ClinVar Miner

List of variants reported as uncertain significance by Cancer Genomics Group, Japanese Foundation For Cancer Research

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ClinVar version:
Total variants: 251
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_000314.8(PTEN):c.-475G>A rs889404566 0.00092
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_020937.4(FANCM):c.2996C>T (p.Pro999Leu) rs148304968 0.00044
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn) rs145309168 0.00041
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) rs146370443 0.00026
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630 0.00020
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser) rs550707862 0.00017
NM_020937.4(FANCM):c.4709G>A (p.Arg1570His) rs201803784 0.00016
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00016
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys) rs202171930 0.00014
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys) rs202145681 0.00013
NM_002485.5(NBN):c.505C>T (p.Arg169Cys) rs182756889 0.00011
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962 0.00010
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336 0.00009
NM_002878.4(RAD51D):c.196G>A (p.Val66Met) rs56026142 0.00009
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg) rs200017020 0.00009
NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe) rs199579239 0.00009
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His) rs200649225 0.00009
NM_000051.4(ATM):c.2771G>A (p.Arg924Gln) rs587782298 0.00008
NM_000051.4(ATM):c.6497T>C (p.Val2166Ala) rs1232551114 0.00008
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_000051.4(ATM):c.125A>G (p.His42Arg) rs201773026 0.00007
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp) rs147515380 0.00007
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210 0.00007
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys) rs4986984 0.00007
NM_000051.4(ATM):c.3614G>A (p.Arg1205His) rs769106895 0.00006
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu) rs139379666 0.00006
NM_000057.4(BLM):c.1044G>A (p.Met348Ile) rs184657475 0.00006
NM_000455.5(STK11):c.842C>T (p.Pro281Leu) rs121913322 0.00006
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val) rs587780039 0.00006
NM_000546.6(TP53):c.1015G>A (p.Glu339Lys) rs17882252 0.00006
NM_002907.4(RECQL):c.788C>T (p.Thr263Met) rs773948800 0.00006
NM_005591.4(MRE11):c.469A>G (p.Met157Val) rs147771140 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_020937.4(FANCM):c.5026G>A (p.Glu1676Lys) rs769919966 0.00006
NM_000051.4(ATM):c.659C>T (p.Ala220Val) rs145355104 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_005732.4(RAD50):c.3496C>T (p.Arg1166Trp) rs587782577 0.00005
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859 0.00004
NM_000465.4(BARD1):c.233G>A (p.Cys78Tyr) rs199780731 0.00004
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr) rs146223579 0.00004
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln) rs63751284 0.00004
