ClinVar Miner

List of variants in gene TBC1D24 reported as pathogenic by GeneDx

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Total variants: 11
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HGVS dbSNP
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter) rs1057524191
NM_001199107.2(TBC1D24):c.1526-2A>C rs1131691552
NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter) rs763626059
NM_001199107.2(TBC1D24):c.557del (p.Leu186fs) rs1131691737
NM_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter) rs201257588
NM_001199107.2(TBC1D24):c.619C>T (p.Gln207Ter) rs770107050
NM_001199107.2(TBC1D24):c.691_700delinsCTT (p.Val231fs) rs796053407
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224
NM_001199107.2(TBC1D24):c.971C>A (p.Ser324Ter) rs1567412736

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