ClinVar Miner

List of variants in gene ATR reported as pathogenic for not provided

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Gene type:
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Total variants: 83
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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.4957C>T (p.Arg1653Ter) rs778813551 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.(?_142172542)_(142176606_?)del
NC_000003.11:g.(?_142266690)_(142272517_?)del
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.1048del (p.Leu350fs)
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.2261C>A (p.Ser754Ter)
NM_001184.4(ATR):c.2320del (p.Ile774fs) rs757500301
NM_001184.4(ATR):c.2320dup (p.Ile774fs) rs757500301
NM_001184.4(ATR):c.2357del (p.Leu786fs)
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.3876del (p.Gln1293fs)
NM_001184.4(ATR):c.3889del (p.Val1297fs)
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.459del (p.Phe153fs)
NM_001184.4(ATR):c.4712del (p.Ser1571fs)
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.513G>A (p.Trp171Ter)
NM_001184.4(ATR):c.5218dup (p.Val1740fs) rs2108351820
NM_001184.4(ATR):c.529C>T (p.Arg177Ter) rs1173523308
NM_001184.4(ATR):c.541C>T (p.Gln181Ter)
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.6558_6562del (p.Tyr2187fs)
NM_001184.4(ATR):c.6687+2T>C rs2071168232
NM_001184.4(ATR):c.6836dup (p.Asn2279fs) rs749656305
NM_001184.4(ATR):c.6950C>G (p.Ser2317Ter)
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)
NM_001184.4(ATR):c.979_980del (p.Val327fs) rs773937499

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