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_004360.5(CDH1):c.377C>T (p.Pro126Leu) rs746703615 0.00004
NM_020937.4(FANCM):c.2311G>A (p.Glu771Lys) rs760204880 0.00004
NM_058216.3(RAD51C):c.635G>A (p.Arg212His) rs200857129 0.00004
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile) rs779145081 0.00003
NM_000057.4(BLM):c.3422A>G (p.Asn1141Ser) rs770370129 0.00003
NM_000057.4(BLM):c.4022C>T (p.Ala1341Val) rs201149857 0.00003
NM_000179.3(MSH6):c.532C>T (p.Arg178Cys) rs730881813 0.00003
NM_000249.4(MLH1):c.94A>G (p.Ile32Val) rs2020872 0.00003
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln) rs56170584 0.00003
NM_000455.5(STK11):c.566C>T (p.Thr189Ile) rs587781515 0.00003
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_001042492.3(NF1):c.4942A>G (p.Thr1648Ala) rs770558820 0.00003
NM_002907.4(RECQL):c.1361G>A (p.Arg454His) rs776939203 0.00003
NM_005591.4(MRE11):c.1508G>A (p.Arg503His) rs774057024 0.00003
NM_021930.6(RINT1):c.448A>C (p.Ser150Arg) rs780699445 0.00003
NM_021930.6(RINT1):c.814T>C (p.Cys272Arg) rs761066440 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 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_133510.4(RAD51B):c.203A>G (p.Tyr68Cys) rs773742806 0.00003
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00002
NM_000051.4(ATM):c.8120C>G (p.Ser2707Cys) rs748016261 0.00002
NM_000179.3(MSH6):c.728G>A (p.Arg243His) rs370157832 0.00002
NM_000465.4(BARD1):c.556A>G (p.Ser186Gly) rs16852741 0.00002
NM_000535.7(PMS2):c.598G>A (p.Val200Ile) rs587778620 0.00002
NM_001042492.3(NF1):c.4426C>T (p.Arg1476Cys) rs771420960 0.00002
NM_001321809.2(RAD51B):c.1037-8060A>T rs892904253 0.00002
NM_002907.4(RECQL):c.742G>A (p.Ala248Thr) rs202110155 0.00002
NM_004360.5(CDH1):c.1930G>A (p.Asp644Asn) rs587781696 0.00002
NM_005591.4(MRE11):c.572G>A (p.Arg191Gln) rs746932208 0.00002
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379 0.00002
NM_020937.4(FANCM):c.2444C>T (p.Ser815Leu) rs371688801 0.00002
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645 0.00002
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn) rs587781818 0.00002
NM_000051.4(ATM):c.1741T>G (p.Leu581Val) rs876659822 0.00001
NM_000051.4(ATM):c.2879C>A (p.Pro960His) rs587779828 0.00001
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg) rs527471560 0.00001
NM_000051.4(ATM):c.5435C>T (p.Ala1812Val) rs199885813 0.00001
NM_000051.4(ATM):c.5488A>G (p.Met1830Val) rs587781622 0.00001
NM_000057.4(BLM):c.137A>G (p.Asn46Ser) rs1237910576 0.00001
NM_000057.4(BLM):c.2744C>T (p.Ala915Val) rs775026151 0.00001
NM_000057.4(BLM):c.3485A>G (p.Asn1162Ser) rs1237460907 0.00001
NM_000057.4(BLM):c.3874G>A (p.Ala1292Thr) rs757641454 0.00001
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) rs63750065 0.00001
NM_000179.3(MSH6):c.1660C>T (p.Arg554Cys) rs775716798 0.00001
NM_000179.3(MSH6):c.233G>A (p.Arg78Lys) rs864622425 0.00001
NM_000249.4(MLH1):c.1744C>G (p.Leu582Val) rs63751713 0.00001
NM_000249.4(MLH1):c.283T>G (p.Ser95Ala) rs63751070 0.00001
