ClinVar Miner

List of variants reported as likely benign for DNA repair disease by Counsyl

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 156
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HGVS dbSNP
NM_000051.3(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.192A>G (p.Leu64=) rs587780616
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2220A>G (p.Ala740=) rs56353517
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2639-7T>C rs912886321
NM_000051.3(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2839-18_2839-17insT rs730881287
NM_000051.3(ATM):c.2919A>G (p.Leu973=) rs587779829
NM_000051.3(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.3(ATM):c.3336T>A (p.Pro1112=) rs758784434
NM_000051.3(ATM):c.3378A>G (p.Lys1126=) rs149182949
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3403-16_3403-15insA rs569564716
NM_000051.3(ATM):c.3577-6G>A rs56006345
NM_000051.3(ATM):c.370A>G (p.Ile124Val) rs148590073
NM_000051.3(ATM):c.4149G>A (p.Ser1383=) rs749180334
NM_000051.3(ATM):c.4236+8T>C rs765636697
NM_000051.3(ATM):c.4332G>A (p.Leu1444=) rs753570046
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4436+10A>G rs878853509
NM_000051.3(ATM):c.4437-9C>T rs766003804
NM_000051.3(ATM):c.4612-32_4612-30delCTT rs113149503
NM_000051.3(ATM):c.4626G>A (p.Leu1542=) rs786202784
NM_000051.3(ATM):c.4776+23_4776+25delCTA rs770860526
NM_000051.3(ATM):c.5005+14A>T rs374337879
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.5145G>A (p.Leu1715=) rs786202765
NM_000051.3(ATM):c.5178-11G>A rs200876654
NM_000051.3(ATM):c.5497-9A>G rs878853524
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5918+16A>G rs3092911
NM_000051.3(ATM):c.6007-10A>G rs373395916
NM_000051.3(ATM):c.6088A>G (p.Ile2030Val) rs145847315
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.6396A>G (p.Leu2132=) rs370537345
NM_000051.3(ATM):c.6888A>T (p.Ala2296=) rs200735689
NM_000051.3(ATM):c.7131T>C (p.Asp2377=) rs373309822
NM_000051.3(ATM):c.735C>T (p.Val245=) rs3218674
NM_000051.3(ATM):c.7494T>C (p.Ser2498=) rs34393781
NM_000051.3(ATM):c.7515+20A>G rs80124497
NM_000051.3(ATM):c.7785T>C (p.Asp2595=) rs34838175
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.8010+185_8010+186delCC rs984385407
NM_000051.3(ATM):c.8100A>G (p.Lys2700=) rs778601472
NM_000051.3(ATM):c.8584+10T>C rs373321041
NM_000051.3(ATM):c.8629T>C (p.Leu2877=) rs730881279
NM_000051.3(ATM):c.8987+10A>G rs1060504308
NM_000057.3(BLM):c.204C>A (p.Thr68=) rs199927688
NM_000057.3(BLM):c.3128C>A (p.Ala1043Asp) rs2229035
NM_000057.3(BLM):c.4122C>T (p.Ser1374=) rs145277875
NM_000057.3(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000124.3(ERCC6):c.1062T>A (p.Pro354=) rs764159237
NM_000124.3(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.3(ERCC6):c.1281C>T (p.Phe427=) rs267602508
NM_000124.3(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.3(ERCC6):c.3453A>G (p.Leu1151=) rs771604820
NM_000124.3(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000135.2(FANCA):c.2216C>T (p.Pro739Leu) rs45441106
NM_000135.2(FANCA):c.3357C>T (p.Phe1119=) rs878853664
NM_000135.2(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.3(FANCA):c.3934+74C>G rs56216970
NM_000136.2(FANCC):c.1329+181_1329+183delCCT rs587778328
NM_000136.2(FANCC):c.1329+238C>T rs768988593
NM_000136.2(FANCC):c.1329+246delC rs542091036
NM_000136.2(FANCC):c.1533+9C>T rs863224323
NM_000136.2(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_002485.4(NBN):c.1124+37C>G rs577575764
NM_002485.4(NBN):c.1222A>G (p.Lys408Glu) rs34120922
NM_002485.4(NBN):c.1690G>A (p.Glu564Lys) rs72550742
NM_002485.4(NBN):c.172-529G>A rs104895039
NM_002485.4(NBN):c.1720T>A (p.Leu574Ile) rs142334798
NM_002485.4(NBN):c.1914+10G>A rs577706448
NM_002485.4(NBN):c.2184+8G>C rs730881842
NM_002485.4(NBN):c.2235-12C>T rs1554553904
NM_002485.4(NBN):c.37+10G>C rs369408590
