ClinVar Miner

List of variants in gene TBC1D24 reported as uncertain significance for DOORS syndrome; Myoclonic epilepsy, familial infantile; Deafness, autosomal recessive 86; Early infantile epileptic encephalopathy 16; Deafness, autosomal dominant 65

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Total variants: 3
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HGVS dbSNP
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) rs370477379
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) rs375307187
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840

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