ClinVar Miner

List of variants in gene TBC1D24 reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00334
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477 0.00306
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500 0.00216
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169 0.00200
NM_001199107.2(TBC1D24):c.-7C>T rs199852092 0.00126
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_001199107.2(TBC1D24):c.663C>T (p.Pro221=) rs148670169 0.00019
NM_001199107.2(TBC1D24):c.447C>T (p.Ala149=) rs755794991 0.00011
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140 0.00009
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser) rs772054145 0.00002
NM_001199107.2(TBC1D24):c.651T>C (p.Phe217=) rs750100459 0.00001
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) rs370477379 0.00001
NM_001199107.2(TBC1D24):c.1606del (p.Gln536fs) rs1567414972
NM_001199107.2(TBC1D24):c.554_559del (p.Asp185_Leu186del) rs1215641557

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.