Thr412=) rs376391674
NM_002230.4(JUP):c.1281G>A (p.Thr427=) rs373544304
NM_002230.4(JUP):c.1296C>T (p.Asn432=) rs544224850
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474
NM_002230.4(JUP):c.1333G>C (p.Ala445Pro) rs782465430
NM_002230.4(JUP):c.1372G>A (p.Ala458Thr) rs139559495
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522
NM_002230.4(JUP):c.1455C>T (p.Ile485=) rs368692517
NM_002230.4(JUP):c.1513A>G (p.Ile505Val) rs955019712
NM_002230.4(JUP):c.1520A>G (p.Asn507Ser) rs1555599849
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974
NM_002230.4(JUP):c.1565C>T (p.Ala522Val) rs1060502679
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys) rs782309611
NM_002230.4(JUP):c.1667T>C (p.Met556Thr) rs781884735
NM_002230.4(JUP):c.1710C>T (p.Leu570=) rs375801194
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys) rs782354654
NM_002230.4(JUP):c.1745G>A (p.Arg582Gln) rs781828085
NM_002230.4(JUP):c.1814C>T (p.Ala605Val) rs954113545
NM_002230.4(JUP):c.1824G>A (p.Leu608=) rs376043057
NM_002230.4(JUP):c.1902G>T (p.Leu634=) rs145808264
NM_002230.4(JUP):c.1910G>A (p.Arg637His) rs142095597
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_002230.4(JUP):c.1959C>T (p.Ser653=) rs375451560
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu) rs782622653
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662
NM_002230.4(JUP):c.2046T>A (p.Ala682=) rs782632671
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821
NM_002230.4(JUP):c.2105G>A (p.Arg702His) rs200690479
NM_002230.4(JUP):c.213T>C (p.Asp71=) rs7405731
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561
NM_002230.4(JUP):c.2179G>A (p.Asp727Asn) rs1285789744
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348
NM_002230.4(JUP):c.2208G>T (p.Pro736=) rs371508357
NM_002230.4(JUP):c.274G>T (p.Gly92Cys) rs781875765
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464
NM_002230.4(JUP):c.329C>T (p.Ala110Val) rs782770278
NM_002230.4(JUP):c.357G>A (p.Pro119=) rs782579395
NM_002230.4(JUP):c.389_391TCA[1] (p.Ile131del) rs781818082
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425
NM_002230.4(JUP):c.435C>T (p.Pro145=) rs781786854
NM_002230.4(JUP):c.436G>T (p.Glu146Ter) rs146581757
NM_002230.4(JUP):c.447A>G (p.Lys149=) rs199853316
NM_002230.4(JUP):c.467C>T (p.Pro156Leu) rs782052422
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262
NM_002230.4(JUP):c.510G>A (p.Ser170=) rs140539043
NM_002230.4(JUP):c.521C>T (p.Ala174Val) rs146786437
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007
NM_002230.4(JUP):c.527G>A (p.Arg176Gln) rs144171604
NM_002230.4(JUP):c.530G>A (p.Arg177Gln) rs371481933
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498
NM_002230.4(JUP):c.567C>T (p.Val189=) rs35297577
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629
NM_002230.4(JUP):c.572G>A (p.Arg191His) rs143502391
NM_002230.4(JUP):c.708-4C>G rs201313464
NM_002230.4(JUP):c.762C>T (p.Leu254=) rs781805854
NM_002230.4(JUP):c.807G>T (p.Gly269=) rs781992518
NM_002230.4(JUP):c.820G>A (p.Val274Met) rs1555604537
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407
NM_002230.4(JUP):c.892G>A (p.Gly298Ser) rs199597864
NM_002230.4(JUP):c.936C>G (p.Pro312=) rs375094290

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