ClinVar Miner

List of variants in gene TMC1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
GRCh37/hg19 9q21.13(chr9:75161655-75429310)x1
NM_138691.2(TMC1):c.100C>T (p.Arg34Ter) rs121908073
NM_138691.2(TMC1):c.1236del (p.Met413fs) rs876657727
NM_138691.2(TMC1):c.135C>A (p.Thr45=) rs111353632
NM_138691.2(TMC1):c.1449A>C (p.Glu483Asp) rs1554728060
NM_138691.2(TMC1):c.1457T>C (p.Met486Thr) rs17058153
NM_138691.2(TMC1):c.1534C>T (p.Arg512Ter) rs200171616
NM_138691.2(TMC1):c.1713C>T (p.Phe571=) rs34532421
NM_138691.2(TMC1):c.1763+3A>G rs370898981
NM_138691.2(TMC1):c.2130-1del rs1554731002
NM_138691.2(TMC1):c.238_240GAA[3] (p.Glu83del) rs376040866
NM_138691.2(TMC1):c.241G>A (p.Glu81Lys) rs1796993
NM_138691.2(TMC1):c.373A>C (p.Lys125Gln) rs377607548
NM_138691.2(TMC1):c.421C>T (p.Arg141Trp) rs11143384
NM_138691.2(TMC1):c.45C>T (p.Asp15=) rs2589615
NM_138691.2(TMC1):c.582G>A (p.Trp194Ter) rs1172357346
NM_138691.2(TMC1):c.795A>C (p.Thr265=) rs140398130

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.