ClinVar Miner

List of variants reported as uncertain significance for adenocarcinoma by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (109):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 180
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 0.00060
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_000179.3(MSH6):c.3438+11_3438+14del rs377746844 0.00023
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=) rs202240122 0.00017
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr) rs115193764 0.00015
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr) rs55854959 0.00014
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_002691.4(POLD1):c.371T>C (p.Val124Ala) rs199993010 0.00013
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494 0.00012
NM_006231.4(POLE):c.6274G>A (p.Gly2092Ser) rs757559474 0.00012
NM_006231.4(POLE):c.6674G>A (p.Arg2225His) rs538875477 0.00012
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His) rs147754007 0.00010
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr) rs28363307 0.00010
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212 0.00009
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_020762.4(SRGAP1):c.182C>T (p.Thr61Met) rs778174499 0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000179.3(MSH6):c.1474A>G (p.Met492Val) rs61754783 0.00008
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His) rs144111588 0.00008
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp) rs373766973 0.00007
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn) rs538230198 0.00006
NM_004360.5(CDH1):c.1241C>A (p.Thr414Asn) rs755571454 0.00006
NM_006231.4(POLE):c.6716C>T (p.Ala2239Val) rs190813054 0.00006
NM_000179.3(MSH6):c.147C>T (p.Ala49=) rs768803986 0.00005
NM_000455.5(STK11):c.465-5C>T rs567202367 0.00005
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031 0.00004
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe) rs372418435 0.00004
NM_000051.4(ATM):c.202A>G (p.Ile68Val) rs35389822 0.00004
NM_000051.4(ATM):c.2836A>G (p.Met946Val) rs587781992 0.00004
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00004
NM_000546.6(TP53):c.1149C>T (p.Leu383=) rs373710656 0.00004
NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala) rs375597447 0.00004
NM_006231.4(POLE):c.155G>A (p.Arg52Gln) rs372459649 0.00004
NM_000038.6(APC):c.1904G>C (p.Gly635Ala) rs730881239 0.00003
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867 0.00003
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965 0.00003
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala) rs63750797 0.00003
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile) rs36087757 0.00003
NM_000179.3(MSH6):c.2889C>T (p.Gly963=) rs771726914 0.00002
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met) rs63750836 0.00002
NM_000179.3(MSH6):c.628-8C>T rs767991179 0.00002
NM_000251.3(MSH2):c.1014A>C (p.Gly338=) rs774083607 0.00002
NM_000251.3(MSH2):c.2178G>C (p.Met726Ile) rs587782396 0.00002
NM_002691.4(POLD1):c.1138-3C>T rs200072694 0.00002
NM_002691.4(POLD1):c.2045G>A (p.Arg682Gln) rs773665739 0.00002
NM_002691.4(POLD1):c.3136G>T (p.Ala1046Ser) rs751088347 0.00002
NM_004360.5(CDH1):c.1610C>T (p.Pro537Leu) rs730881667 0.00002
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln) rs587780117 0.00002
NM_006231.4(POLE):c.1852G>A (p.Glu618Lys) rs1377657524 0.00002