NM_000249.4(MLH1):c.704A>T (p.Asp235Val) rs587781505 0.00001
NM_000251.3(MSH2):c.118G>A (p.Gly40Ser) rs63751260 0.00001
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile) rs63750790 0.00001
NM_000251.3(MSH2):c.2407A>G (p.Thr803Ala) rs63751168 0.00001
NM_000251.3(MSH2):c.266T>C (p.Val89Ala) rs876659747 0.00001
NM_000314.8(PTEN):c.-156C>G rs535471450 0.00001
NM_000465.4(BARD1):c.95G>T (p.Gly32Val) rs587782675 0.00001
NM_000535.7(PMS2):c.1798A>G (p.Met600Val) rs1304634005 0.00001
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn) rs876660093 0.00001
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp) rs773378630 0.00001
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln) rs786202030 0.00001
NM_002354.3(EPCAM):c.250C>T (p.Pro84Ser) rs139208605 0.00001
NM_002878.4(RAD51D):c.80C>A (p.Thr27Lys) rs139642328 0.00001
NM_002907.4(RECQL):c.1382A>G (p.His461Arg) rs201573409 0.00001
NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys) rs34507583 0.00001
NM_005591.4(MRE11):c.1715G>A (p.Arg572Gln) rs200085146 0.00001
NM_005591.4(MRE11):c.310A>T (p.Ser104Cys) rs748434421 0.00001
NM_005591.4(MRE11):c.463C>T (p.Arg155Cys) rs587782512 0.00001
NM_005732.4(RAD50):c.1924T>G (p.Leu642Val) rs201132221 0.00001
NM_005732.4(RAD50):c.2209C>G (p.Gln737Glu) rs549559726 0.00001
NM_005732.4(RAD50):c.2273A>G (p.Asn758Ser) rs147568421 0.00001
NM_005732.4(RAD50):c.2287C>T (p.Arg763Cys) rs369996457 0.00001
NM_005732.4(RAD50):c.3380C>T (p.Thr1127Ile) rs1395170959 0.00001
NM_005732.4(RAD50):c.353T>C (p.Ile118Thr) rs200472836 0.00001
NM_007194.4(CHEK2):c.1195G>A (p.Val399Ile) rs876658682 0.00001
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) rs763395924 0.00001
NM_007194.4(CHEK2):c.886G>T (p.Asp296Tyr) rs876659553 0.00001
NM_020937.4(FANCM):c.2696G>A (p.Arg899Lys) rs755241883 0.00001
NM_020937.4(FANCM):c.424C>T (p.Pro142Ser) rs771875070 0.00001
NM_020937.4(FANCM):c.4793A>G (p.Asp1598Gly) rs1405769485 0.00001
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099 0.00001
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His) rs45468199 0.00001
NM_032043.3(BRIP1):c.2569A>G (p.Ile857Val) rs28904918 0.00001
NM_032043.3(BRIP1):c.3505G>T (p.Asp1169Tyr) rs587782029 0.00001
NM_058216.3(RAD51C):c.406A>T (p.Met136Leu) rs587780254 0.00001
NM_133510.4(RAD51B):c.579A>C (p.Glu193Asp) rs371376587 0.00001
NM_133510.4(RAD51B):c.802G>C (p.Ala268Pro) rs758696568 0.00001
NM_000051.4(ATM):c.2056C>A (p.Leu686Ile) rs1335638362
NM_000051.4(ATM):c.3778G>A (p.Val1260Met) rs587782035
NM_000051.4(ATM):c.4313T>G (p.Ile1438Ser) rs1591663009
NM_000051.4(ATM):c.4931T>C (p.Met1644Thr) rs55843558
NM_000051.4(ATM):c.6303A>C (p.Gln2101His) rs876659325
NM_000051.4(ATM):c.686T>C (p.Leu229Pro) rs1591503381
NM_000051.4(ATM):c.6952A>C (p.Lys2318Gln) rs1449259481
NM_000051.4(ATM):c.7904C>G (p.Ala2635Gly) rs754002355
NM_000051.4(ATM):c.9142C>T (p.Leu3048Phe) rs876660534
NM_000057.4(BLM):c.1334C>T (p.Pro445Leu) rs1895952164
NM_000057.4(BLM):c.134A>G (p.Asn45Ser) rs1555418242
