ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.-8-261G>A rs74957385 0.02248
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.*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.*1027G>C rs147905567 0.00640
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.209-330A>G rs117820876 0.00130
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.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.1910G>A (p.Arg637His) rs142095597 0.00025
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_002230.4(JUP):c.258G>A (p.Arg86=) rs147159111 0.00020
NM_002230.4(JUP):c.1941C>T (p.Ala647=) rs368865601 0.00019
NM_002230.4(JUP):c.426C>T (p.Arg142=) rs142599474 0.00018
NM_002230.4(JUP):c.1296C>T (p.Asn432=) rs544224850 0.00017
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_002230.4(JUP):c.2086+13C>T rs199935213 0.00015
NM_002230.4(JUP):c.801C>T (p.Ala267=) rs138397457 0.00014
NM_002230.4(JUP):c.84G>A (p.Ser28=) rs144137028 0.00014
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.926A>G (p.Asn309Ser) rs140606359 0.00010
NM_002230.4(JUP):c.*312G>A rs552155645 0.00009
NM_002230.4(JUP):c.1055-14del rs140002183 0.00006
NM_002230.4(JUP):c.1713C>G (p.Ala571=) rs138446862 0.00006
NM_002230.4(JUP):c.561C>T (p.Ala187=) rs139552714 0.00006
NM_002230.4(JUP):c.1455C>T (p.Ile485=) rs368692517 0.00005
NM_002230.4(JUP):c.1371C>T (p.Cys457=) rs531692563 0.00004
NM_002230.4(JUP):c.162G>C (p.Thr54=) rs377681053 0.00004
NM_002230.4(JUP):c.1902G>T (p.Leu634=) rs145808264 0.00004
NM_002230.4(JUP):c.1932C>T (p.Tyr644=) rs201704572 0.00004
NM_002230.4(JUP):c.1945C>T (p.Leu649=) rs149148171 0.00004
NM_002230.4(JUP):c.945C>T (p.Leu315=) rs146804895 0.00004
NM_002230.4(JUP):c.1653+18G>A rs1057520950 0.00003
NM_002230.4(JUP):c.1692C>T (p.Thr564=) rs781958880 0.00003
NM_002230.4(JUP):c.357G>A (p.Pro119=) rs782579395 0.00003
NM_002230.4(JUP):c.-4C>T rs782493861 0.00002
NM_002230.4(JUP):c.159C>T (p.Tyr53=) rs370760069 0.00002
NM_002230.4(JUP):c.1924+18A>C rs1057520892 0.00002
NM_002230.4(JUP):c.2087-18C>T rs776307936 0.00002
NM_002230.4(JUP):c.654G>A (p.Gly218=) rs112105828 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.1128G>A (p.Leu376=) rs781926392 0.00001
NM_002230.4(JUP):c.1165C>T (p.Leu389=) rs1057523570 0.00001
NM_002230.4(JUP):c.1347C>T (p.Asp449=) rs763261901 0.00001
NM_002230.4(JUP):c.1551G>A (p.Pro517=) rs988891105 0.00001
NM_002230.4(JUP):c.1762C>T (p.Leu588=) rs781900856 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.1854C>T (p.Ala618=) rs782176670 0.00001
NM_002230.4(JUP):c.1908C>T (p.Ser636=) rs782122765 0.00001
NM_002230.4(JUP):c.1920C>T (p.Gly640=) rs376699725 0.00001
NM_002230.4(JUP):c.1924+14G>T rs201959663 0.00001
NM_002230.4(JUP):c.2179G>A (p.Asp727Asn) rs1285789744 0.00001
NM_002230.4(JUP):c.469-12T>C rs782699765 0.00001
NM_002230.4(JUP):c.469-16del rs782421393 0.00001
NM_002230.4(JUP):c.624C>T (p.Ile208=) rs566435665 0.00001
NM_002230.4(JUP):c.750G>A (p.Leu250=) rs148381639 0.00001
NM_002230.4(JUP):c.942C>T (p.Ala314=) rs782573436 0.00001
NM_002230.4(JUP):c.990C>T (p.Thr330=) rs1057521340 0.00001
NM_002230.4(JUP):c.*14A>C rs1057522449
NM_002230.4(JUP):c.-8-8G>T rs1057521241
NM_002230.4(JUP):c.1266C>T (p.Asn422=) rs1057523741
NM_002230.4(JUP):c.1498-234C>A rs148670383
NM_002230.4(JUP):c.1509C>T (p.Gly503=) rs782445315
NM_002230.4(JUP):c.1773+211dup rs150430167
NM_002230.4(JUP):c.1824G>T (p.Leu608=) rs376043057
NM_002230.4(JUP):c.2139G>A (p.Pro713=) rs782165431
NM_002230.4(JUP):c.708-6C>T rs782704213
NM_002230.4(JUP):c.846C>T (p.Pro282=) rs782262002
NM_002230.4(JUP):c.909+172dup rs373020891

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