NM_006231.4(POLE):c.3614C>T (p.Pro1205Leu) rs772686048 0.00002
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp) rs771980261 0.00002
NM_000038.6(APC):c.1121G>A (p.Arg374Gln) rs141582813 0.00001
NM_000038.6(APC):c.1958+5A>G rs762899641 0.00001
NM_000038.6(APC):c.2105G>A (p.Gly702Glu) rs876658289 0.00001
NM_000038.6(APC):c.262C>T (p.Arg88Trp) rs746592911 0.00001
NM_000038.6(APC):c.2909G>A (p.Ser970Asn) rs767473403 0.00001
NM_000038.6(APC):c.3415A>C (p.Lys1139Gln) rs201550951 0.00001
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys) rs587779796 0.00001
NM_000038.6(APC):c.5194A>G (p.Met1732Val) rs752065261 0.00001
NM_000038.6(APC):c.7508G>A (p.Gly2503Glu) rs750111908 0.00001
NM_000179.3(MSH6):c.2926C>T (p.Arg976Cys) rs587782386 0.00001
NM_000179.3(MSH6):c.3172+14C>T rs762990595 0.00001
NM_000249.4(MLH1):c.116+14C>G rs773103242 0.00001
NM_000249.4(MLH1):c.1652A>G (p.Asn551Ser) rs63750271 0.00001
NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln) rs199744440 0.00001
NM_000251.3(MSH2):c.2132G>A (p.Arg711Gln) rs138465383 0.00001
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu) rs730881772 0.00001
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp) rs587779162 0.00001
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg) rs558707786 0.00001
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln) rs755653922 0.00001
NM_002878.4(RAD51D):c.716G>A (p.Arg239Gln) rs780921112 0.00001
NM_006231.4(POLE):c.4560C>G (p.Ser1520Arg) rs2042187560 0.00001
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp) rs587780190 0.00001
NM_024675.4(PALB2):c.1720T>C (p.Ser574Pro) rs1214293842 0.00001
NM_024675.4(PALB2):c.2750T>C (p.Val917Ala) rs763645981 0.00001
NM_000038.6(APC):c.1374T>C (p.Phe458=) rs2149792451
NM_000038.6(APC):c.1592C>G (p.Ala531Gly) rs755879124
NM_000038.6(APC):c.1744-4C>G rs772745309
NM_000038.6(APC):c.1904G>A (p.Gly635Glu) rs730881239
NM_000038.6(APC):c.1993_1994del (p.Leu665fs) rs1580617349
NM_000038.6(APC):c.220+3A>G rs1554069573
NM_000038.6(APC):c.2789C>T (p.Thr930Ile) rs1580627038
NM_000038.6(APC):c.2819C>T (p.Ser940Leu) rs544709767
NM_000038.6(APC):c.3067dup (p.Thr1023fs) rs876658724
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr) rs1114167603
NM_000038.6(APC):c.4138A>G (p.Thr1380Ala) rs2149907365
NM_000038.6(APC):c.4142C>G (p.Pro1381Arg) rs2149907480
NM_000038.6(APC):c.423-8A>G rs2149614206
NM_000038.6(APC):c.4261A>G (p.Ser1421Gly) rs1303200783
NM_000038.6(APC):c.52A>G (p.Met18Val) rs587782402
NM_000038.6(APC):c.5931A>G (p.Gln1977=) rs975299630
NM_000038.6(APC):c.6271G>A (p.Gly2091Ser) rs745308565
NM_000038.6(APC):c.6830C>G (p.Ser2277Cys) rs1554087778
NM_000038.6(APC):c.7838G>A (p.Arg2613Lys) rs1554088693
NM_000038.6(APC):c.7869A>G (p.Thr2623=) rs775126492
NM_000038.6(APC):c.7879T>A (p.Ser2627Thr) rs1580687626
NM_000038.6(APC):c.7942G>T (p.Ala2648Ser) rs1195417407
NM_000051.4(ATM):c.6453-5A>G rs755177899
NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly) rs2091262473
NM_000059.4(BRCA2):c.8488-15A>G rs775192142
NM_000179.3(MSH6):c.1196C>T (p.Pro399Leu) rs878853701
NM_000179.3(MSH6):c.1553C>A (p.Thr518Asn) rs1553412945
NM_000179.3(MSH6):c.1600A>G (p.Asn534Asp) rs1669350157
NM_000179.3(MSH6):c.1667A>G (p.Tyr556Cys) rs63751312
NM_000179.3(MSH6):c.167G>T (p.Gly56Val) rs1572698275
NM_000179.3(MSH6):c.1712G>A (p.Gly571Asp) rs863224618
NM_000179.3(MSH6):c.1750A>C (p.Thr584Pro) rs1553413123
