ClinVar Miner

List of variants reported as uncertain significance for DNA repair disease by Mendelics

Included ClinVar conditions (124):
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ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068 0.00859
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser) rs61760160 0.00056
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys) rs144614070 0.00038
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp) rs201926295 0.00036
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu) rs147492092 0.00036
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571 0.00034
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893 0.00027
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) rs148205441 0.00025
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201 0.00019
NM_032043.3(BRIP1):c.380-5A>G rs587782131 0.00019
NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala) rs56103026 0.00017
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val) rs140214637 0.00016
NM_002485.5(NBN):c.38-10T>A rs556807466 0.00015
NM_002485.5(NBN):c.266G>C (p.Arg89Pro) rs747315554 0.00014
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537 0.00014
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) rs61762969 0.00013
NM_020937.4(FANCM):c.5440G>A (p.Glu1814Lys) rs139074680 0.00013
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) rs146609069 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met) rs779261511 0.00010
NM_005431.2(XRCC2):c.229G>C (p.Glu77Gln) rs142527605 0.00010
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln) rs370346767 0.00009
NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile) rs377165815 0.00009
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247 0.00009
NM_002485.5(NBN):c.671G>A (p.Gly224Glu) rs199845467 0.00008
NM_000136.3(FANCC):c.843+5G>A rs369082921 0.00006
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) rs757790912 0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_032043.3(BRIP1):c.-22C>A rs377620948 0.00006
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg) rs546628836 0.00006
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met) rs149917017 0.00005
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly) rs147479204 0.00004
NM_002485.5(NBN):c.803C>T (p.Thr268Met) rs535602436 0.00004
NM_004629.2(FANCG):c.992C>G (p.Pro331Arg) rs765722724 0.00004
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731 0.00004
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079 0.00004
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala) rs372799558 0.00004
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala) rs202072866 0.00004
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) rs374836770 0.00003
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser) rs730881724 0.00003
NM_001113525.2(ZNF276):c.*354G>A rs370357192 0.00003
NM_002485.5(NBN):c.2060A>C (p.Lys687Thr) rs186371605 0.00003
NM_002485.5(NBN):c.2215C>G (p.Leu739Val) rs370058152 0.00003
NM_002485.5(NBN):c.80G>T (p.Gly27Val) rs755171159 0.00003
NM_005431.2(XRCC2):c.608C>T (p.Ser203Leu) rs143856570 0.00003
NM_021922.3(FANCE):c.1316G>T (p.Gly439Val) rs776298967 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986 0.00003
NM_032043.3(BRIP1):c.887A>G (p.Glu296Gly) rs878855158 0.00003
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val) rs199683722 0.00003
NM_002485.5(NBN):c.1591A>G (p.Ile531Val) rs587782330 0.00002
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys) rs766602873 0.00002
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn) rs730881856 0.00002
NM_002485.5(NBN):c.929T>C (p.Ile310Thr) rs753812768 0.00002
NM_005431.2(XRCC2):c.644G>A (p.Arg215Gln) rs762828701 0.00002
NM_032043.3(BRIP1):c.3191T>C (p.Phe1064Ser) rs916937983 0.00002
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn) rs587781923 0.00002
NM_032043.3(BRIP1):c.518G>A (p.Arg173His) rs761432927 0.00002
NM_032444.4(SLX4):c.4021A>G (p.Arg1341Gly) rs747230215 0.00002
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) rs886052487 0.00001
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815 0.00001
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu) rs749230615 0.00001
NM_000136.3(FANCC):c.871T>C (p.Phe291Leu) rs769649289 0.00001
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys) rs771078251 0.00001
NM_002485.5(NBN):c.119C>T (p.Ser40Leu) rs587781530 0.00001
