ClinVar Miner

List of variants in gene TBC1D24 reported as pathogenic for Myoclonic epilepsy, familial infantile

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Total variants: 4
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HGVS dbSNP
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105
NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His) rs267607103
NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu) rs267607104
NM_020705.2(TBC1D24):c.[338C>A];[476T>C]

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