ClinVar Miner

List of variants in gene ATR reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033 0.01036
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763 0.00813
NM_001184.4(ATR):c.423T>C (p.Ile141=) rs10935466 0.00416
NM_001184.4(ATR):c.4764C>T (p.Leu1588=) rs142240637 0.00415
NM_001184.4(ATR):c.4820G>A (p.Ser1607Asn) rs55724025 0.00414
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273 0.00349
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665 0.00340
NM_001184.4(ATR):c.816A>G (p.Ser272=) rs34685245 0.00211
NM_001184.4(ATR):c.2844A>C (p.Ala948=) rs147286949 0.00177
NM_001184.4(ATR):c.992A>G (p.Asp331Gly) rs150008448 0.00120
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr) rs150339560 0.00078
NM_001184.4(ATR):c.2226T>C (p.Cys742=) rs147895945 0.00071
NM_001184.4(ATR):c.5931A>G (p.Gln1977=) rs150964938 0.00069
NM_001184.4(ATR):c.993C>T (p.Asp331=) rs139379319 0.00058
NM_001184.4(ATR):c.4351C>T (p.Arg1451Trp) rs148064542 0.00041
NM_001184.4(ATR):c.4323A>G (p.Gln1441=) rs56100509 0.00039
NM_001184.4(ATR):c.2946C>T (p.Phe982=) rs138061993 0.00037
NM_001184.4(ATR):c.2704T>C (p.Ser902Pro) rs146202702 0.00036
NM_001184.4(ATR):c.1764A>G (p.Glu588=) rs149482096 0.00031
NM_001184.4(ATR):c.2688G>A (p.Leu896=) rs117926957 0.00021
NM_001184.4(ATR):c.483A>G (p.Arg161=) rs182268224 0.00021
NM_001184.4(ATR):c.3888T>C (p.Asn1296=) rs143268462 0.00015
NM_001184.4(ATR):c.1885+7G>A rs74282951 0.00013
NM_001184.4(ATR):c.1411G>C (p.Glu471Gln) rs371350410 0.00011
NM_001184.4(ATR):c.3642T>C (p.His1214=) rs139078985 0.00011
NM_001184.4(ATR):c.4944C>G (p.Ser1648=) rs200668215 0.00011
NM_001184.4(ATR):c.6897+464C>G rs587777852 0.00010
NM_001184.4(ATR):c.7902C>T (p.Cys2634=) rs553715098 0.00008
NM_001184.4(ATR):c.2922G>A (p.Thr974=) rs763559215 0.00004
NM_001184.4(ATR):c.3891C>T (p.Val1297=) rs535173549 0.00004
NM_001184.4(ATR):c.1182C>T (p.Gly394=) rs761676898 0.00003
NM_001184.4(ATR):c.4846T>G (p.Ser1616Ala) rs201492267 0.00003
NM_001184.4(ATR):c.3198C>T (p.Ser1066=) rs754127656 0.00002
NM_001184.4(ATR):c.3690T>C (p.Thr1230=) rs776691983 0.00001
NM_001184.4(ATR):c.4260C>T (p.Ala1420=) rs141720641 0.00001
NM_001184.4(ATR):c.5100A>G (p.Pro1700=) rs775736963 0.00001
NM_001184.4(ATR):c.5303A>G (p.Asp1768Gly) rs763130593 0.00001
NM_001184.4(ATR):c.6433T>C (p.Leu2145=) rs754739284 0.00001
NM_001184.4(ATR):c.7273C>T (p.Arg2425Ter) rs1310011888 0.00001
NM_001184.4(ATR):c.7504-17A>T rs565264162 0.00001
NM_001184.4(ATR):c.1011T>G (p.Leu337=)
NM_001184.4(ATR):c.1546A>G (p.Thr516Ala)
NM_001184.4(ATR):c.1620C>T (p.Tyr540=) rs763088062
NM_001184.4(ATR):c.1883_1884delinsCACAAG (p.Tyr628fs) rs2108477090
NM_001184.4(ATR):c.2409A>G (p.Lys803=) rs766396565
NM_001184.4(ATR):c.2831del (p.Ser944fs)
NM_001184.4(ATR):c.3227A>G (p.His1076Arg)
NM_001184.4(ATR):c.4671G>A (p.Lys1557=)
NM_001184.4(ATR):c.4672C>G (p.His1558Asp)
NM_001184.4(ATR):c.4712del (p.Ser1571fs)
NM_001184.4(ATR):c.4863G>A (p.Val1621=)
NM_001184.4(ATR):c.4891C>T (p.Arg1631Cys)
NM_001184.4(ATR):c.5078G>A (p.Ser1693Asn) rs1375119564
NM_001184.4(ATR):c.5739-11_5739-4del rs797045404
NM_001184.4(ATR):c.5899-8del rs538488507
NM_001184.4(ATR):c.6319+2T>C rs1577513795
NM_001184.4(ATR):c.6460G>A (p.Asp2154Asn)
NM_001184.4(ATR):c.6558_6562del (p.Tyr2187fs)
NM_001184.4(ATR):c.6687+2T>C rs2071168232
NM_001184.4(ATR):c.7347A>G (p.Ser2449=)
NM_001184.4(ATR):c.7543C>T (p.Leu2515=)
NM_001184.4(ATR):c.7761+2T>C rs1577488520
NM_001184.4(ATR):c.891G>A (p.Lys297=)
NM_001184.4(ATR):c.979_980del (p.Val327fs) rs773937499

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