ClinVar Miner

List of variants in gene LOC126862088, TRPM1 studied for TRPM1-related retinopathy

Included ClinVar conditions (1):
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_001252024.2(TRPM1):c.3444C>T (p.Gly1148=) rs79581534 0.00452
NM_001252024.2(TRPM1):c.3549G>C (p.Gln1183His) rs182549235 0.00354
NM_001252024.2(TRPM1):c.3624T>C (p.Ser1208=) rs370122578 0.00007
NM_001252024.2(TRPM1):c.3563A>T (p.His1188Leu) rs577672274 0.00003
NM_001252024.2(TRPM1):c.3410G>T (p.Ser1137Ile) rs375136665 0.00001
NM_001252024.2(TRPM1):c.3533A>G (p.His1178Arg) rs776483887 0.00001
NM_001252024.2(TRPM1):c.3496+2T>C rs773030662
NM_001252024.2(TRPM1):c.3496_3496+1del
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs) rs778390089
NM_001252024.2(TRPM1):c.3572del (p.Glu1191fs)

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.