ClinVar Miner

List of variants studied for colonic neoplasm

Included ClinVar conditions (9):
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ClinVar version:
Total variants: 163
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HGVS dbSNP
NC_000003.11:g.37035001_37041000del
NM_000038.6(APC):c.10G>C (p.Ala4Pro) rs774219012
NM_000038.6(APC):c.1463T>C (p.Leu488Pro) rs368434773
NM_000038.6(APC):c.1803G>C (p.Glu601Asp) rs1447250546
NM_000038.6(APC):c.2986A>G (p.Ser996Gly) rs1554084628
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082
NM_000038.6(APC):c.3381G>C (p.Gln1127His) rs1554084977
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.6(APC):c.3716G>A (p.Arg1239Lys) rs754067085
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) rs121913327
NM_000038.6(APC):c.4901del (p.Pro1634fs) rs1057518901
NM_000038.6(APC):c.5026_5028del (p.Arg1676del) rs768369050
NM_000038.6(APC):c.5267C>T (p.Ser1756Phe) rs773178712
NM_000038.6(APC):c.5478G>C (p.Lys1826Asn) rs768922376
NM_000038.6(APC):c.6553A>G (p.Ser2185Gly) rs1060503292
NM_000038.6(APC):c.6893C>T (p.Ala2298Val) rs1554087829
NM_000038.6(APC):c.6994G>A (p.Gly2332Ser) rs1389311736
NM_000038.6(APC):c.7172T>G (p.Ile2391Ser) rs747797803
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile) rs587778037
NM_000059.3(BRCA2):c.4963del (p.Tyr1655fs) rs886040557
NM_000059.3(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340
NM_000136.3(FANCC):c.595dup (p.Leu199fs) rs1057519366
NM_000142.4(FGFR3):c.850del (p.His284fs) rs587776836
NM_000142.4(FGFR3):c.964G>A (p.Glu322Lys) rs121913111
NM_000179.2(MSH6):c.1808dup (p.Glu604fs) rs1553413200
NM_000249.3(MLH1):c.1334_1335AG[1] (p.Ser446fs) rs1114167435
NM_000249.3(MLH1):c.1667+1G>A rs1434898623
NM_000249.3(MLH1):c.497dup (p.Leu166fs) rs587779018
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.3(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.3(MLH1):c.887T>G (p.Leu296Ter) rs63750547
NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.2(MSH2):c.1457_1460delATGA rs1114167806
NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.2(MSH2):c.892C>T (p.Gln298Ter) rs63750934
NM_000251.3(MSH2):c.2382del (p.Pro795fs)
NM_000465.4(BARD1):c.1217G>A (p.Arg406Gln) rs587780014
NM_000465.4(BARD1):c.1918C>A (p.Leu640Ile) rs1553612535
NM_000535.7(PMS2):c.1053del (p.Leu351fs) rs1554298756
NM_000546.5(TP53):c.1060C>A (p.Gln354Lys) rs755394212
NM_000546.5(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.5(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_001040108.1(MLH3):c.2482G>T (p.Glu828Ter) rs587776622
NM_001048171.1(MUTYH):c.1129C>T (p.Gln377Ter) rs587783057
NM_001048171.1(MUTYH):c.1145-2A>G rs587781628
NM_001048171.1(MUTYH):c.1172C>T (p.Pro391Leu) rs529008617
NM_001048171.1(MUTYH):c.1378C>T (p.Arg460Cys) rs200229669
NM_001048171.1(MUTYH):c.697C>T (p.Arg233Ter) rs587782885
NM_001048171.1(MUTYH):c.972G>C (p.Gln324His) rs3219489
NM_001085377.2(MCC):c.2087G>A (p.Arg696Gln) rs121917732
NM_001085377.2(MCC):c.2663C>T (p.Ala888Val) rs121917731
NM_001128425.1(MUTYH):c.1090C>T (p.Arg364Cys) rs151316420
NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter) rs587780088
NM_001128425.1(MUTYH):c.933+3A>C rs587780751
NM_001167617.2(MLH1):c.942_943CA[1] (p.Thr315fs) rs1553651073
NM_001167618.2(MLH1):c.-221dup rs63749959
NM_001211.5(BUB1B):c.119C>T (p.Thr40Met) rs56079734
NM_001256849.1(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_001256849.1(POLD1):c.433G>A (p.Ala145Thr) rs137953986
NM_001281492.1(MSH6):c.3678_3681dup (p.Lys1228delinsAspTer) rs55740729
NM_001330615.1(PPARG):c.735+10744A>C rs121909242
NM_001330615.1(PPARG):c.735+10750G>A rs28936407
NM_001330615.1(PPARG):c.735+10842A>T rs121909243
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001429.4(EP300):c.6662C>A (p.Pro2221Gln) rs28937578
NM_001904.4(CTNNB1):c.133_135del (p.Ser45del) rs587776850
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_001982.3(ERBB3):c.850G>A (p.Gly284Arg) rs1057519803
NM_002019.4(FLT1):c.2439_2466del (p.Tyr815fs) rs796052115
NM_002019.4(FLT1):c.2654_2655insA (p.Gly886fs) rs555490448
NM_002019.4(FLT1):c.2708-29A>C rs558381447
NM_002019.4(FLT1):c.2708-39G>C rs537105078
NM_002019.4(FLT1):c.2871A>T (p.Leu957=) rs148695719
NM_002019.4(FLT1):c.2901G>A (p.Ala967=) rs56314249
