ClinVar Miner

List of variants studied for ataxia telangiectasia by DASA

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294 0.00003
NM_000051.4(ATM):c.72+1G>A rs786204088 0.00001
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs) rs587782847
NM_004333.6(BRAF):c.1411G>T (p.Val471Phe) rs121913376
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036

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.