ClinVar Miner

List of variants in gene CBL reported by Genome Diagnostics Laboratory, The Hospital for Sick Children

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Gene type:
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Total variants: 57
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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.2592C>T (p.Leu864=) rs1893177 0.03391
NM_005188.4(CBL):c.869+4A>G rs77284821 0.02038
NM_005188.4(CBL):c.513T>C (p.Ser171=) rs2227987 0.00741
NM_005188.4(CBL):c.1485G>A (p.Pro495=) rs2229072 0.00547
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.2484G>A (p.Pro828=) rs149533467 0.00166
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_005188.4(CBL):c.2036+9G>T rs142704935 0.00076
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
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.1942A>C (p.Ser648Arg) rs143264567 0.00035
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.1459A>G (p.Met487Val) rs17848896 0.00012
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu) rs146705974 0.00012
NM_005188.4(CBL):c.2359C>T (p.Arg787Cys) rs143132980 0.00011
NM_005188.4(CBL):c.2312A>T (p.Asp771Val) rs199788586 0.00010
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe) rs201631570 0.00008
NM_005188.4(CBL):c.1753C>T (p.Arg585Cys) rs187952822 0.00006
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe) rs2227986 0.00006
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu) rs369030902 0.00005
NM_005188.4(CBL):c.195+3G>A rs762062705 0.00004
NM_005188.4(CBL):c.819G>A (p.Thr273=) rs750907780 0.00004
NM_005188.4(CBL):c.1463C>T (p.Ala488Val) rs377502790 0.00002
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln) rs144894769 0.00002
NM_005188.4(CBL):c.2485C>T (p.Arg829Trp) rs761245258 0.00002
NM_005188.4(CBL):c.1178T>C (p.Ile393Thr) rs775272530 0.00001
NM_005188.4(CBL):c.1298C>T (p.Pro433Leu) rs140627020 0.00001
NM_005188.4(CBL):c.1687C>T (p.Arg563Cys) rs768837912 0.00001
NM_005188.4(CBL):c.2433A>G (p.Thr811=) rs200566020 0.00001
NM_005188.4(CBL):c.625C>G (p.Leu209Val) rs767162260 0.00001
NM_005188.4(CBL):c.*3927G>A rs970587770
NM_005188.4(CBL):c.*7578TC[1] rs376134331
NM_005188.4(CBL):c.1091C>T (p.Thr364Ile) rs2135303015
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005188.4(CBL):c.1100A>G (p.Gln367Arg) rs267606704
NM_005188.4(CBL):c.1149A>G (p.Ile383Met) rs2135303712
NM_005188.4(CBL):c.1212_1223dup (p.Cys404_Ser407dup) rs2135303865
NM_005188.4(CBL):c.1246T>A (p.Cys416Ser) rs1949907918
NM_005188.4(CBL):c.1516C>T (p.Arg506Ter) rs886041500
NM_005188.4(CBL):c.1794A>G (p.Val598=) rs760865008
NM_005188.4(CBL):c.1925G>A (p.Ser642Asn) rs571045498
NM_005188.4(CBL):c.1930G>T (p.Asp644Tyr) rs2135311043
NM_005188.4(CBL):c.2049G>A (p.Val683=) rs1950067375
NM_005188.4(CBL):c.204G>T (p.Arg68=) rs1193552867
NM_005188.4(CBL):c.2544C>T (p.Ala848=) rs2135322154
NM_005188.4(CBL):c.2708A>G (p.His903Arg) rs1950088762
NM_005188.4(CBL):c.355A>G (p.Met119Val) rs1173256276
NM_005188.4(CBL):c.534A>G (p.Thr178=) rs1346848498
NM_005188.4(CBL):c.747+10_747+11insTTAT rs1473693007
NM_005188.4(CBL):c.818C>G (p.Thr273Arg) rs1949876598
NM_005188.4(CBL):c.911C>G (p.Ala304Gly) rs2135301506

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