ClinVar Miner

List of variants in gene JUP reported as benign

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Gene type:
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Total variants: 56
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HGVS dbSNP
NC_000017.11:g.41757393T>C
NC_000017.11:g.41757818G>T
NM_002230.3(JUP):c.-9+19_-9+20delGC rs67537421
NM_002230.4(JUP):c.*21C>A rs41275669
NM_002230.4(JUP):c.*2C>T rs112879398
NM_002230.4(JUP):c.*3G>A rs201552065
NM_002230.4(JUP):c.-8-224C>T
NM_002230.4(JUP):c.-9+4C>G rs550558202
NM_002230.4(JUP):c.1158+344A>G
NM_002230.4(JUP):c.1159-13C>A rs201627219
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380
NM_002230.4(JUP):c.1224C>T (p.Leu408=) rs2230408
NM_002230.4(JUP):c.1281G>A (p.Thr427=) rs373544304
NM_002230.4(JUP):c.1365C>T (p.Ala455=) rs77375949
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974
NM_002230.4(JUP):c.1653+10C>A rs73983658
NM_002230.4(JUP):c.1710C>T (p.Leu570=) rs375801194
NM_002230.4(JUP):c.1774-13C>T rs116772523
NM_002230.4(JUP):c.1774-34C>A rs8067890
NM_002230.4(JUP):c.1774-6C>T rs375016135
NM_002230.4(JUP):c.1807G>T (p.Val603Leu) rs200327969
NM_002230.4(JUP):c.1815C>T (p.Ala605=) rs543862977
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662
NM_002230.4(JUP):c.2046+169T>C
NM_002230.4(JUP):c.2046+180C>T
NM_002230.4(JUP):c.2046+190T>C
NM_002230.4(JUP):c.2046+22A>G rs7216034
NM_002230.4(JUP):c.2047-115T>C
NM_002230.4(JUP):c.2047-14C>G rs116666639
NM_002230.4(JUP):c.2059A>G (p.Ile687Val) rs138366708
NM_002230.4(JUP):c.2087-116dup
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821
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.297G>A (p.Ser99=) rs200976464
NM_002230.4(JUP):c.375G>A (p.Ser125=) rs111344340
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.426C>T (p.Arg142=) rs142599474
NM_002230.4(JUP):c.469-48C>T rs75715269
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.527G>A (p.Arg176Gln) rs144171604
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.633C>T (p.Asn211=) rs372145644
NM_002230.4(JUP):c.707+290C>T
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407
NM_002230.4(JUP):c.909+17T>C rs12942034
NM_002230.4(JUP):c.909+49T>C rs77529236
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002230.4(JUP):c.910-161C>T

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