ClinVar Miner

List of variants in gene STAR reported by Breakthrough Genomics, Breakthrough Genomics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000349.3(STAR):c.465+20A>G rs2720050 0.97715
NM_000349.3(STAR):c.65-64G>C rs2070347 0.03260
NM_000349.3(STAR):c.466-68C>A rs35602052 0.03200
NM_000349.3(STAR):c.*456C>T rs35045158 0.02530
NM_000349.3(STAR):c.306+54G>A rs35296192 0.02228
NM_000349.3(STAR):c.153G>A (p.Gln51=) rs72552290 0.01453
NM_000349.3(STAR):c.*116T>G rs35462433 0.00179
NM_000349.3(STAR):c.*88G>C rs112828857 0.00169
NM_000349.3(STAR):c.466-6T>C rs750028020 0.00002
NM_000349.3(STAR):c.178+113C>T rs144125045
NM_000349.3(STAR):c.189= (p.Leu63=)

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.