ClinVar Miner

List of variants in gene ATR reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 67
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001184.4(ATR):c.6897+464C>G rs587777852 0.00010
NM_001184.4(ATR):c.3043C>T (p.Arg1015Ter) rs1453839157 0.00001
NM_001184.4(ATR):c.4915_4918dup (p.Thr1640fs) rs1489580832 0.00001
NM_001184.4(ATR):c.5656C>T (p.Arg1886Ter) rs141429029 0.00001
NM_001184.4(ATR):c.6022C>T (p.Arg2008Ter) rs148465901 0.00001
NM_001184.4(ATR):c.7273C>T (p.Arg2425Ter) rs1310011888 0.00001
NC_000003.11:g.(?_142272059)_(142275427_?)del
NC_000003.12:g.(?_142485130)_(142493321_?)del
NC_000003.12:g.(?_142568053)_(142568164_?)del
NC_000003.12:g.142536202del rs2108427672
NM_001184.4(ATR):c.1358_1359del (p.His453fs) rs886044646
NM_001184.4(ATR):c.1361del (p.Val454fs) rs2034835255
NM_001184.4(ATR):c.138del (p.Asp47fs)
NM_001184.4(ATR):c.1491_1492insAA (p.Gln498fs)
NM_001184.4(ATR):c.1492C>T (p.Gln498Ter)
NM_001184.4(ATR):c.1715dup (p.Leu573fs)
NM_001184.4(ATR):c.184C>T (p.Gln62Ter)
NM_001184.4(ATR):c.1885dup (p.Ser629fs) rs2034767520
NM_001184.4(ATR):c.1953G>A (p.Trp651Ter)
NM_001184.4(ATR):c.2028dup (p.Ile677fs)
NM_001184.4(ATR):c.2137C>T (p.Gln713Ter)
NM_001184.4(ATR):c.2320del (p.Ile774fs) rs757500301
NM_001184.4(ATR):c.2320dup (p.Ile774fs) rs757500301
NM_001184.4(ATR):c.2593_2594dup (p.Leu865_Lys866insTer) rs2108464344
NM_001184.4(ATR):c.2643del (p.Gly882fs)
NM_001184.4(ATR):c.2669T>G (p.Leu890Ter)
NM_001184.4(ATR):c.2687_2690del (p.Leu896fs)
NM_001184.4(ATR):c.2799_2800del (p.Ile933fs)
NM_001184.4(ATR):c.2831del (p.Ser944fs)
NM_001184.4(ATR):c.3112del (p.Ser1038fs)
NM_001184.4(ATR):c.3112dup (p.Ser1038fs)
NM_001184.4(ATR):c.3291del (p.Ala1098fs)
NM_001184.4(ATR):c.3402dup (p.Asn1135Ter) rs1043355995
NM_001184.4(ATR):c.3409C>T (p.Gln1137Ter)
NM_001184.4(ATR):c.3477G>T (p.Met1159Ile) rs587777851
NM_001184.4(ATR):c.3514del (p.Arg1171_Val1172insTer)
NM_001184.4(ATR):c.3567_3568dup (p.Glu1190fs) rs2108437904
NM_001184.4(ATR):c.3688dup (p.Thr1230fs)
NM_001184.4(ATR):c.3856C>T (p.Gln1286Ter) rs2108425112
NM_001184.4(ATR):c.392T>A (p.Leu131Ter) rs2108488694
NM_001184.4(ATR):c.4102C>T (p.Arg1368Ter)
NM_001184.4(ATR):c.430del (p.Val144fs)
NM_001184.4(ATR):c.4460_4461del (p.Phe1487fs)
NM_001184.4(ATR):c.4507C>T (p.Arg1503Ter)
NM_001184.4(ATR):c.451del (p.Gln151fs)
NM_001184.4(ATR):c.4896dup (p.Leu1633fs) rs2108361393
NM_001184.4(ATR):c.4912C>T (p.Gln1638Ter)
NM_001184.4(ATR):c.5029C>T (p.Gln1677Ter)
NM_001184.4(ATR):c.5218dup (p.Val1740fs) rs2108351820
NM_001184.4(ATR):c.529C>T (p.Arg177Ter) rs1173523308
NM_001184.4(ATR):c.5536C>T (p.Arg1846Ter)
NM_001184.4(ATR):c.5563del (p.His1855fs) rs2108336968
NM_001184.4(ATR):c.5605del (p.Gln1869fs)
NM_001184.4(ATR):c.5679del (p.Tyr1894fs) rs2108335952
NM_001184.4(ATR):c.5720del (p.Leu1907fs)
NM_001184.4(ATR):c.5786_5787insCTAGAAAG (p.Arg1929delinsSerTer) rs2108333799
NM_001184.4(ATR):c.5851C>T (p.Arg1951Ter) rs758234545
NM_001184.4(ATR):c.5863dup (p.Leu1955fs)
NM_001184.4(ATR):c.5870_5877dup (p.Ala1960fs) rs2108333550
NM_001184.4(ATR):c.6001C>T (p.Arg2001Ter)
NM_001184.4(ATR):c.6463G>T (p.Glu2155Ter)
NM_001184.4(ATR):c.6836dup (p.Asn2279fs) rs749656305
NM_001184.4(ATR):c.7013dup (p.Met2339fs)
NM_001184.4(ATR):c.7051_7055del (p.Lys2351fs)
NM_001184.4(ATR):c.7087C>T (p.Arg2363Ter)
NM_001184.4(ATR):c.7550_7553dup (p.Asn2518delinsLysTer) rs2108257635
NM_001184.4(ATR):c.78_82del (p.Asn27fs)

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.