ClinVar Miner

List of variants in gene CBL reported as pathogenic for not provided

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) rs267606708 0.00002
NM_005188.4(CBL):c.1096-1G>T rs397517076 0.00001
NM_005188.4(CBL):c.1111T>C (p.Tyr371His) rs267606706 0.00001
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005188.4(CBL):c.1103_1108del (p.Tyr368_Glu369del)
NM_005188.4(CBL):c.1111T>G (p.Tyr371Asp)
NM_005188.4(CBL):c.1141T>C (p.Cys381Arg) rs757874631
NM_005188.4(CBL):c.1150T>C (p.Cys384Arg) rs387906664
NM_005188.4(CBL):c.1166A>C (p.Lys389Thr) rs1949904868
NM_005188.4(CBL):c.1186T>C (p.Cys396Arg) rs387906665
NM_005188.4(CBL):c.1199T>G (p.Met400Arg) rs397507491
NM_005188.4(CBL):c.1201T>C (p.Cys401Arg) rs397507492
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005188.4(CBL):c.306T>G (p.Tyr102Ter) rs397507489

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