ClinVar Miner

List of variants in gene ATM reported as pathogenic for Familial cancer of breast; Ataxia-telangiectasia syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.3(ATM):c.1369C>T (p.Arg457Ter) rs749036865
NM_000051.3(ATM):c.1442T>G (p.Leu481Ter) rs1555070980
NM_000051.3(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.3(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2413C>T (p.Arg805Ter) rs780619951
NM_000051.3(ATM):c.2554C>T (p.Gln852Ter) rs758081262
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833
NM_000051.3(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.3(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.901+1G>A rs748840480

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.