ClinVar Miner

List of variants in gene TMC1 reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138691.3(TMC1):c.1457T>C (p.Met486Thr) rs17058153 0.01664
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) rs113342704 0.00073
NM_138691.3(TMC1):c.696C>T (p.Ala232=) rs112843964 0.00047
NM_138691.3(TMC1):c.473G>A (p.Arg158His) rs148340276 0.00012
NM_138691.3(TMC1):c.1165C>T (p.Arg389Ter) rs151001642 0.00006
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138691.3(TMC1):c.1676G>A (p.Trp559Ter) rs876657728 0.00004
NM_138691.3(TMC1):c.1029+3A>G rs1588083737 0.00001
NM_138691.3(TMC1):c.1626G>A (p.Gly542=) rs778829243 0.00001
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866

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.