NM_000057.4(BLM):c.715G>C (p.Asp239His) rs200756519
NM_000057.4(BLM):c.719A>G (p.Asp240Gly) rs757324067
NM_000136.3(FANCC):c.1085G>T (p.Gly362Val) rs1246894660
NM_000136.3(FANCC):c.188G>T (p.Arg63Ile) rs1588350373
NM_000136.3(FANCC):c.532G>C (p.Glu178Gln) rs554302947
NM_000179.3(MSH6):c.1072G>A (p.Asp358Asn) rs772747395
NM_000179.3(MSH6):c.1138G>A (p.Asp380Asn) rs1064793521
NM_000179.3(MSH6):c.2226C>G (p.Asn742Lys) rs587781739
NM_000179.3(MSH6):c.2297A>T (p.His766Leu) rs1060502870
NM_000179.3(MSH6):c.230G>A (p.Arg77Gln) rs1039603215
NM_000179.3(MSH6):c.2549A>C (p.Tyr850Ser) rs63750389
NM_000179.3(MSH6):c.3143A>G (p.Gln1048Arg) rs1572730351
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.3(MSH6):c.3689C>G (p.Ala1230Gly) rs587782117
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000249.4(MLH1):c.1572G>C (p.Met524Ile) rs587779953
NM_000249.4(MLH1):c.163G>T (p.Gly55Cys) rs1064796005
NM_000249.4(MLH1):c.1855G>A (p.Ala619Thr) rs267607866
NM_000249.4(MLH1):c.1892A>T (p.Asp631Val) rs63750240
NM_000249.4(MLH1):c.29G>T (p.Arg10Leu) rs777971423
NM_000249.4(MLH1):c.790C>G (p.His264Asp) rs63751597
NM_000251.3(MSH2):c.1315C>G (p.Pro439Ala) rs786203116
NM_000251.3(MSH2):c.1501A>G (p.Arg501Gly) rs1666734097
NM_000251.3(MSH2):c.1638G>C (p.Lys546Asn) rs372350768
NM_000251.3(MSH2):c.1846C>T (p.Pro616Ser) rs587782627
NM_000251.3(MSH2):c.2209A>G (p.Arg737Gly) rs1573570754
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu) rs63750571
NM_000251.3(MSH2):c.448G>T (p.Val150Phe) rs1558459157
NM_000314.8(PTEN):c.-475G>T rs889404566
NM_000314.8(PTEN):c.859T>C (p.Ser287Pro) rs1554825526
NM_000314.8(PTEN):c.920A>G (p.Glu307Gly) rs1197734477
NM_000465.4(BARD1):c.128G>C (p.Arg43Pro) rs1060501305
NM_000465.4(BARD1):c.1309A>G (p.Ile437Val) rs764592698
NM_000465.4(BARD1):c.1819GTT[2] (p.Val609del) rs927014703
NM_000535.7(PMS2):c.1814T>C (p.Val605Ala) rs1782971083
NM_000535.7(PMS2):c.1937G>A (p.Arg646Lys) rs372341850
NM_000535.7(PMS2):c.732G>C (p.Gln244His) rs1390756677
NM_000546.6(TP53):c.145G>C (p.Asp49His) rs587780728
NM_000546.6(TP53):c.211C>T (p.Pro71Ser) rs1567556576
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.6(TP53):c.322G>A (p.Gly108Ser) rs587782461
NM_000546.6(TP53):c.605G>A (p.Arg202His) rs587778719
NM_001042492.3(NF1):c.1721+19_1721+21del rs762735676
NM_001042492.3(NF1):c.2027C>T (p.Thr676Ile) rs1294581001
NM_001042492.3(NF1):c.2098A>G (p.Thr700Ala) rs1555613801
NM_001042492.3(NF1):c.2351G>C (p.Trp784Ser) rs2067038047
NM_001042492.3(NF1):c.4004A>C (p.Asn1335Thr) rs1555617304
NM_001042492.3(NF1):c.5409T>G (p.Ile1803Met) rs2069379800
NM_001042492.3(NF1):c.7355G>A (p.Arg2452His) rs1555536122
NM_001042492.3(NF1):c.8407C>A (p.Pro2803Thr) rs779180729
NM_002354.3(EPCAM):c.388G>T (p.Asp130Tyr) rs1671356501
NM_002354.3(EPCAM):c.635T>G (p.Val212Gly) rs1001841016
NM_002485.5(NBN):c.160G>A (p.Val54Ile) rs1211487080
NM_002878.4(RAD51D):c.263+1551G>T rs780006577
NM_002878.4(RAD51D):c.904-2A>T rs1403784434
