ClinVar Miner

List of variants in gene TBC1D24 reported by OMIM

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Total variants: 18
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HGVS dbSNP
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967
NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His)
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) rs398122966
NM_001199107.2(TBC1D24):c.1206+5G>A rs398122968
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) rs564477999
NM_001199107.2(TBC1D24):c.1501G>A (p.Gly501Arg)
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105
NM_001199107.2(TBC1D24):c.208G>T (p.Asp70Tyr) rs587777147
NM_001199107.2(TBC1D24):c.229_240ATCGTGGGCAAG[1] (p.77_80IVGK[1]) rs761918906
NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His) rs267607103
NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter) rs397514714
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu) rs483352866
NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu) rs201257588
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) rs397514713
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965
NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu) rs267607104
NM_001199107.2(TBC1D24):c.878G>C (p.Arg293Pro) rs199700840
NM_020705.3(TBC1D24):c.966-529GT[2] rs398122941

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