ClinVar Miner

List of variants in gene CBL reported by OMIM

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Gene type:
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Total variants: 10
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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.1111T>C (p.Tyr371His) rs267606706 0.00001
NM_005188.4(CBL):c.1228-1G>A rs587777540 0.00001
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005188.4(CBL):c.1112A>G (p.Tyr371Cys) rs387906666
NM_005188.4(CBL):c.1144A>G (p.Lys382Glu) rs267606705
NM_005188.4(CBL):c.1150T>C (p.Cys384Arg) rs387906664
NM_005188.4(CBL):c.1168G>T (p.Asp390Tyr) rs267606707
NM_005188.4(CBL):c.1186T>C (p.Cys396Arg) rs387906665
NM_005188.4(CBL):c.1228-2A>G rs727504426

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