ClinVar Miner

List of variants in gene CBL reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_005188.4(CBL):c.*5632C>T rs143069410 0.00384
NM_005188.4(CBL):c.*2176T>C rs143211426 0.00375
NM_005188.4(CBL):c.*4031C>G rs117973382 0.00313
NM_005188.4(CBL):c.*567G>A rs573261482 0.00285
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_005188.4(CBL):c.*1918C>T rs528450894 0.00210
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.*6703T>C rs562568416 0.00091
NM_005188.4(CBL):c.*918T>C rs541035764 0.00083
NM_005188.4(CBL):c.*6575G>C rs569180524 0.00077
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.*3154C>T rs112984401 0.00073
NM_005188.4(CBL):c.*2224A>G rs550910545 0.00065
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_005188.4(CBL):c.*615C>T rs769151797 0.00047
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.2513G>T (p.Gly838Val) rs144191570 0.00014
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.1299G>A (p.Pro433=) rs199633558 0.00007
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe) rs2227986 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.1911C>T (p.Leu637=) rs552760421 0.00004
NM_005188.4(CBL):c.2073A>G (p.Gln691=) rs140298671 0.00004
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln) rs374672276 0.00004
NM_005188.4(CBL):c.1468C>G (p.Gln490Glu) rs1368426444 0.00002
NM_005188.4(CBL):c.1008-8C>T rs1172261425 0.00001
NM_005188.4(CBL):c.1804G>T (p.Ala602Ser) rs1365230067 0.00001
NM_005188.4(CBL):c.1069C>T (p.Pro357Ser) rs2135302988
NM_005188.4(CBL):c.1096-7A>G rs1057517968
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005188.4(CBL):c.1119G>T (p.Glu373Asp) rs571152174
NM_005188.4(CBL):c.1222T>C (p.Trp408Arg) rs755557498
NM_005188.4(CBL):c.1247G>C (p.Cys416Ser) rs757456261
NM_005188.4(CBL):c.392G>A (p.Ser131Asn)
NM_005188.4(CBL):c.393C>T (p.Ser131=)
NM_005188.4(CBL):c.561G>A (p.Ala187=)
NM_005188.4(CBL):c.729C>T (p.Ile243=)

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