ClinVar Miner

List of variants in gene JUP reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 25
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HGVS dbSNP
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.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.1377G>T (p.Leu459=) rs147370522
NM_002230.4(JUP):c.1455C>T (p.Ile485=) rs368692517
NM_002230.4(JUP):c.1710C>T (p.Leu570=) rs375801194
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.1959C>T (p.Ser653=) rs375451560
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.2178C>T (p.Ile726=) rs141295561
NM_002230.4(JUP):c.2208G>T (p.Pro736=) rs371508357
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464
NM_002230.4(JUP):c.357G>A (p.Pro119=) rs782579395
NM_002230.4(JUP):c.435C>T (p.Pro145=) rs781786854
NM_002230.4(JUP):c.447A>G (p.Lys149=) rs199853316
NM_002230.4(JUP):c.510G>A (p.Ser170=) rs140539043
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.762C>T (p.Leu254=) rs781805854
NM_002230.4(JUP):c.807G>T (p.Gly269=) rs781992518
NM_002230.4(JUP):c.936C>G (p.Pro312=) rs375094290

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