ClinVar Miner

List of variants in gene JUP reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP
NM_002230.2(JUP):c.*14A>C rs1057522449
NM_002230.2(JUP):c.*312G>A rs552155645
NM_002230.2(JUP):c.-4C>T rs782493861
NM_002230.2(JUP):c.-8-8G>T rs1057521241
NM_002230.2(JUP):c.-9+9T>C rs1057521919
NM_002230.2(JUP):c.1017C>T (p.Ser339=) rs782357007
NM_002230.2(JUP):c.1054+7A>T rs371988639
NM_002230.2(JUP):c.1055-14delT rs140002183
NM_002230.2(JUP):c.1165C>T (p.Leu389=) rs1057523570
NM_002230.2(JUP):c.1266C>T (p.Asn422=) rs1057523741
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.1366G>A (p.Val456Ile) rs78437817
NM_002230.2(JUP):c.1371C>T (p.Cys457=) rs531692563
NM_002230.2(JUP):c.159C>T (p.Tyr53=) rs370760069
NM_002230.2(JUP):c.1653+18G>A rs1057520950
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.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.2059A>G (p.Ile687Val) rs138366708
NM_002230.2(JUP):c.2086+13C>T rs199935213
NM_002230.2(JUP):c.2139G>A (p.Pro713=) rs782165431
NM_002230.2(JUP):c.258G>A (p.Arg86=) rs147159111
NM_002230.2(JUP):c.459C>T (p.Asp153=) rs376289528
NM_002230.2(JUP):c.469-16delT rs782421393
NM_002230.2(JUP):c.546G>A (p.Ser182=) rs202038498
NM_002230.2(JUP):c.624C>T (p.Ile208=) rs566435665
NM_002230.2(JUP):c.708-6C>T rs782704213
NM_002230.2(JUP):c.801C>T (p.Ala267=) rs138397457
NM_002230.2(JUP):c.942C>T (p.Ala314=) rs782573436
NM_002230.2(JUP):c.990C>T (p.Thr330=) rs1057521340
NM_002230.3(JUP):c.1159-20G>A rs782463183
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.1920C>T (p.Gly640=) rs376699725
NM_002230.3(JUP):c.357G>A (p.Pro119=) rs782579395
NM_002230.3(JUP):c.561C>T (p.Ala187=) rs139552714
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

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