ClinVar Miner

List of variants in gene JUP reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.909+17T>C rs12942034 0.81403
NM_002230.4(JUP):c.213T>C (p.Asp71=) rs7405731 0.77675
NM_002230.4(JUP):c.2046+22A>G rs7216034 0.77249
NM_002230.4(JUP):c.1774-34C>A rs8067890 0.71145
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821 0.66611
NM_002230.4(JUP):c.909+49T>C rs77529236 0.05038
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_002230.4(JUP):c.469-48C>T rs75715269 0.03700
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807 0.03356
NM_002230.4(JUP):c.2047-14C>G rs116666639 0.00819
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640 0.00507
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.633C>T (p.Asn211=) rs372145644 0.00036
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_002230.4(JUP):c.1365C>T (p.Ala455=) rs77375949 0.00013
NM_002230.4(JUP):c.1959C>T (p.Ser653=) rs375451560 0.00012
NM_002230.4(JUP):c.1989C>T (p.Arg663=) rs145175985 0.00011
NM_002230.4(JUP):c.529C>T (p.Arg177Trp) rs148484473 0.00007
NM_002230.4(JUP):c.560C>T (p.Ala187Val) rs782370709 0.00005
NM_002230.4(JUP):c.1914C>T (p.Asn638=) rs368772249 0.00004
NM_002230.4(JUP):c.746C>T (p.Thr249Met) rs377612199 0.00004
NM_002230.4(JUP):c.1995C>T (p.Ser665=) rs782094877 0.00003
NM_002230.4(JUP):c.509C>T (p.Ser170Leu) rs782284038 0.00003
NM_002230.4(JUP):c.660C>T (p.Leu220=) rs782771003 0.00002
NM_002230.4(JUP):c.1299C>T (p.Ser433=) rs376345105 0.00001
NM_002230.4(JUP):c.2086+7G>C rs727504940 0.00001
NM_002230.4(JUP):c.209-8G>A rs1165044090 0.00001
NM_002230.4(JUP):c.250C>T (p.Arg84Trp) rs782306414 0.00001
NM_002230.4(JUP):c.1434C>A (p.Leu478=) rs1597801519
NM_002230.4(JUP):c.2188A>G (p.Ser730Gly) rs1009184280
NM_002230.4(JUP):c.708-3del
NM_002230.4(JUP):c.724G>T (p.Val242Phe)

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