ClinVar Miner

List of variants in gene CYP19A1 studied for aromatase deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000103.4(CYP19A1):c.-39+14659C>A rs28757082 0.03938
NM_000103.4(CYP19A1):c.-39+14572C>T rs530192973 0.00058
NM_000103.4(CYP19A1):c.-39+14646C>T rs931758970 0.00007
NM_000103.4(CYP19A1):c.-39+1G>A rs956997586 0.00005
NM_000103.4(CYP19A1):c.-39+14624_-39+14625del rs780146461
NM_000103.4(CYP19A1):c.-39+14640A>G rs376711291

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.