ClinVar Miner

List of variants in gene CBL reported by ITMI

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Gene type:
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Total variants: 12
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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.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_005188.4(CBL):c.560C>T (p.Ala187Val) rs587778162 0.00002
NM_005188.4(CBL):c.2125C>T (p.Arg709Trp) rs587778155 0.00001
NM_005188.4(CBL):c.2393C>T (p.Ser798Phe) rs587778158 0.00001
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg) rs587778159 0.00001
NM_005188.4(CBL):c.271A>G (p.Thr91Ala) rs587778160 0.00001
NM_005188.4(CBL):c.388A>G (p.Ile130Val) rs587778161 0.00001
NM_005188.4(CBL):c.2050C>T (p.Pro684Ser) rs587778154
NM_005188.4(CBL):c.2077G>A (p.Glu693Lys) rs587778156
NM_005188.4(CBL):c.2224C>T (p.Pro742Ser) rs587778157

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