ClinVar Miner

List of variants in gene ATM 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: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.185+616T>C rs4987905 0.01235
NM_000051.4(ATM):c.3993+133A>G rs142220799 0.00855
NM_000051.4(ATM):c.3747-34A>G rs3092840 0.00656
NM_000051.4(ATM):c.5496+231G>A rs4988039 0.00229
NM_000051.4(ATM):c.-31+1129T>A rs552689366 0.00163
NM_000051.4(ATM):c.2838+194A>G rs749105426 0.00132
NM_000051.4(ATM):c.2125-88T>A rs189045169 0.00098
NM_000051.4(ATM):c.3284+382T>C rs189826589 0.00046
NM_000051.4(ATM):c.4109+54A>T rs181020146 0.00040
NM_000051.4(ATM):c.-31+1782A>C rs749439725 0.00019
NM_000051.4(ATM):c.5320-23T>A rs753483198 0.00010
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.3994-830A>C rs869312479 0.00002
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.-31+1135C>T rs869312481
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.4(ATM):c.2124+409A>G rs869312477
NM_000051.4(ATM):c.2377-397A>G rs869312476
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2960G>A (p.Cys987Tyr) rs1555085052
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.5005+302A>T rs869312480
NM_000051.4(ATM):c.5762+1G>T rs869312756

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.