NM_002485.5(NBN):c.1471G>A (p.Glu491Lys) rs776900339 0.00001
NM_002485.5(NBN):c.171+4T>C rs587782290 0.00001
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro) rs199657566 0.00001
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser) rs587780093 0.00001
NM_004628.5(XPC):c.706A>G (p.Ile236Val) rs750767012 0.00001
NM_005431.2(XRCC2):c.714G>C (p.Arg238Ser) rs534746330 0.00001
NM_005732.4(RAD50):c.1115A>G (p.Gln372Arg) rs375070140 0.00001
NM_032043.3(BRIP1):c.1473+6A>G rs587780827 0.00001
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val) rs142806416 0.00001
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu) rs587782679 0.00001
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile) rs786203224 0.00001
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile) rs149016505 0.00001
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser) rs587782734 0.00001
NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met) rs1046992728 0.00001
NM_032043.3(BRIP1):c.991A>T (p.Met331Leu) rs1380876424 0.00001
NM_032444.4(SLX4):c.2878A>T (p.Ser960Cys) rs772190416 0.00001
NM_058216.3(RAD51C):c.-2C>T rs876658796 0.00001
NM_058216.3(RAD51C):c.3G>A (p.Met1Ile) rs769053886 0.00001
NM_000123.4(ERCC5):c.1787C>G (p.Ala596Gly) rs1595383704
NM_000135.4(FANCA):c.4167G>T (p.Gln1389His) rs1598051449
NM_000135.4(FANCA):c.542C>A (p.Ala181Glu) rs17232246
NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu) rs1588070592
NM_000136.3(FANCC):c.1495C>T (p.Pro499Ser) rs1564641164
NM_000136.3(FANCC):c.1625G>A (p.Arg542Lys) rs1588008066
NM_000136.3(FANCC):c.202G>A (p.Gly68Ser) rs777111154
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg) rs1564720454
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del) rs766605179
NM_001033855.3(DCLRE1C):c.1691A>G (p.Glu564Gly) rs1588892169
NM_002485.5(NBN):c.1228A>G (p.Ser410Gly) rs1185542329
NM_002485.5(NBN):c.1417C>G (p.Gln473Glu) rs755805461
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly) rs730881864
NM_002485.5(NBN):c.2150C>T (p.Thr717Ile) rs1554555764
NM_002485.5(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.5(NBN):c.37+2dup rs876658183
NM_002485.5(NBN):c.517A>G (p.Lys173Glu) rs1563574056
NM_002485.5(NBN):c.806G>C (p.Cys269Ser) rs768822147
NM_002485.5(NBN):c.97A>G (p.Ile33Val) rs1563584435
NM_004628.5(XPC):c.90GGA[4] (p.Glu34del) rs750450365
NM_004629.2(FANCG):c.770G>A (p.Arg257His) rs372234656
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs) rs763401560
NM_005431.2(XRCC2):c.698A>T (p.Gln233Leu) rs946075316
NM_005431.2(XRCC2):c.794T>C (p.Leu265Ser) rs771671971
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_018062.4(FANCL):c.775+3A>G rs975755966
NM_018062.4(FANCL):c.778G>C (p.Val260Leu) rs1573514956
NM_020937.4(FANCM):c.3830A>G (p.Asn1277Ser) rs1594799862
NM_020937.4(FANCM):c.5353T>G (p.Leu1785Val) rs755563315
NM_032043.3(BRIP1):c.1000G>T (p.Ala334Ser) rs535414791
NM_032043.3(BRIP1):c.1014A>G (p.Glu338=) rs1490732516
NM_032043.3(BRIP1):c.1066C>G (p.Arg356Gly) rs730881633
NM_032043.3(BRIP1):c.1131A>G (p.Ile377Met) rs927733243
NM_032043.3(BRIP1):c.1336A>C (p.Ile446Leu) rs786203496
NM_032043.3(BRIP1):c.1341-3C>G rs864622597
NM_032043.3(BRIP1):c.1427C>G (p.Thr476Ser) rs1567825164
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.3(BRIP1):c.1919T>C (p.Ile640Thr) rs1567812341
NM_032043.3(BRIP1):c.1935+5G>A rs1209289625
NM_032043.3(BRIP1):c.2379+5G>C rs1567779316
NM_032043.3(BRIP1):c.2497A>G (p.Ile833Val) rs199831248
NM_032043.3(BRIP1):c.266C>G (p.Ala89Gly) rs1349422972
NM_032043.3(BRIP1):c.2876C>G (p.Pro959Arg) rs1567731036
NM_032043.3(BRIP1):c.2961A>C (p.Arg987Ser) rs1567729555
NM_032043.3(BRIP1):c.3148A>C (p.Thr1050Pro) rs1567728933
NM_032043.3(BRIP1):c.3275C>A (p.Pro1092Gln) rs587780830
NM_032043.3(BRIP1):c.3412G>A (p.Asp1138Asn) rs587780249
NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val) rs876659290
NM_032043.3(BRIP1):c.439T>C (p.Tyr147His) rs1567868580
NM_032043.3(BRIP1):c.629C>A (p.Pro210His) rs140097800
NM_032043.3(BRIP1):c.671G>C (p.Gly224Ala) rs990737815
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842
NM_032444.4(SLX4):c.1186C>G (p.Leu396Val) rs1596528058
NM_032444.4(SLX4):c.3607C>G (p.Pro1203Ala) rs745508761
NM_032444.4(SLX4):c.3830G>A (p.Ser1277Asn) rs1596520868
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_058216.3(RAD51C):c.16T>G (p.Phe6Val) rs749498443
NM_058216.3(RAD51C):c.912T>G (p.Ser304Arg) rs876659009

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