ClinVar Miner

List of variants studied for CBL-related disorder by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) rs267606708 0.00001
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005188.4(CBL):c.1144A>G (p.Lys382Glu) rs267606705
NM_005188.4(CBL):c.1168G>T (p.Asp390Tyr) rs267606707

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