ClinVar Miner

List of variants studied for CBL-related disorder by 3billion

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.1139T>C (p.Leu380Pro) rs1377506801 0.00001
NM_005188.4(CBL):c.1111T>G (p.Tyr371Asp) rs267606706
NM_005188.4(CBL):c.1228-2A>G rs727504426

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