ClinVar Miner

List of variants reported for not specified by Mayo Clinic Laboratories, Mayo Clinic

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Minimum conflict level:
ClinVar version:
Total variants: 452
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HGVS dbSNP gnomAD frequency
NM_001040108.2(MLH3):c.2476A>G (p.Asn826Asp) rs175081 0.98791
NM_004655.4(AXIN2):c.1365A>G (p.Pro455=) rs9915936 0.90382
NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu) rs2228006 0.86482
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319 0.82058
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_000179.3(MSH6):c.3173-101G>C rs2072447 0.78513
NM_000179.3(MSH6):c.3802-40C>G rs3136367 0.73398
NM_004360.5(CDH1):c.2076T>C (p.Ala692=) rs1801552 0.70379
NM_000546.6(TP53):c.74+38C>G rs1642785 0.66254
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_000038.6(APC):c.5034G>A (p.Gly1678=) rs42427 0.59504
NM_000038.6(APC):c.5880G>A (p.Pro1960=) rs465899 0.59308
NM_000038.6(APC):c.5268T>G (p.Ser1756=) rs866006 0.59230
NM_000038.6(APC):c.4479G>A (p.Thr1493=) rs41115 0.59177
NM_000038.6(APC):c.1635G>A (p.Ala545=) rs351771 0.59150
NM_000251.3(MSH2):c.211+9C>G rs2303426 0.55454
NM_004655.4(AXIN2):c.1386C>T (p.Pro462=) rs1133683 0.52439
NM_001040108.2(MLH3):c.4335A>G (p.Gln1445=) rs13712 0.52176
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992 0.46792
NM_001040108.2(MLH3):c.2531C>T (p.Pro844Leu) rs175080 0.42416
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_000251.3(MSH2):c.1511-91G>T rs3732182 0.41551
NM_000249.4(MLH1):c.453+79A>G rs4234259 0.41512
NM_000249.4(MLH1):c.1990-121C>T rs2241031 0.41163
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_004329.3(BMPR1A):c.1343-11T>C rs7074064 0.40534
NM_000251.3(MSH2):c.1661+12G>A rs3732183 0.40290
NM_004655.4(AXIN2):c.148C>T (p.Pro50Ser) rs2240308 0.39067
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_000249.4(MLH1):c.1039-78A>G rs11129748 0.36570
NM_000535.7(PMS2):c.705+17A>G rs62456182 0.33782
NM_000179.3(MSH6):c.3438+14A>T rs2020911 0.32279
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_000179.3(MSH6):c.540T>C (p.Asp180=) rs1800935 0.23857
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_000455.5(STK11):c.374+24G>T rs2075604 0.18985
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_004655.4(AXIN2):c.1712+19G>T rs7219582 0.14767
NM_000179.3(MSH6):c.276A>G (p.Pro92=) rs1800932 0.14697
NM_000179.3(MSH6):c.260+22C>G rs55927047 0.13136
NM_000179.3(MSH6):c.186C>A (p.Arg62=) rs1042820 0.12806
NM_000535.7(PMS2):c.2007-4G>A rs1805326 0.12350
NM_000535.7(PMS2):c.2007-7C>T rs55954143 0.12135
NM_000179.3(MSH6):c.628-56C>T rs1800936 0.11629
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000 0.11447
NM_004655.4(AXIN2):c.2062C>T (p.Leu688=) rs35415678 0.11118
NM_004360.5(CDH1):c.1937-13T>C rs2276330 0.09635
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_004655.4(AXIN2):c.956+16A>G rs35285779 0.08430
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_000179.3(MSH6):c.3172+171C>T rs3136337 0.08328
NM_000179.3(MSH6):c.642C>T (p.Tyr214=) rs1800937 0.07457
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_000038.6(APC):c.136-53T>C rs2304793 0.07347
NM_000546.6(TP53):c.97-29C>A rs17883323 0.07310
NM_000038.6(APC):c.645+32C>T rs2909961 0.06662
NM_004329.3(BMPR1A):c.431-26T>A rs7920259 0.06507
NM_000249.4(MLH1):c.1668-185T>C rs9858264 0.06044
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_000249.4(MLH1):c.1558+14G>A rs41562513 0.05554
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) rs3219484 0.04794
NM_000535.7(PMS2):c.2006+6G>A rs111905775 0.04390
