ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP
NM_005188.3(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005188.3(CBL):c.1144A>G (p.Lys382Glu) rs267606705
NM_005188.3(CBL):c.1168G>T (p.Asp390Tyr) rs267606707
NM_005188.3(CBL):c.1259G>A (p.Arg420Gln) rs267606708
NM_005188.4(CBL):c.1096-2A>T rs1592400784

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