ClinVar Miner

List of variants studied for adrenal cortex disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_182977.3(NNT):c.1098+17T>C rs16873430 0.01000
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) rs28934586 0.00002
NM_000497.4(CYP11B1):c.1399-14G>A rs5295
NM_000497.4(CYP11B1):c.766C>T (p.His256Tyr) rs1816963218
NM_000890.5(KCNJ5):c.-9A>C rs752992023
NM_001128840.3(CACNA1D):c.5906C>A (p.Ala1969Asp) rs2095587946
NM_182977.3(NNT):c.1575dup (p.Pro526fs) rs1739624229
NM_182977.3(NNT):c.80G>A (p.Arg27His) rs34241095

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.