ClinVar Miner

List of variants in gene CBL reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.*560_*561insAT rs56722042 0.24273
NM_005188.4(CBL):c.*559_*560insC rs3833768 0.24253
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467 0.00166
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln) rs150811339 0.00036
NM_005188.4(CBL):c.1287C>T (p.Ile429=) rs148368481 0.00031
NM_005188.4(CBL):c.2513G>T (p.Gly838Val) rs144191570 0.00014
NM_005188.4(CBL):c.-5A>G rs552214111 0.00013
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu) rs146705974 0.00012
NM_005188.4(CBL):c.1432-6C>T rs371919794 0.00011
NM_005188.4(CBL):c.2542G>A (p.Ala848Thr) rs141710973 0.00010
NM_005188.4(CBL):c.1356C>T (p.Ser452=) rs150443504 0.00008
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe) rs201631570 0.00008
NM_005188.4(CBL):c.1299G>A (p.Pro433=) rs199633558 0.00007
NM_005188.4(CBL):c.2126G>A (p.Arg709Gln) rs770667508 0.00007
NM_005188.4(CBL):c.1753C>T (p.Arg585Cys) rs187952822 0.00006
NM_005188.4(CBL):c.869+10A>G rs768380727 0.00006
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala) rs538054260 0.00005
NM_005188.4(CBL):c.1723A>G (p.Arg575Gly) rs374515645 0.00005
NM_005188.4(CBL):c.2482C>T (p.Pro828Ser) rs371026706 0.00005
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe) rs730880434 0.00004
NM_005188.4(CBL):c.2073A>G (p.Gln691=) rs140298671 0.00004
NM_005188.4(CBL):c.2666A>G (p.Lys889Arg) rs1369884955 0.00003
NM_005188.4(CBL):c.2691C>T (p.Ser897=) rs762560254 0.00003
NM_005188.4(CBL):c.2485C>T (p.Arg829Trp) rs761245258 0.00002
NM_005188.4(CBL):c.698A>G (p.Asn233Ser) rs143276937 0.00002
NM_005188.4(CBL):c.1191A>G (p.Gly397=) rs761630653 0.00001
NM_005188.4(CBL):c.2451C>T (p.Ser817=) rs1214485253 0.00001
NM_005188.4(CBL):c.595A>G (p.Ile199Val) rs397517082 0.00001
NM_005188.4(CBL):c.660G>A (p.Glu220=) rs949933368 0.00001
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln) rs140627020
NM_005188.4(CBL):c.1365T>C (p.Tyr455=) rs749044865
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup) rs397507494
NM_005188.4(CBL):c.1384C>T (p.Arg462Ter) rs886041425
NM_005188.4(CBL):c.2047G>A (p.Val683Met) rs2135319783
NM_005188.4(CBL):c.231A>G (p.Leu77=) rs2135266156
NM_005188.4(CBL):c.2679G>A (p.Arg893=) rs2135322347
NM_005188.4(CBL):c.401A>G (p.Lys134Arg) rs2135266374
NM_005188.4(CBL):c.591-8C>T rs749291716
NM_005188.4(CBL):c.996C>T (p.Phe332=) rs2135301604

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