ClinVar Miner

List of variants in gene ATM reported as uncertain significance for Breast and/or ovarian cancer

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Gene type:
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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala) rs587781812 0.00017
NM_000051.4(ATM):c.2887A>G (p.Met963Val) rs374353016 0.00015
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg) rs146017595 0.00014
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala) rs142455912 0.00014
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly) rs148705269 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.202A>G (p.Ile68Val) rs35389822 0.00004
NM_000051.4(ATM):c.2418G>T (p.Leu806Phe) rs587781296 0.00004
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) rs147122522 0.00004
NM_000051.4(ATM):c.2836A>G (p.Met946Val) rs587781992 0.00004
NM_000051.4(ATM):c.5278A>G (p.Met1760Val) rs151327241 0.00004
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe) rs370240037 0.00003
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys) rs878853492 0.00003
NM_000051.4(ATM):c.2396C>T (p.Ala799Val) rs199954262 0.00003
NM_000051.4(ATM):c.2519A>T (p.Asp840Val) rs786202605 0.00003
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00002
NM_000051.4(ATM):c.3577G>A (p.Val1193Ile) rs779148780 0.00002
NM_000051.4(ATM):c.1021G>A (p.Val341Ile) rs200601781 0.00001
NM_000051.4(ATM):c.1675A>G (p.Ile559Val) rs1060501545 0.00001
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys) rs546087885 0.00001
NM_000051.4(ATM):c.1898+3A>G rs200169643 0.00001
NM_000051.4(ATM):c.1899-10T>G rs763685190 0.00001
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys) rs528165789 0.00001
NM_000051.4(ATM):c.2062G>A (p.Glu688Lys) rs769338089 0.00001
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys) rs765965513 0.00001
NM_000051.4(ATM):c.2236T>C (p.Phe746Leu) rs1017383703 0.00001
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser) rs730881354 0.00001
NM_000051.4(ATM):c.4110-4T>C rs777186156 0.00001
NM_000051.4(ATM):c.4420C>G (p.His1474Asp) rs587779840 0.00001
NM_000051.4(ATM):c.4703A>G (p.His1568Arg) rs368830730 0.00001
NM_000051.4(ATM):c.4910-16A>T rs866500582 0.00001
NM_000051.4(ATM):c.5056A>G (p.Ile1686Val) rs145453814 0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr) rs199836342 0.00001
NM_000051.4(ATM):c.5080G>A (p.Ala1694Thr) rs756197350 0.00001
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr) rs773546064 0.00001
NM_000051.4(ATM):c.5524C>T (p.Leu1842Phe) rs956546711 0.00001
NM_000051.4(ATM):c.1079A>C (p.Asp360Ala) rs775767808
NM_000051.4(ATM):c.1166T>C (p.Ile389Thr) rs757486696
NM_000051.4(ATM):c.1354A>G (p.Thr452Ala) rs1324524747
NM_000051.4(ATM):c.137A>G (p.His46Arg) rs1591447177
NM_000051.4(ATM):c.1504G>A (p.Ala502Thr) rs2080112799
NM_000051.4(ATM):c.1642A>G (p.Thr548Ala) rs878853486
NM_000051.4(ATM):c.1703G>A (p.Arg568Lys) rs200381392
NM_000051.4(ATM):c.2033T>C (p.Ile678Thr) rs1485409783
NM_000051.4(ATM):c.2158C>T (p.Arg720Cys) rs565622131
NM_000051.4(ATM):c.2411T>G (p.Leu804Arg)
NM_000051.4(ATM):c.2926G>A (p.Val976Met) rs1178628574
NM_000051.4(ATM):c.3153+9T>C rs770464168
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.3226C>G (p.Gln1076Glu) rs2135571727
NM_000051.4(ATM):c.332-7G>T rs1591474291
NM_000051.4(ATM):c.3343C>T (p.Leu1115Phe) rs752339681
NM_000051.4(ATM):c.3993+6G>A rs878853508
NM_000051.4(ATM):c.399T>A (p.Asn133Lys) rs1555059218
NM_000051.4(ATM):c.4151A>T (p.His1384Leu)
NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser) rs786203761
NM_000051.4(ATM):c.4627A>G (p.Lys1543Glu)
NM_000051.4(ATM):c.4932G>C (p.Met1644Ile) rs730881371
NM_000051.4(ATM):c.508G>A (p.Val170Met) rs786202781
NM_000051.4(ATM):c.5178-7T>C rs1555105564
NM_000051.4(ATM):c.649_651dup (p.Ile217dup) rs1565369864
NM_000051.4(ATM):c.68G>A (p.Arg23Gln) rs587779858
NM_000051.4(ATM):c.974A>G (p.His325Arg) rs1565375244

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