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=) rs11818239 0.04296
NM_004655.4(AXIN2):c.432T>C (p.Ile144=) rs2240307 0.04207
NM_004329.3(BMPR1A):c.675+12G>A rs12267107 0.04183
NM_000535.7(PMS2):c.288C>T (p.Ala96=) rs12532895 0.03944
NM_004360.5(CDH1):c.531+10G>C rs33963999 0.03907
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_000249.4(MLH1):c.454-51T>C rs4647255 0.03218
NM_000251.3(MSH2):c.1661+90T>C rs10183143 0.03147
NM_000038.6(APC):c.7704A>G (p.Gly2568=) rs35043160 0.02992
NM_001040108.2(MLH3):c.2159A>G (p.Tyr720Cys) rs28756988 0.02978
NM_000251.3(MSH2):c.1760-62G>A rs17218439 0.02701
NM_000455.5(STK11):c.816C>T (p.Tyr272=) rs9282859 0.02603
NM_004329.3(BMPR1A):c.1342+6A>G rs55763614 0.02404
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_001048174.2(MUTYH):c.115+30A>G rs3219485 0.02310
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_001040108.2(MLH3):c.2390G>A (p.Arg797His) rs28756991 0.02060
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.02003
NM_001040108.2(MLH3):c.666G>A (p.Lys222=) rs28756980 0.01977
NM_000251.3(MSH2):c.573C>T (p.Leu191=) rs1800151 0.01972
NM_001040108.2(MLH3):c.444G>C (p.Val148=) rs11556091 0.01944
NM_001040108.2(MLH3):c.4242+13C>G rs77157930 0.01890
NM_000038.6(APC):c.220+124C>G rs76552546 0.01839
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_004360.5(CDH1):c.2634C>T (p.Gly878=) rs2229044 0.01638
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_000251.3(MSH2):c.1386+104C>T rs17224444 0.01603
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_004655.4(AXIN2):c.1383C>T (p.Ser461=) rs9914661 0.01367
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_004655.4(AXIN2):c.1615G>A (p.Val539Met) rs9913621 0.01361
NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln) rs28756981 0.01348
NM_000249.4(MLH1):c.1039-27T>A rs9862158 0.01307
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_000038.6(APC):c.3732A>G (p.Gln1244=) rs74380081 0.01174
NM_000038.6(APC):c.1695A>G (p.Glu565=) rs77921116 0.01170
NM_000249.4(MLH1):c.474C>T (p.Asn158=) rs4647256 0.01161
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_000038.6(APC):c.730-29A>T rs75083764 0.01144
NM_000038.6(APC):c.7201C>T (p.Leu2401=) rs2229994 0.01134
NM_000251.3(MSH2):c.2766T>C (p.Phe922=) rs55859129 0.01118
NM_000038.6(APC):c.645+61C>T rs56328836 0.01110
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_000249.4(MLH1):c.1039-29del rs746933807 0.01004
NM_000038.6(APC):c.1627-93A>C rs115157960 0.00999
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_000249.4(MLH1):c.588+11G>C rs4647258 0.00993
NM_001040108.2(MLH3):c.2825C>T (p.Thr942Ile) rs17102999 0.00989
NM_000546.6(TP53):c.108G>A (p.Pro36=) rs1800370 0.00974
NM_004360.5(CDH1):c.933C>G (p.Leu311=) rs35539711 0.00974
NM_000038.6(APC):c.1312+27G>A rs74975092 0.00973
NM_001040108.2(MLH3):c.3570+28A>T rs67547819 0.00949
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala) rs73346297 0.00930
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_000249.4(MLH1):c.1039-26T>A rs1360955428 0.00920
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_001040108.2(MLH3):c.8A>G (p.Lys3Arg) rs114829239 0.00905
NM_000038.6(APC):c.422+75T>C rs112114081 0.00876
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=) rs2020910 0.00869
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp) rs79732150 0.00649
NM_001190274.2(FBXO11):c.*1173A>T rs2020906 0.00645
NM_000179.3(MSH6):c.3557-40T>A rs189436849 0.00587
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_000249.4(MLH1):c.589-15C>T rs55658850 0.00582
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_001040108.2(MLH3):c.408T>C (p.Asp136=) rs61755655 0.00552
