List of variants in gene ATM reported as pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs)	rs886041340	0.00001
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)	rs55861249
NM_000051.4(ATM):c.1367del (p.Leu456fs)	rs1555070832
NM_000051.4(ATM):c.1898+2T>G	rs587782124
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)	rs587781658
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer)	rs786202695
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)	rs757237504
NM_000051.4(ATM):c.2921+1G>A	rs587781558
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)	rs786201675
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	rs587779834

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.