ClinVar Miner

List of variants in gene STAR reported as likely benign for adrenocortical insufficiency

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000349.3(STAR):c.*456C>T rs35045158 0.02530
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868 0.00193
NM_000349.3(STAR):c.687G>A (p.Pro229=) rs35852516 0.00180
NM_000349.3(STAR):c.141G>A (p.Thr47=) rs147318238 0.00173
NM_000349.3(STAR):c.504C>T (p.His168=) rs147138315 0.00134
NM_000349.3(STAR):c.759G>A (p.Lys253=) rs146000965 0.00009
NM_000349.3(STAR):c.738C>T (p.Asp246=) rs758031518 0.00006
NM_000349.3(STAR):c.402T>C (p.Tyr134=) rs144881901 0.00005
NM_000349.3(STAR):c.64+7G>C rs769781083 0.00004
NM_000349.3(STAR):c.64+9T>C rs761733155 0.00001
NM_000349.3(STAR):c.120G>A (p.Leu40=) rs138786388
NM_000349.3(STAR):c.158G>T (p.Arg53Leu) rs529036391
NM_000349.3(STAR):c.720G>C (p.Thr240=) rs768179486

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.