ClinVar Miner

List of variants in gene CBL reported as benign by Invitae

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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.1095+19G>T rs2510152 0.61865
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.869+19A>G rs181589369 0.00232
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_005188.4(CBL):c.870-19del rs548130600 0.00185
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.2466G>A (p.Arg822=) rs556564719 0.00114
NM_005188.4(CBL):c.1227+20dup rs530081144 0.00095
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.1564-13C>T rs117902985 0.00039
NM_005188.4(CBL):c.590+20A>G rs769677676 0.00009
NM_005188.4(CBL):c.195+13C>T rs893347300 0.00008
NM_005188.4(CBL):c.1299G>A (p.Pro433=) rs199633558 0.00007
NM_005188.4(CBL):c.1643C>T (p.Pro548Leu) rs17848897 0.00006
NM_005188.4(CBL):c.2252-8T>C rs555179188 0.00006
NM_005188.4(CBL):c.1777C>T (p.Arg593Trp) rs776999573 0.00002
NM_005188.4(CBL):c.1228-10dup rs397517078
NM_005188.4(CBL):c.1228-20_1228-17del rs370327162
NM_005188.4(CBL):c.1432-12del
NM_005188.4(CBL):c.1629A>G (p.Pro543=) rs558577411
NM_005188.4(CBL):c.2251+14_2251+22del rs568433114
NM_005188.4(CBL):c.747+16del rs2135299171

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