NM_002019.4(FLT1):c.3042_3043insA (p.Ser1015fs) rs573848371
NM_002019.4(FLT1):c.3175-69A>T rs576912997
NM_002019.4(FLT1):c.3204T>C (p.Pro1068=) rs2296189
NM_002019.4(FLT1):c.3287-16A>C rs537403174
NM_002019.4(FLT1):c.3329G>C (p.Cys1110Ser) rs730882263
NM_002253.3(KDR):c.2380G>A (p.Gly794Arg) rs795902896
NM_002253.3(KDR):c.2509+20T>A rs795902897
NM_002253.3(KDR):c.2510-27del rs795902898
NM_002253.3(KDR):c.2544G>T (p.Val848=) rs795902899
NM_002253.3(KDR):c.2598A>C (p.Ala866=) rs795939486
NM_002253.3(KDR):c.2615-23C>T rs778886056
NM_002253.3(KDR):c.2656C>A (p.Leu886Ile) rs794729676
NM_002253.3(KDR):c.2676T>A (p.Ile892=) rs794729677
NM_002253.3(KDR):c.2705T>A (p.Leu902Gln) rs794729678
NM_002253.3(KDR):c.2721G>C (p.Lys907Asn) rs200773668
NM_002253.3(KDR):c.3405-4C>T rs370501217
NM_002253.3(KDR):c.3441C>G (p.Pro1147=) rs795939487
NM_002253.3(KDR):c.3465G>A (p.Glu1155=) rs795939488
NM_002253.3(KDR):c.3487C>T (p.Leu1163Phe) rs761176323
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002835.4(PTPN12):c.182A>G (p.Lys61Arg) rs121434623
NM_002843.4(PTPRJ):c.640C>T (p.Arg214Cys) rs121434507
NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro) rs1566734
NM_002912.4(REV3L):c.559A>T (p.Arg187Trp) rs1057519367
NM_003579.4(RAD54L):c.188C>A (p.Pro63His) rs121908688
NM_003921.5(BCL10):c.136dup (p.Ile46fs) rs387906351
NM_004333.6(BRAF):c.1385G>T (p.Arg462Ile) rs180177032
NM_004333.6(BRAF):c.1388T>G (p.Ile463Ser) rs180177033
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1799_1800delinsAA (p.Val600Glu) rs121913377
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_004336.5(BUB1):c.1475C>A (p.Ser492Tyr) rs121909055
NM_004336.5(BUB1):c.3069del (p.His1024fs) rs587776642
NM_004336.5(BUB1):c.422+1G>A rs794729661
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590
NM_004655.4(AXIN2):c.1994del (p.Gly665fs) rs267606674
NM_004655.4(AXIN2):c.2116G>T (p.Glu706Ter) rs121908567
NM_005037.5(PPARG):c.472del (p.Ser158fs) rs587776687
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005215.4(DCC):c.4124C>A (p.Pro1375His) rs387906555
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) rs61762969
NM_006207.2(PDGFRL):c.67C>T (p.His23Tyr) rs137853148
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006231.3(POLE):c.1396A>G (p.Thr466Ala) rs761765763
NM_012222.2(MUTYH):c.1138del (p.Ala382fs) rs587778536
NM_012222.2(MUTYH):c.1178G>A (p.Gly393Asp) rs36053993
NM_012222.2(MUTYH):c.1218_1219dup (p.Glu407fs) rs587780078
NM_012222.2(MUTYH):c.1267C>T (p.Arg423Cys) rs150792276
NM_012222.2(MUTYH):c.1576C>A (p.Leu526Met) rs3219496
NM_012222.2(MUTYH):c.527A>G (p.Tyr176Cys) rs34612342
NM_012415.3(RAD54B):c.1252G>T (p.Asp418Tyr) rs119490107
NM_021922.2(FANCE):c.598C>T (p.Arg200Cys) rs763151358
NM_032043.2(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_138761.4(BAX):c.121del (p.Glu41fs) rs398122840
NM_138761.4(BAX):c.121dup (p.Glu41fs) rs398122840
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
NM_144997.7(FLCN):c.236C>G (p.Ser79Trp) rs137852930
NM_182643.3(DLC1):c.2875A>G (p.Thr959Ala) rs121908500
NM_182925.5(FLT4):c.2407-6C>G rs796052107
NM_182925.5(FLT4):c.2407-7C>T rs796052108
NM_182925.5(FLT4):c.2414A>C (p.His805Pro) rs796052106
NM_182925.5(FLT4):c.2433C>A (p.Gly811=) rs796052105
NM_182925.5(FLT4):c.2470C>A (p.Leu824Met) rs796052104
NM_182925.5(FLT4):c.2496C>G (p.Ser832=) rs796052103
NM_182925.5(FLT4):c.2498A>C (p.Tyr833Ser) rs796052102
NM_182925.5(FLT4):c.2502T>A (p.Asp834Glu) rs796052101
NM_182925.5(FLT4):c.2507G>A (p.Ser836Asn) rs796052100
NM_182925.5(FLT4):c.2519del (p.Phe840fs) rs796052099
NM_182925.5(FLT4):c.2542+12A>G rs751737827
NM_182925.5(FLT4):c.2542+18del rs796052098
NM_182925.5(FLT4):c.2542+20del rs796052097
NM_182925.5(FLT4):c.2647+31del rs796052109
NM_182925.5(FLT4):c.3002-9A>C rs796052114
NM_182925.5(FLT4):c.3056del (p.Phe1019fs) rs796052113
NM_182925.5(FLT4):c.3064del (p.Ala1022fs) rs796052112
NM_182925.5(FLT4):c.3065C>T (p.Ala1022Val) rs56364366
NM_182925.5(FLT4):c.3072del (p.Met1025fs) rs796052111
NM_182925.5(FLT4):c.3076del (p.Glu1026fs) rs796052110
chr10:108525702..109883836 complex variant
chr12:13090968..16310672 complex variant
chr14:20635208..21155433 complex variant
m.3308T>C rs28358582

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