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_000038.6(APC):c.1958+8T>C rs62626346 0.00510
NM_001040108.2(MLH3):c.3987+15C>T rs117251698 0.00496
NM_000535.7(PMS2):c.2445+30A>G rs549704870 0.00490
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_000179.3(MSH6):c.3173-97T>C rs138463559 0.00436
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_000249.4(MLH1):c.545+20A>T rs121909453 0.00424
NM_000249.4(MLH1):c.453+25A>G rs4647246 0.00414
NM_000038.6(APC):c.933+30A>G rs145211300 0.00412
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_000249.4(MLH1):c.307-29C>A rs139620056 0.00398
NM_000251.3(MSH2):c.1662-9G>A rs17218356 0.00398
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00398
NM_004655.4(AXIN2):c.2109G>A (p.Arg703=) rs116525755 0.00396
NM_004655.4(AXIN2):c.1410C>T (p.His470=) rs149483825 0.00394
NM_000038.6(APC):c.729+23T>C rs75111475 0.00381
NM_004360.5(CDH1):c.-84G>A rs374268061 0.00369
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_005359.6(SMAD4):c.249+24A>G rs77389132 0.00278
NM_005359.6(SMAD4):c.455-6A>G rs181178864 0.00269
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_000038.6(APC):c.3264G>A (p.Lys1088=) rs114774495 0.00255
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00179
NM_001040108.2(MLH3):c.2490T>G (p.Phe830Leu) rs114015611 0.00177
NM_004655.4(AXIN2):c.1713-18G>A rs147664289 0.00169
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_000249.4(MLH1):c.885-24T>A rs201594027 0.00164
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069 0.00161
NM_000179.3(MSH6):c.3801+17T>C rs3136365 0.00159
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_000251.3(MSH2):c.1661+73A>G rs180805863 0.00142
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=) rs142775086 0.00136
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_001040108.2(MLH3):c.4242+28G>C rs188956387 0.00128
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_000038.6(APC):c.423-17T>A rs534684461 0.00114
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys) rs28939071 0.00104
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
NM_000038.6(APC):c.423-16A>T rs78919815 0.00101
NM_001040108.2(MLH3):c.3488G>A (p.Gly1163Asp) rs28757011 0.00100
NM_000038.6(APC):c.835-24A>T rs200399868 0.00091
NM_005359.6(SMAD4):c.904+29A>T rs543382977 0.00090
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_004655.4(AXIN2):c.270C>T (p.Asp90=) rs141655687 0.00076
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly) rs139871607 0.00075
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_001040108.2(MLH3):c.3571-26G>T rs369710216 0.00069
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_000249.4(MLH1):c.1039-25T>A rs764852270 0.00064
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) rs146572883 0.00056
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_004655.4(AXIN2):c.1908-21C>G rs190627728 0.00051
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000249.4(MLH1):c.1039-24T>A rs1285179213 0.00048
NM_004655.4(AXIN2):c.2052G>A (p.Ala684=) rs200573256 0.00046
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) rs61756468 0.00042
NM_000249.4(MLH1):c.702G>A (p.Glu234=) rs35908749 0.00041
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575 0.00040
NM_000249.4(MLH1):c.198C>T (p.Thr66=) rs61751642 0.00040
NM_004329.3(BMPR1A):c.430+25G>A rs200416589 0.00040
NM_000038.6(APC):c.730-22G>C rs115634618 0.00037
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00037
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_001126049.2(KLLN):c.-840G>A rs563841270 0.00036
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00032
