ClinVar Miner

List of variants in gene ATM reported as pathogenic by Integrated Genetics/Laboratory Corporation of America

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.1027_1030delGAAA rs587780612
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.1139_1142dup (p.Ser381fs) rs886041340
NM_000051.3(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.3(ATM):c.1339C>T (p.Arg447Ter) rs587779815
NM_000051.3(ATM):c.1562_1563GA[1] (p.Glu522fs) rs587779817
NM_000051.3(ATM):c.217_218del (p.Glu73fs) rs762089971
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.2T>C (p.Met1Thr) rs786203606
NM_000051.3(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.3(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833
NM_000051.3(ATM):c.3576G>A (p.Lys1192=) rs587776551
NM_000051.3(ATM):c.3663G>A (p.Trp1221Ter) rs864622490
NM_000051.3(ATM):c.3707_3711TTATT[1] (p.Leu1238fs) rs786201675
NM_000051.3(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.3(ATM):c.3894dup (p.Ala1299fs) rs587781823
NM_000051.3(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.3(ATM):c.4776+2T>C rs587781927
NM_000051.3(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.3(ATM):c.5177+1G>A rs1131691159
NM_000051.3(ATM):c.5290del (p.Leu1764fs) rs587779846
NM_000051.3(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.3(ATM):c.752_753TG[2] (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.3(ATM):c.790del (p.Tyr264fs) rs587781978
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.