ClinVar Miner

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

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106 0.00341
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748 0.00216
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_005732.4(RAD50):c.3165-8T>G rs369581851 0.00189
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_005732.4(RAD50):c.2091C>T (p.Val697=) rs61747588 0.00156
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_032043.3(BRIP1):c.195A>G (p.Gln65=) rs141436143 0.00076
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_032043.3(BRIP1):c.1935+11G>A rs79121306 0.00051
NM_058216.3(RAD51C):c.706-18T>C rs56401264 0.00047
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_058216.3(RAD51C):c.571+16A>G rs141621051 0.00034
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys) rs72550742 0.00030
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_032043.3(BRIP1):c.852C>T (p.Val284=) rs144940449 0.00021
NM_032043.3(BRIP1):c.36G>T (p.Gly12=) rs45566938 0.00019
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=) rs145796331 0.00017
NM_001113525.2(ZNF276):c.*1674G>C rs56216970 0.00016
NM_032043.3(BRIP1):c.595C>T (p.Leu199=) rs144969738 0.00014
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_002485.5(NBN):c.37+10G>C rs369408590 0.00011
NM_005732.4(RAD50):c.204C>T (p.His68=) rs28903084 0.00010
NM_032043.3(BRIP1):c.93+15G>A rs113052745 0.00009
NM_032043.3(BRIP1):c.1629-11T>C rs375710640 0.00007
NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=) rs369843642 0.00007
NM_000136.3(FANCC):c.1329+238C>T rs768988593 0.00006
NM_032043.3(BRIP1):c.1140+11G>A rs369153270 0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00006
NM_058216.3(RAD51C):c.336G>A (p.Gly112=) rs746122031 0.00006
NM_032043.3(BRIP1):c.297C>T (p.Asp99=) rs201617644 0.00004
NM_032043.3(BRIP1):c.3051G>A (p.Pro1017=) rs776990704 0.00004
NM_032043.3(BRIP1):c.312T>G (p.Thr104=) rs769190318 0.00003
NM_032043.3(BRIP1):c.702G>A (p.Lys234=) rs45512798 0.00003
NM_058216.3(RAD51C):c.706-13C>G rs747406535 0.00003
NM_002485.5(NBN):c.1124+37C>G rs577575764 0.00002
NM_002485.5(NBN):c.2184+8G>C rs730881842 0.00002
NM_058216.3(RAD51C):c.837+14A>G rs1057517644 0.00002
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) rs771604820 0.00001
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=) rs878853664 0.00001
NM_002485.5(NBN):c.37+7G>A rs372850559 0.00001
NM_002485.5(NBN):c.415A>G (p.Thr139Ala) rs543852763 0.00001
NM_002485.5(NBN):c.483A>G (p.Thr161=) rs758276775 0.00001
NM_005732.4(RAD50):c.1052-16del rs757412385 0.00001
NM_005732.4(RAD50):c.2923-7T>C rs1329253830 0.00001
NM_032043.2(BRIP1):c.2097+8A>C rs730881642 0.00001
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=) rs773489367 0.00001
NM_032043.3(BRIP1):c.1795-9T>G rs777006706 0.00001
NM_032043.3(BRIP1):c.612C>G (p.Ser204=) rs587780832 0.00001
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602 0.00001
NM_058216.3(RAD51C):c.234A>G (p.Thr78=) rs730881929 0.00001
NM_058216.3(RAD51C):c.905-7C>T rs757624360 0.00001
NM_000124.4(ERCC6):c.1062T>A (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1281C>T (p.Phe427=) rs267602508
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000136.3(FANCC):c.1329+181_1329+183del rs587778328
NM_000136.3(FANCC):c.1329+246del rs542091036
NM_000136.3(FANCC):c.1533+9C>T rs863224323
NM_002485.5(NBN):c.172-529G>A rs104895039
NM_002485.5(NBN):c.2235-12C>T rs1554553904
NM_002485.5(NBN):c.480+10A>G rs878854512
NM_002485.5(NBN):c.702+7A>G rs864622602
NM_002485.5(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_004628.5(XPC):c.1185G>A (p.Lys395=) rs886058051
NM_005732.4(RAD50):c.1246-11T>C rs746985455
NM_005732.4(RAD50):c.1246-8G>T rs776650264
NM_005732.4(RAD50):c.3164+14del rs148895884
NM_005732.4(RAD50):c.3164+22_3164+25dup rs536987915
NM_005732.4(RAD50):c.756+7del rs377720482
NM_032043.3(BRIP1):c.1629-500G>A rs1057517645
NM_032043.3(BRIP1):c.1935+5GTT[2] rs730881641
NM_032043.3(BRIP1):c.2576-17T>G rs1057517647
NM_032043.3(BRIP1):c.2991A>G (p.Thr997=) rs45466996
NM_032043.3(BRIP1):c.380-17dup rs545021924
NM_058216.3(RAD51C):c.146-15T>C rs1036386535
NM_058216.3(RAD51C):c.756A>G (p.Leu252=) rs863224437

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