NM_000179.3(MSH6):c.1996T>C (p.Ser666Pro) rs587779222
NM_000179.3(MSH6):c.2108T>C (p.Met703Thr) rs1064793189
NM_000179.3(MSH6):c.2905T>C (p.Tyr969His) rs1348956744
NM_000179.3(MSH6):c.2936T>C (p.Leu979Pro) rs1218426245
NM_000179.3(MSH6):c.2989A>G (p.Lys997Glu) rs1064794943
NM_000179.3(MSH6):c.3079G>C (p.Val1027Leu) rs876658397
NM_000179.3(MSH6):c.3151_3152dup (p.Val1051_Glu1052insTer) rs1175196087
NM_000179.3(MSH6):c.3172G>C (p.Asp1058His) rs863225404
NM_000179.3(MSH6):c.3801+3A>G rs753049136
NM_000179.3(MSH6):c.3946G>A (p.Gly1316Arg) rs773675555
NM_000179.3(MSH6):c.3971AGA[1] (p.Lys1325del) rs587779300
NM_000179.3(MSH6):c.513A>G (p.Glu171=) rs786201116
NM_000179.3(MSH6):c.818G>A (p.Gly273Glu) rs769610487
NM_000249.4(MLH1):c.1039-8_1039-7insTTTA rs535965616
NM_000249.4(MLH1):c.1504A>G (p.Asn502Asp) rs2125902825
NM_000249.4(MLH1):c.1572G>C (p.Met524Ile) rs587779953
NM_000249.4(MLH1):c.1668-3C>A rs267607844
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser) rs587781796
NM_000249.4(MLH1):c.1816G>C (p.Gly606Arg) rs2125985111
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser) rs587778972
NM_000249.4(MLH1):c.292_293delinsTT (p.Gly98Phe) rs1553640314
NM_000249.4(MLH1):c.293G>A (p.Gly98Asp) rs863225382
NM_000249.4(MLH1):c.696_698del (p.Cys233del) rs1575480253
NM_000249.4(MLH1):c.908T>G (p.Val303Gly) rs267607813
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg) rs63751004
NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg) rs773177076
NM_000251.3(MSH2):c.1413A>C (p.Lys471Asn) rs745874745
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro) rs1553368561
NM_000251.3(MSH2):c.1825G>C (p.Ala609Pro) rs150980616
NM_000251.3(MSH2):c.1937A>G (p.Asp646Gly) rs41295290
NM_000251.3(MSH2):c.2006-12T>G rs2104367663
NM_000251.3(MSH2):c.2027C>T (p.Ser676Leu) rs1057520735
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.3(MSH2):c.212-1_366+1dup rs2103975062
NM_000251.3(MSH2):c.2266_2267insAGA (p.Ser755_Thr756insLys) rs1553369686
NM_000251.3(MSH2):c.2498T>A (p.Leu833His) rs1573578539
NM_000251.3(MSH2):c.2630G>A (p.Arg877Lys) rs1573579234
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met) rs587779969
NM_000251.3(MSH2):c.648_650del (p.Ile217del) rs1553351554
NM_000535.7(PMS2):c.164-4C>A rs876658444
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys) rs63750534
NM_000535.7(PMS2):c.2090T>C (p.Ile697Thr) rs1583299036
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn) rs1394474494
NM_000535.7(PMS2):c.933C>G (p.His311Gln) rs1057521069
NM_000535.7(PMS2):c.94G>T (p.Val32Leu) rs977251189
NM_000546.6(TP53):c.892G>A (p.Glu298Lys) rs201744589
NM_001048174.2(MUTYH):c.806G>T (p.Cys269Phe) rs879254257
NM_001128425.2(MUTYH):c.37G>A (p.Ala13Thr) rs375349172
NM_002691.4(POLD1):c.-1-12C>T rs778338383
NM_004329.3(BMPR1A):c.712C>T (p.Arg238Trp) rs747728399
NM_004360.5(CDH1):c.1630A>G (p.Thr544Ala) rs786202107
NM_004360.5(CDH1):c.2327T>C (p.Leu776Pro) rs2152142271
NM_004360.5(CDH1):c.49-9C>A rs1555509752
NM_004360.5(CDH1):c.677C>T (p.Ala226Val) rs1555515292
NM_006231.4(POLE):c.2865-5_2865-4del rs369732588
NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr) rs483353090
NM_024675.4(PALB2):c.2999G>A (p.Gly1000Asp) rs1597079946
NM_024675.4(PALB2):c.941A>G (p.Gln314Arg) rs2142430398
NM_058216.3(RAD51C):c.146-4_146-2del rs1555593450

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