ClinVar Miner

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

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_015665.6(AAAS):c.-130C>T rs149864679
NM_015665.6(AAAS):c.-73G>A rs561616104
NM_015665.6(AAAS):c.-84G>A rs886049653
NM_015665.6(AAAS):c.11T>C (p.Leu4Pro) rs886049652
NM_015665.6(AAAS):c.124-4A>G rs886049651
NM_015665.6(AAAS):c.1244T>C (p.Met415Thr) rs200871966
NM_015665.6(AAAS):c.1249+8G>A rs200834285
NM_015665.6(AAAS):c.1300C>T (p.Arg434Ter) rs751369041
NM_015665.6(AAAS):c.1301G>A (p.Arg434Gln) rs112579822
NM_015665.6(AAAS):c.1416+8C>T rs370325323
NM_015665.6(AAAS):c.1450C>G (p.Leu484Val) rs764298213
NM_015665.6(AAAS):c.1498C>T (p.Arg500Trp) rs886049649
NM_015665.6(AAAS):c.1566C>T (p.Ser522=) rs886049648
NM_015665.6(AAAS):c.1591C>T (p.Leu531Phe) rs886049647
NM_015665.6(AAAS):c.200C>T (p.Thr67Ile) rs1114167372
NM_015665.6(AAAS):c.258T>A (p.Asp86Glu) rs749899811
NM_015665.6(AAAS):c.259G>T (p.Val87Leu) rs766985003
NM_015665.6(AAAS):c.333C>T (p.Ser111=) rs146770218
NM_015665.6(AAAS):c.63C>G (p.His21Gln) rs200408293
NM_015665.6(AAAS):c.65A>G (p.Asn22Ser) rs774899476
NM_015665.6(AAAS):c.663C>G (p.Thr221=) rs886049650
NM_015665.6(AAAS):c.679T>C (p.Leu227=) rs80027466
NM_015665.6(AAAS):c.843C>G (p.Pro281=) rs145196232
NM_015665.6(AAAS):c.894C>T (p.Asp298=) rs199636211
NM_015665.6(AAAS):c.912T>G (p.Ala304=) rs138749872
NM_015665.6(AAAS):c.936-2A>G rs1565777639
NM_015665.6(AAAS):c.939C>T (p.Val313=) rs79881935
NM_015665.6(AAAS):c.996+12C>T rs200312077

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.