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_000038.6(APC):c.221-29G>C rs369645686 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000251.3(MSH2):c.1277-16T>C rs368653974 0.00024
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654 0.00022
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422 0.00021
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00019
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_000546.6(TP53):c.1014C>T (p.Phe338=) rs150293825 0.00018
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe) rs150882838 0.00017
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 0.00015
NM_004360.5(CDH1):c.1353T>C (p.Ile451=) rs114192597 0.00014
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000249.4(MLH1):c.843A>C (p.Ala281=) rs146796765 0.00012
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val) rs138135866 0.00011
NM_000251.3(MSH2):c.1386+23T>G rs747646424 0.00010
NM_000314.8(PTEN):c.-290A>T rs985226639 0.00010
NM_000038.6(APC):c.95A>G (p.Asn32Ser) rs539108537 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000251.3(MSH2):c.317G>A (p.Arg106Lys) rs41295286 0.00009
NM_000455.5(STK11):c.862+26A>C rs762458568 0.00009
NM_000038.6(APC):c.4212C>A (p.Ser1404=) rs144655979 0.00008
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000546.6(TP53):c.559+24C>T rs56181208 0.00008
NM_000038.6(APC):c.729+31A>G rs374626709 0.00007
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly) rs41295282 0.00007
NM_000455.5(STK11):c.734+20G>A rs375315233 0.00007
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr) rs139618756 0.00006
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914 0.00006
NM_000179.3(MSH6):c.643G>A (p.Val215Ile) rs145959653 0.00006
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000455.5(STK11):c.970C>G (p.Pro324Ala) rs549474196 0.00005
NM_001040108.2(MLH3):c.3828-15A>C rs200169541 0.00005
NM_000038.6(APC):c.3876G>A (p.Thr1292=) rs377494451 0.00004
NM_000179.3(MSH6):c.2904C>G (p.Val968=) rs150683226 0.00004
NM_000179.3(MSH6):c.4002-25T>C rs199500983 0.00004
NM_000179.3(MSH6):c.749T>C (p.Val250Ala) rs587781275 0.00004
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala) rs267607840 0.00004
NM_000314.8(PTEN):c.-121A>G rs886047395 0.00004
NM_004655.4(AXIN2):c.1553A>G (p.Tyr518Cys) rs368289818 0.00004
NM_004655.4(AXIN2):c.2004G>A (p.Gly668=) rs144092307 0.00004
NM_000038.6(APC):c.1627-10T>G rs863224538 0.00003
NM_000038.6(APC):c.477C>T (p.Tyr159=) rs863224281 0.00003
NM_000179.3(MSH6):c.-8C>T rs565211544 0.00003
NM_000249.4(MLH1):c.116+5G>A rs267607710 0.00003
NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp) rs61751644 0.00003
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu) rs759263820 0.00003
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000251.3(MSH2):c.2458+8C>G rs189025757 0.00003
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala) rs63750797 0.00003
NM_000314.8(PTEN):c.-105G>T rs1316552000 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_004360.5(CDH1):c.2386C>T (p.Arg796Trp) rs777363517 0.00003
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly) rs767286063 0.00002
NM_000038.6(APC):c.8199A>G (p.Gln2733=) rs372365378 0.00002
NM_000249.4(MLH1):c.1558+22C>T rs863225374 0.00002
NM_000546.6(TP53):c.18A>C (p.Ser6=) rs573130482 0.00002
NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr) rs587782837 0.00002
NM_004329.3(BMPR1A):c.911A>G (p.Gln304Arg) rs730881434 0.00002
NM_004655.4(AXIN2):c.135C>T (p.Val45=) rs376726966 0.00002
NM_000038.6(APC):c.1243G>A (p.Ala415Thr) rs756336949 0.00001
NM_000038.6(APC):c.1310C>G (p.Pro437Arg) rs762936223 0.00001