NM_002485.4(NBN):c.37+7G>A rs372850559
NM_002485.4(NBN):c.415A>G (p.Thr139Ala) rs543852763
NM_002485.4(NBN):c.480+10A>G rs878854512
NM_002485.4(NBN):c.483A>G (p.Thr161=) rs758276775
NM_002485.4(NBN):c.702+7A>G rs864622602
NM_002485.4(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_004628.4(XPC):c.1185G>A (p.Lys395=) rs886058051
NM_005591.3(MRE11):c.121G>A (p.Asp41Asn) rs116679717
NM_005591.3(MRE11):c.1226-5T>C rs1555009952
NM_005591.3(MRE11):c.1475C>A (p.Ala492Asp) rs61749249
NM_005591.3(MRE11):c.1491C>T (p.Ile497=) rs199634245
NM_005591.3(MRE11):c.2070+14A>C rs369127675
NM_005591.3(MRE11):c.426C>T (p.Asp142=) rs3218740
NM_005591.3(MRE11):c.822T>C (p.Leu274=) rs137868143
NM_005591.3(MRE11):c.845+11T>C rs140145979
NM_005591.3(MRE11):c.969A>G (p.Pro323=) rs13447633
NM_005732.3(RAD50):c.1052-16delA rs757412385
NM_005732.3(RAD50):c.1246-11T>C rs746985455
NM_005732.3(RAD50):c.1246-8G>T rs776650264
NM_005732.3(RAD50):c.204C>T (p.His68=) rs28903084
NM_005732.3(RAD50):c.2091C>T (p.Val697=) rs61747588
NM_005732.3(RAD50):c.2670G>A (p.Gln890=) rs112241748
NM_005732.3(RAD50):c.280A>C (p.Ile94Leu) rs28903085
NM_005732.3(RAD50):c.2923-7T>C rs1329253830
NM_005732.3(RAD50):c.3164+14delA rs148895884
NM_005732.3(RAD50):c.3164+22_3164+25dupCAGT rs536987915
NM_005732.3(RAD50):c.3165-8T>G rs369581851
NM_005732.3(RAD50):c.3879C>T (p.Ile1293=) rs28903094
NM_005732.3(RAD50):c.756+7delT rs377720482
NM_032043.2(BRIP1):c.1140+11G>A rs369153270
NM_032043.2(BRIP1):c.1455T>C (p.Ala485=) rs773489367
NM_032043.2(BRIP1):c.1629-11T>C rs375710640
NM_032043.2(BRIP1):c.1629-500G>A rs1057517645
NM_032043.2(BRIP1):c.1795-9T>G rs777006706
NM_032043.2(BRIP1):c.1890A>G (p.Thr630=) rs145796331
NM_032043.2(BRIP1):c.1935+11G>A rs79121306
NM_032043.2(BRIP1):c.1935+11_1935+13delGTT rs730881641
NM_032043.2(BRIP1):c.195A>G (p.Gln65=) rs141436143
NM_032043.2(BRIP1):c.2061G>C (p.Val687=) rs112414873
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.2097+8A>C rs730881642
NM_032043.2(BRIP1):c.2232C>T (p.Asp744=) rs374362388
NM_032043.2(BRIP1):c.2286T>C (p.Arg762=) rs61754141
NM_032043.2(BRIP1):c.2576-17T>G rs1057517647
NM_032043.2(BRIP1):c.2937A>G (p.Lys979=) rs75091137
NM_032043.2(BRIP1):c.297C>T (p.Asp99=) rs201617644
NM_032043.2(BRIP1):c.2991A>G (p.Thr997=) rs45466996
NM_032043.2(BRIP1):c.3051G>A (p.Pro1017=) rs776990704
NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=) rs202228407
NM_032043.2(BRIP1):c.312T>G (p.Thr104=) rs769190318
NM_032043.2(BRIP1):c.3336T>C (p.Asp1112=) rs369843642
NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=) rs4987050
NM_032043.2(BRIP1):c.36G>T (p.Gly12=) rs45566938
NM_032043.2(BRIP1):c.380-17dupT rs545021924
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro) rs4988347
NM_032043.2(BRIP1):c.595C>T (p.Leu199=) rs144969738
NM_032043.2(BRIP1):c.612C>G (p.Ser204=) rs587780832
NM_032043.2(BRIP1):c.702G>A (p.Lys234=) rs45512798
NM_032043.2(BRIP1):c.790C>T (p.Arg264Trp) rs28997569
NM_032043.2(BRIP1):c.852C>T (p.Val284=) rs144940449
NM_032043.2(BRIP1):c.890A>G (p.Lys297Arg) rs28997570
NM_032043.2(BRIP1):c.93+15G>A rs113052745
NM_058216.2(RAD51C):c.141C>T (p.Ser47=) rs568912602
NM_058216.2(RAD51C):c.145+12T>G rs377297129
NM_058216.2(RAD51C):c.146-15T>C rs1036386535
NM_058216.2(RAD51C):c.234A>G (p.Thr78=) rs730881929
NM_058216.2(RAD51C):c.336G>A (p.Gly112=) rs746122031
NM_058216.2(RAD51C):c.376G>A (p.Ala126Thr) rs61758784
NM_058216.2(RAD51C):c.571+16A>G rs141621051
NM_058216.2(RAD51C):c.706-13C>G rs747406535
NM_058216.2(RAD51C):c.706-18T>C rs56401264
NM_058216.2(RAD51C):c.756A>G (p.Leu252=) rs863224437
NM_058216.2(RAD51C):c.790G>A (p.Gly264Ser) rs147241704
NM_058216.2(RAD51C):c.837+14A>G rs1057517644
NM_058216.2(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_058216.2(RAD51C):c.905-7C>T rs757624360

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