ClinVar Miner

List of variants in gene TBC1D24 reported as pathogenic by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) rs765965968
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) rs397514713

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