NM_000038.6(APC):c.136-18T>C rs1261769588 0.00001
NM_000038.6(APC):c.1629T>C (p.Val543=) rs779848042 0.00001
NM_000038.6(APC):c.268A>G (p.Lys90Glu) rs763184444 0.00001
NM_000038.6(APC):c.3218C>T (p.Thr1073Ile) rs773354366 0.00001
NM_000038.6(APC):c.5430T>G (p.Asp1810Glu) rs149828124 0.00001
NM_000038.6(APC):c.5952T>C (p.Asn1984=) rs142019870 0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000179.3(MSH6):c.2830A>G (p.Ile944Val) rs878853723 0.00001
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His) rs779617676 0.00001
NM_000179.3(MSH6):c.3396T>A (p.Val1132=) rs1026907245 0.00001
NM_000249.4(MLH1):c.1039-23T>A rs749926534 0.00001
NM_000249.4(MLH1):c.682C>A (p.Leu228Met) rs751628735 0.00001
NM_000251.3(MSH2):c.2006-4G>A rs369853630 0.00001
NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg) rs267607995 0.00001
NM_000251.3(MSH2):c.2296A>G (p.Ile766Val) rs374399939 0.00001
NM_000251.3(MSH2):c.804A>G (p.Ser268=) rs876658954 0.00001
NM_000251.3(MSH2):c.905T>C (p.Leu302Ser) rs63749914 0.00001
NM_000251.3(MSH2):c.95C>G (p.Thr32Ser) rs552361923 0.00001
NM_000455.5(STK11):c.449T>C (p.Val150Ala) rs587781802 0.00001
NM_000546.6(TP53):c.1082G>A (p.Gly361Glu) rs587781663 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.769C>T (p.Leu257=) rs779761818 0.00001
NM_000546.6(TP53):c.891C>T (p.His297=) rs750578863 0.00001
NM_001040108.2(MLH3):c.3716-10C>T rs374204567 0.00001
NM_004329.3(BMPR1A):c.676-5T>C rs200537780 0.00001
NM_004655.4(AXIN2):c.1962C>A (p.Gly654=) rs377642903 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
MSH6:c.3647-51_3647-35del17 rs267607687
NM_000038.6(APC):c.1408+27A>G rs863225312
NM_000038.6(APC):c.193C>A (p.Gln65Lys) rs863225320
NM_000038.6(APC):c.2060T>G (p.Leu687Arg) rs863225324
NM_000038.6(APC):c.220+28A>G rs200746873
NM_000038.6(APC):c.244T>A (p.Phe82Ile) rs863225329
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr) rs1114167603
NM_000038.6(APC):c.3429T>C (p.Tyr1143=) rs1554084999
NM_000038.6(APC):c.3937A>G (p.Thr1313Ala) rs863225349
NM_000038.6(APC):c.4222G>A (p.Glu1408Lys) rs1554085632
NM_000038.6(APC):c.423-3_423-2del rs863225354
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.4354G>T (p.Val1452Leu) rs1172454959
NM_000038.6(APC):c.6565A>C (p.Lys2189Gln) rs1554087525
NM_000038.6(APC):c.7264A>T (p.Thr2422Ser) rs730881260
NM_000038.6(APC):c.7726G>A (p.Ala2576Thr) rs1554088617
NM_000038.6(APC):c.777G>T (p.Arg259=) rs147704593
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.3(MSH6):c.2187C>A (p.Ala729=) rs375610656
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del) rs587782858
NM_000179.3(MSH6):c.2745C>G (p.Ala915=) rs876658904
NM_000179.3(MSH6):c.2872C>G (p.Gln958Glu) rs1553414236
NM_000179.3(MSH6):c.2877C>T (p.Arg959=) rs781734958
NM_000179.3(MSH6):c.3097A>G (p.Met1033Val) rs1553414508
NM_000179.3(MSH6):c.3172G>C (p.Asp1058His) rs863225404
NM_000179.3(MSH6):c.3173-94A>G rs863225405
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His) rs63750753
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser) rs587779264
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000179.3(MSH6):c.3557-4dup rs267608102
NM_000179.3(MSH6):c.3646+35_3646+38del rs1805181
NM_000179.3(MSH6):c.3646+91T>C rs3136359
NM_000179.3(MSH6):c.3647-15A>C rs371171254
NM_000179.3(MSH6):c.3647-15A>G rs371171254
NM_000179.3(MSH6):c.3647-70TTTTTGTTTTAATTCCT[3] rs267607687
NM_000179.3(MSH6):c.369A>T (p.Lys123Asn) rs587782106
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.3(MSH6):c.3759_3760insT (p.Glu1254Ter) rs863225413
NM_000179.3(MSH6):c.3802-43dup rs34154602
NM_000179.3(MSH6):c.3854dup (p.Leu1286fs) rs863225415
