ClinVar Miner

List of variants in gene CBL reported as likely benign for Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

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Total variants: 8
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HGVS dbSNP
NM_005188.3(CBL):c.1287C>T (p.Ile429=) rs148368481
NM_005188.3(CBL):c.1629A>G (p.Pro543=) rs558577411
NM_005188.3(CBL):c.1920G>A (p.Thr640=) rs202158626
NM_005188.3(CBL):c.2097G>A (p.Glu699=) rs1057519031
NM_005188.4(CBL):c.1227+4C>T rs201747825
NM_005188.4(CBL):c.1353C>T (p.Pro451=)
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln) rs374672276

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