ClinVar Miner

List of variants in gene CBL reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_005188.4(CBL):c.1227+20dup rs530081144 0.00095
NM_005188.4(CBL):c.1287C>T (p.Ile429=) rs148368481 0.00031
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser) rs146250423 0.00019
NM_005188.4(CBL):c.-5A>G rs552214111 0.00013
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.2542G>A (p.Ala848Thr) rs141710973 0.00010
NM_005188.4(CBL):c.2268C>T (p.Ala756=) rs142564074 0.00009
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe) rs201631570 0.00008
NM_005188.4(CBL):c.951A>G (p.Thr317=) rs34851541 0.00007
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe) rs2227986 0.00006
NM_005188.4(CBL):c.2252-8T>C rs555179188 0.00006
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala) rs538054260 0.00005
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu) rs369030902 0.00005
NM_005188.4(CBL):c.1638G>A (p.Pro546=) rs375702554 0.00004
NM_005188.4(CBL):c.837T>C (p.Ala279=) rs140250592 0.00004
NM_005188.4(CBL):c.1353C>T (p.Pro451=) rs201616881 0.00003
NM_005188.4(CBL):c.1777C>T (p.Arg593Trp) rs776999573 0.00002
NM_005188.4(CBL):c.1221C>T (p.Ser407=) rs751978701 0.00001
NM_005188.4(CBL):c.1320C>T (p.Gly440=) rs794727972 0.00001
NM_005188.4(CBL):c.1959A>G (p.Pro653=) rs752080219 0.00001
NM_005188.4(CBL):c.2169C>T (p.Asp723=) rs1447136408 0.00001
NM_005188.4(CBL):c.2292C>T (p.Pro764=) rs538991997 0.00001
NM_005188.4(CBL):c.2316T>G (p.Asp772Glu) rs774428573 0.00001
NM_005188.4(CBL):c.246T>G (p.Pro82=) rs764747073 0.00001
NM_005188.4(CBL):c.660G>A (p.Glu220=) rs949933368 0.00001
NM_005188.4(CBL):c.714T>G (p.Val238=) rs371523922 0.00001
NM_005188.4(CBL):c.1296T>C (p.Asp432=) rs1188095865
NM_005188.4(CBL):c.1431+10C>T
NM_005188.4(CBL):c.1530C>G (p.Pro510=)
NM_005188.4(CBL):c.1614A>G (p.Thr538=) rs1408642074
NM_005188.4(CBL):c.1629A>G (p.Pro543=) rs558577411
NM_005188.4(CBL):c.1710C>A (p.Gly570=)
NM_005188.4(CBL):c.2052A>C (p.Pro684=) rs886047771
NM_005188.4(CBL):c.2394C>T (p.Ser798=) rs773256658
NM_005188.4(CBL):c.486G>C (p.Leu162=)
NM_005188.4(CBL):c.729C>T (p.Ile243=)
NM_005188.4(CBL):c.748-21_748-20del rs773513557
NM_005188.4(CBL):c.748-3T>C rs1060500677
NM_005188.4(CBL):c.951A>T (p.Thr317=)

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