ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported by University of Washington Department of Laboratory Medicine, University of Washington

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_000051.4(ATM):c.5918+72A>G rs3218694 0.00314
NM_000051.4(ATM):c.7630-17T>C rs116047570 0.00268
NM_000051.4(ATM):c.8010+234T>C rs527325769 0.00197
NM_000051.4(ATM):c.5918+103G>A rs45569338 0.00100
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000051.4(ATM):c.5918+500T>G rs184838931 0.00083
NM_000051.4(ATM):c.5763-302A>G rs551916592 0.00038
NM_000051.4(ATM):c.8011-496T>C rs869312478 0.00002
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.7308A>C (p.Arg2436Ser) rs730881317
NM_000051.4(ATM):c.7788+3A>T rs869312788
NM_000051.4(ATM):c.8011-215G>C rs766286034

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.