NM_002907.4(RECQL):c.1732C>T (p.Leu578Phe) rs777565272
NM_004360.5(CDH1):c.1634G>A (p.Arg545Gln) rs587780115
NM_004360.5(CDH1):c.2218C>T (p.Pro740Ser) rs773795943
NM_004360.5(CDH1):c.2371C>G (p.Leu791Val) rs786202598
NM_005431.2(XRCC2):c.730C>T (p.Gln244Ter) rs1064795954
NM_005591.4(MRE11):c.1567A>G (p.Met523Val) rs1555005493
NM_005591.4(MRE11):c.1657C>G (p.Gln553Glu) rs1945964376
NM_005591.4(MRE11):c.881T>C (p.Met294Thr) rs1591692940
NM_005591.4(MRE11):c.890A>G (p.His297Arg) rs762144883
NM_005732.4(RAD50):c.1831A>G (p.Ile611Val) rs138315079
NM_005732.4(RAD50):c.2603A>G (p.Asn868Ser) rs758941378
NM_005732.4(RAD50):c.3813_3815del (p.Glu1271del) rs776601293
NM_005732.4(RAD50):c.547A>G (p.Thr183Ala) rs1029393718
NM_007194.4(CHEK2):c.1265G>C (p.Ser422Thr) rs549755590
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr) rs587781960
NM_007194.4(CHEK2):c.319+3965C>T rs766676371
NM_007194.4(CHEK2):c.545C>G (p.Pro182Arg) rs372168051
NM_007194.4(CHEK2):c.683G>A (p.Ser228Asn) rs1601805361
NM_020937.4(FANCM):c.1025G>A (p.Arg342Lys) rs1886815609
NM_020937.4(FANCM):c.173T>G (p.Leu58Arg) rs1885482402
NM_020937.4(FANCM):c.3931C>T (p.Pro1311Ser) rs143997277
NM_020937.4(FANCM):c.4378A>C (p.Ile1460Leu) rs78211950
NM_020937.4(FANCM):c.4396T>A (p.Ser1466Thr) rs762757612
NM_020937.4(FANCM):c.4771T>A (p.Phe1591Ile) rs773152045
NM_020937.4(FANCM):c.4859AAG[2] (p.Glu1622del) rs765421461
NM_020937.4(FANCM):c.5068G>C (p.Val1690Leu) rs752352756
NM_020937.4(FANCM):c.5282C>T (p.Pro1761Leu) rs1395216158
NM_020937.4(FANCM):c.5306A>G (p.Gln1769Arg) rs1889621092
NM_020937.4(FANCM):c.5872G>T (p.Gly1958Cys) rs1441113303
NM_020937.4(FANCM):c.6008+1G>A rs984955481
NM_021930.6(RINT1):c.1246C>T (p.His416Tyr) rs1221027048
NM_021930.6(RINT1):c.202C>T (p.Leu68Phe) rs1790249927
NM_021930.6(RINT1):c.2036T>C (p.Val679Ala) rs1791671293
NM_021930.6(RINT1):c.311G>A (p.Arg104Gln) rs866948739
NM_024675.4(PALB2):c.25C>T (p.Leu9Phe) rs1060502744
NM_024675.4(PALB2):c.2891_2905del (p.Gly964_Ala968del) rs1966802547
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met) rs201657283
NM_032043.3(BRIP1):c.1114C>A (p.Leu372Ile) rs786202637
NM_032043.3(BRIP1):c.1427C>G (p.Thr476Ser) rs1567825164
NM_032043.3(BRIP1):c.2131A>G (p.Thr711Ala) rs760515227
NM_032043.3(BRIP1):c.2266C>T (p.Leu756Phe) rs2077009187
NM_032043.3(BRIP1):c.2301G>C (p.Glu767Asp) rs369434185
NM_032043.3(BRIP1):c.2531T>C (p.Leu844Pro) rs1555574776
NM_032043.3(BRIP1):c.3508C>G (p.Leu1170Val) rs587782552
NM_032043.3(BRIP1):c.650G>C (p.Cys217Ser) rs587782156
NM_032043.3(BRIP1):c.87G>T (p.Met29Ile) rs769585673
NM_058216.3(RAD51C):c.104C>G (p.Ala35Gly) rs1555592011
NM_058216.3(RAD51C):c.20G>C (p.Arg7Pro) rs892567748
NM_058216.3(RAD51C):c.68T>G (p.Val23Gly) rs2047807604
NM_139076.3(ABRAXAS1):c.1022C>T (p.Pro341Leu) rs1722173605
NM_139076.3(ABRAXAS1):c.176T>C (p.Ile59Thr) rs772825230
NM_139076.3(ABRAXAS1):c.643A>T (p.Ile215Leu) rs1578126311
NM_139076.3(ABRAXAS1):c.747A>T (p.Arg249Ser) rs1722231029

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