ClinVar Miner

List of variants in gene TBC1D24 reported as likely pathogenic by GeneDx

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Total variants: 11
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HGVS dbSNP
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) rs564477999
NM_001199107.2(TBC1D24):c.192C>A (p.Cys64Ter) rs878854271
NM_001199107.2(TBC1D24):c.229_240ATCGTGGGCAAG[1] (p.77_80IVGK[1]) rs761918906
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys) rs1057524192
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs) rs796053403
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter) rs745800110
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) rs756181906

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