ClinVar Miner

List of variants in gene ANO6 studied for Scott syndrome

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_001025356.3(ANO6):c.1387-1G>T rs374664255 0.00011
NM_001025356.3(ANO6):c.1880+1G>A rs371269172 0.00002
NM_001025356.3(ANO6):c.1219dup (p.Trp407fs)
NM_001025356.3(ANO6):c.1255C>T (p.Arg419Ter)
NM_001025356.3(ANO6):c.1308+2T>C rs2137575812
NM_001025356.3(ANO6):c.1622G>A (p.Arg541Lys)
NM_001025356.3(ANO6):c.1914_1915del (p.Arg638fs) rs750168369
NM_001025356.3(ANO6):c.2660C>T (p.Thr887Met)
NM_001025356.3(ANO6):c.747+1G>A
NM_001025356.3(ANO6):c.826C>T (p.Arg276Ter)

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.