ClinVar Miner

List of variants in gene AAAS reported as pathogenic for adrenal gland disease

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_015665.6(AAAS):c.1087+1G>A rs1035139364
NM_015665.6(AAAS):c.1140_1143TCTG[1] (p.Ser382fs) rs770214071
NM_015665.6(AAAS):c.1288C>T (p.Leu430Phe) rs121918551
NM_015665.6(AAAS):c.1331+1G>A rs150511103
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter) rs121918548
NM_015665.6(AAAS):c.251G>A (p.Trp84Ter) rs754637718
NM_015665.6(AAAS):c.400-2A>G rs1565781382
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter) rs121918547
NM_015665.6(AAAS):c.938T>C (p.Val313Ala) rs773601814
NM_015665.6(AAAS):c.980dup (p.Ser328fs) rs387906326

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.