ClinVar Miner

List of variants in gene CBL reported as benign by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 27
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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.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.2036+9G>T rs142704935 0.00076
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_005188.4(CBL):c.1564-13C>T rs117902985 0.00039
NM_005188.4(CBL):c.-5A>G rs552214111 0.00013
NM_005188.4(CBL):c.1459A>G (p.Met487Val) rs17848896 0.00012
NM_005188.4(CBL):c.1432-6C>T rs371919794 0.00011
NM_005188.4(CBL):c.1299G>A (p.Pro433=) rs199633558 0.00007
NM_005188.4(CBL):c.1443G>T (p.Pro481=) rs768111719 0.00007
NM_005188.4(CBL):c.2252-8T>C rs555179188 0.00006
NM_005188.4(CBL):c.1095+18_1095+19delinsGT rs2135303045
NM_005188.4(CBL):c.1228-10dup rs397517078
NM_005188.4(CBL):c.1228-20_1228-17del rs370327162
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup) rs397507494
NM_005188.4(CBL):c.869+44dup rs3842642

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