ClinVar Miner

Variants with conflicting interpretations "benign" from Genetic Services Laboratory, University of Chicago and "uncertain significance" from any submitter

Minimum review status of the submission from Genetic Services Laboratory, University of Chicago: Collection method of the submission from Genetic Services Laboratory, University of Chicago:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 234
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06536
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His) rs8192556 0.01580
NM_006059.4(LAMC3):c.-2C>T rs137883250 0.01424
NM_018249.6(CDK5RAP2):c.880-7A>G rs76132121 0.01314
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=) rs117685875 0.01001
NM_000136.3(FANCC):c.-155A>C rs549658720 0.00998
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_018249.6(CDK5RAP2):c.307-4G>A rs7030969 0.00860
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=) rs34179337 0.00827
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399 0.00789
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_002113.3(CFHR1):c.790+1G>A rs140799744 0.00774
NM_030787.4(CFHR5):c.1704T>A (p.Cys568Ter) rs143140599 0.00764
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met) rs75099879 0.00758
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693 0.00730
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_000041.4(APOE):c.487C>T (p.Arg163Cys) rs769455 0.00701
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_017841.4(SDHAF2):c.*12C>T rs113652589 0.00617
NM_018249.6(CDK5RAP2):c.5454T>G (p.Ile1818Met) rs114128928 0.00612
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042 0.00575
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534 0.00573
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866 0.00549
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107 0.00545
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00541
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp) rs116535684 0.00539
NM_000439.5(PCSK1):c.397-10T>C rs142423997 0.00535
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser) rs41312157 0.00531
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=) rs112551069 0.00501
NM_001987.5(ETV6):c.602T>C (p.Leu201Pro) rs145477191 0.00501
NM_198576.4(AGRN):c.5201G>A (p.Arg1734His) rs145444272 0.00493
NM_001378778.1(MPDZ):c.3582T>G (p.Ser1194Arg) rs188840960 0.00490
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_006306.4(SMC1A):c.*14C>T rs112727682 0.00436
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) rs142993240 0.00430
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061 0.00404
NM_000251.3(MSH2):c.1662-9G>A rs17218356 0.00398
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=) rs150055592 0.00362
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys) rs114647348 0.00354
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) rs145110602 0.00343
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_000222.3(KIT):c.1383A>G (p.Thr461=) rs151016327 0.00324
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe) rs55849827 0.00322
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_012233.3(RAB3GAP1):c.2676G>T (p.Arg892Ser) rs144455066 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706 0.00304
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
NM_004364.5(CEBPA):c.402G>A (p.Ala134=) rs752254340 0.00295
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328 0.00280
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val) rs121917810 0.00274
NM_000314.8(PTEN):c.-165C>G rs575260016 0.00267
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=) rs61781316 0.00257
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_002435.3(MPI):c.303C>T (p.Leu101=) rs139228075 0.00240
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) rs149172723 0.00230
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr) rs11569541 0.00226
NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala) rs151105762 0.00218
NM_005475.3(SH2B3):c.770T>C (p.Ile257Thr) rs147341899 0.00192
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00179
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe) rs142007602 0.00161
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_001379110.1(SLC9A6):c.*8A>T rs200171451 0.00157
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623 0.00156
NM_000552.5(VWF):c.1728G>T (p.Met576Ile) rs150146744 0.00155
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) rs35155575 0.00151
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086 0.00146
NM_018341.3(ERMARD):c.1246G>A (p.Val416Ile) rs143351214 0.00145
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys) rs41304587 0.00141
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_000439.5(PCSK1):c.1197-9C>T rs200973203 0.00125
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter) rs144321381 0.00124
NM_003179.3(SYP):c.877G>A (p.Gly293Ser) rs139475570 0.00122
NM_001164508.2(NEB):c.12C>T (p.Asp4=) rs117178114 0.00119
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00097
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942 0.00096
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=) rs142126065 0.00095
NM_032977.4(CASP10):c.1502C>T (p.Pro501Leu) rs148939095 0.00091
NM_006005.3(WFS1):c.966C>T (p.His322=) rs140196582 0.00083
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_030787.4(CFHR5):c.432A>T (p.Lys144Asn) rs181511327 0.00076
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu) rs34521483 0.00070
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067 0.00058
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_006180.6(NTRK2):c.31G>T (p.Ala11Ser) rs78936193 0.00051
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035 0.00048
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=) rs201709328 0.00047
NM_005045.4(RELN):c.7114G>A (p.Val2372Met) rs114344654 0.00046
NM_002691.4(POLD1):c.653G>A (p.Arg218His) rs150010804 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_003482.4(KMT2D):c.6235-6C>G rs373858319 0.00040
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser) rs201922441 0.00040
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000222.3(KIT):c.821C>T (p.Thr274Met) rs138585275 0.00035
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile) rs34830702 0.00033
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00032
NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser) rs61745604 0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_002439.5(MSH3):c.356C>T (p.Ser119Phe) rs144607594 0.00028
NM_144997.7(FLCN):c.1149C>T (p.Leu383=) rs150752548 0.00028
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val) rs143396390 0.00027
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn) rs150613209 0.00026
NM_015450.3(POT1):c.1228G>C (p.Asp410His) rs79314063 0.00022
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284 0.00018
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478 0.00014
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln) rs140495790 0.00010
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val) rs398124386 0.00008
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=) rs143063879 0.00006
NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val) rs372271746 0.00005
NM_003001.5(SDHC):c.490A>T (p.Met164Leu) rs200375156 0.00004
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906 0.00004
NM_000426.4(LAMA2):c.5688C>T (p.His1896=) rs573779258 0.00003
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00002
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307 0.00002
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309 0.00001
NM_001267550.2(TTN):c.102963C>T (p.Asn34321=) rs528502993 0.00001
NM_001267550.2(TTN):c.57273C>T (p.Asp19091=) rs587780489 0.00001
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys) rs372838203 0.00001
NM_018136.5(ASPM):c.2195T>C (p.Leu732Ser) rs587783224 0.00001
NM_130839.5(UBE3A):c.176G>A (p.Arg59His) rs587784511 0.00001
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001083961.2(WDR62):c.269+12del rs797046108
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) rs141382970
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp) rs140854076
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001643.2(APOA2):c.53-43TG[17] rs17244502
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_003051.4(SLC16A1):c.362-58TATT[9] rs149491709
NM_005249.5(FOXG1):c.1086G>A (p.Leu362=) rs570981209
NM_018451.5(CENPJ):c.2992-17dup rs35599563
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=) rs4021006
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_181332.3(NLGN4X):c.115A>G (p.Ile39Val) rs201534650

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