NM_000179.3(MSH6):c.4001+49_4001+50insCTAACTGACCTTAAGTTTCAA rs863225419
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.4002-10del rs59056100
NM_000179.3(MSH6):c.661_672del (p.Glu221_Glu224del) rs1553412079
NM_000179.3(MSH6):c.818G>T (p.Gly273Val) rs769610487
NM_000249.4(MLH1):c.*32CTT[1] rs193922366
NM_000249.4(MLH1):c.-27C>A rs587779001
NM_000249.4(MLH1):c.1039-8del rs57509953
NM_000249.4(MLH1):c.1172A>G (p.Gln391Arg) rs587782884
NM_000249.4(MLH1):c.1668-139dup rs863225375
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.1918C>A (p.Pro640Thr) rs63749792
NM_000249.4(MLH1):c.194G>T (p.Gly65Val) rs63751465
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2091C>T (p.Leu697=) rs536488280
NM_000249.4(MLH1):c.293G>A (p.Gly98Asp) rs863225382
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.588+7T>C rs1553644066
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser) rs63750656
NM_000251.3(MSH2):c.1083_1100delinsATCTTCTAC (p.Asn361_Val367delinsLysSerSerThr) rs1553356523
NM_000251.3(MSH2):c.2005+3_2005+14del rs587779125
NM_000251.3(MSH2):c.2006G>T (p.Gly669Val) rs63751640
NM_000251.3(MSH2):c.212-4dup rs746333570
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.3(MSH2):c.793-23G>A rs17224255
NM_000314.6(PTEN):c.-921G>A rs786203676
NM_000314.8(PTEN):c.*78T>G rs1554826080
NM_000314.8(PTEN):c.-367del rs1554890188
NM_000314.8(PTEN):c.-500GGC[4] rs1237307954
NM_000314.8(PTEN):c.-500GGC[7] rs1237307954
NM_000314.8(PTEN):c.-512G>A rs886047387
NM_000314.8(PTEN):c.-534G>T rs886047385
NM_000314.8(PTEN):c.-534_-533delinsTT rs1554890129
NM_000314.8(PTEN):c.-546GGC[6] rs34413673
NM_000314.8(PTEN):c.-838C>T rs786201900
NM_000314.8(PTEN):c.101C>T (p.Ala34Val) rs1554893773
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr) rs1554893824
NM_000314.8(PTEN):c.209+7A>G rs1554897284
NM_000314.8(PTEN):c.254-30dup rs77494260
NM_000314.8(PTEN):c.287C>G (p.Pro96Arg) rs1554898074
NM_000314.8(PTEN):c.402_404del (p.Met134del) rs1554898152
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) rs786204865
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.8(PTEN):c.615G>A (p.Met205Ile) rs1554900653
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000314.8(PTEN):c.881G>A (p.Ser294Asn) rs1175543698
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.5(STK11):c.159_170del (p.Asp53_Gly56del) rs1131690953
NM_000455.5(STK11):c.527A>C (p.Asp176Ala) rs1064794805
NM_000455.5(STK11):c.710A>G (p.Asp237Gly) rs1555738459
NM_000535.7(PMS2):c.-24C>G rs748909615
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.24-12_24-11del rs1554306636
NM_000546.6(TP53):c.318C>G (p.Ser106Arg) rs1555526581
NM_000546.6(TP53):c.364G>A (p.Val122Met) rs587781495
NM_000546.6(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.695T>C (p.Ile232Thr) rs587781589
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.6(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.6(TP53):c.96+14T>C rs757865517
NM_000546.6(TP53):c.96+25ACCTGGAGGGCTGGGG[3] rs59758982
NM_001040108.2(MLH3):c.2962A>T (p.Ile988Phe) rs1192941281
NM_001040108.2(MLH3):c.3828-24del rs761256304
NM_001040108.2(MLH3):c.911G>T (p.Gly304Val) rs540533901
NM_001048174.2(MUTYH):c.305-4C>A rs767717597
NM_001048174.2(MUTYH):c.930G>T (p.Gln310His) rs3219489
NM_001126049.2(KLLN):c.-720C>A rs1554889798
NM_001126049.2(KLLN):c.-955G>T rs587781128
NM_004360.5(CDH1):c.1435G>A (p.Asp479Asn) rs587782796
NM_004360.5(CDH1):c.2164+17dup rs34939176
NM_004655.4(AXIN2):c.1235A>C (p.Asn412Thr) rs115931022
NM_005359.6(SMAD4):c.904+45del rs386387676
NM_005359.6(SMAD4):c.904+45dup rs386387676

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