ClinVar Miner

List of variants in gene TBC1D24 reported as pathogenic by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 8
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NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) rs398122966
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) rs760474458
NM_001199107.2(TBC1D24):c.1206+5G>A rs398122968
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu) rs201257588
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965
NM_001199107.2(TBC1D24):c.999G>T (p.Leu333Phe) rs797044548

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