ClinVar Miner

List of variants in gene TBC1D24 reported by Division of Medical Genetics; Sainte-Justine Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) rs765965968
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.1460dup (p.His487fs) rs797044549
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.313T>C (p.Cys105Arg) rs797044547
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
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.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_001199107.2(TBC1D24):c.999G>T (p.Leu333Phe) rs797044548
NM_020705.3(TBC1D24):c.966-529GT[2] rs398122941

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.