ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln) rs150811339 0.00036
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.2126G>A (p.Arg709Gln) rs770667508 0.00007
NM_005188.4(CBL):c.1753C>T (p.Arg585Cys) rs187952822 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.2666A>G (p.Lys889Arg) rs1369884955 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.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.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

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