ClinVar Miner

List of variants in gene CBL reported as pathogenic for Rasopathy

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Total variants: 7
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HGVS dbSNP
NM_005188.2:c.1227+2_1227+3delTACinsAAG
NM_005188.3(CBL):c.1076_1087del (p.Asp359_Lys362del) rs397507490
NM_005188.3(CBL):c.1096-1G>T rs397517076
NM_005188.3(CBL):c.1096-4_1096-1del rs397517077
NM_005188.3(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005188.3(CBL):c.1111T>C (p.Tyr371His) rs267606706
NM_005188.3(CBL):c.1227+2_1227+4delinsAAG rs397507493

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