ClinVar Miner

List of variants reported as likely benign for colorectal neoplasm by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (84):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met) rs56079734 0.02335
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602 0.01700
NM_004655.4(AXIN2):c.1383C>T (p.Ser461=) rs9914661 0.01367
NM_001318789.2(TLR2):c.1626C>G (p.Leu542=) rs5743701 0.01010
NM_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_001904.4(CTNNB1):c.14-4A>G rs5743391 0.00827
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp) rs79732150 0.00649
NM_005215.4(DCC):c.1062C>T (p.Val354=) rs141716650 0.00555
NM_005215.4(DCC):c.2053+9T>C rs186819956 0.00534
NM_000534.5(PMS1):c.1643A>G (p.Lys548Arg) rs61736576 0.00477
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=) rs4135386 0.00390
NM_004333.6(BRAF):c.1141-19C>T rs71645959 0.00360
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_002354.3(EPCAM):c.491+19A>T rs114475602 0.00306
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_144997.7(FLCN):c.1177-21G>A rs150687840 0.00276
NM_001211.6(BUB1B):c.751+15C>T rs74499462 0.00241
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_182643.3(DLC1):c.3856-6G>A rs200102232 0.00179
NM_004655.4(AXIN2):c.1070G>A (p.Arg357His) rs8081536 0.00172
NM_182643.3(DLC1):c.167A>G (p.Glu56Gly) rs143324598 0.00168
NM_000142.5(FGFR3):c.1959+15G>C rs17886888 0.00158
NM_004655.4(AXIN2):c.1952C>T (p.Ser651Leu) rs74006838 0.00128
NM_182643.3(DLC1):c.2147T>C (p.Ile716Thr) rs114637912 0.00117
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857 0.00112
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=) rs139881155 0.00075
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251 0.00070
NM_001904.4(CTNNB1):c.1683+17A>G rs2276826 0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_004333.6(BRAF):c.981-20C>T rs374896031 0.00066
NM_001382430.1(AKT1):c.1032C>T (p.Cys344=) rs56289559 0.00063
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.2476T>G (p.Leu826Val) rs145245264 0.00054
NM_144997.7(FLCN):c.1269C>T (p.His423=) rs41464156 0.00053
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=) rs74692094 0.00041
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_144997.7(FLCN):c.619-20C>T rs202217257 0.00037
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099 0.00035
NM_001040108.2(MLH3):c.4011+15T>G rs139032600 0.00031
NM_000251.3(MSH2):c.1661+11C>T rs377154011 0.00030
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979 0.00029
NM_003242.6(TGFBR2):c.263+17A>C rs34771516 0.00029
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00028
NM_001429.4(EP300):c.2380-18T>C rs189468196 0.00028
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_144997.7(FLCN):c.1326C>T (p.His442=) rs145004158 0.00023
NM_000249.4(MLH1):c.307-19A>G rs121909451 0.00022
NM_144997.7(FLCN):c.1176+15T>C rs550870270 0.00020
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) rs63750006 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_182643.3(DLC1):c.2265G>C (p.Thr755=) rs138749997 0.00018
NM_004333.6(BRAF):c.240+18A>G rs368584855 0.00017
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_004333.6(BRAF):c.1860+16A>G rs368859030 0.00016
NM_144997.7(FLCN):c.1062+7G>A rs540198776 0.00016
NM_144997.7(FLCN):c.1278C>T (p.Ile426=) rs41459448 0.00016
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_004655.4(AXIN2):c.1975C>T (p.Arg659Trp) rs142670753 0.00014
NM_000251.3(MSH2):c.505A>G (p.Ile169Val) rs63750716 0.00013
NM_003242.6(TGFBR2):c.94+16238C>T rs149757320 0.00013
NM_000179.3(MSH6):c.3172+20T>C rs3136335 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_001040108.2(MLH3):c.873T>G (p.Asn291Lys) rs767413852 0.00009
NM_004333.6(BRAF):c.1993-11T>C rs750297886 0.00009
NM_004333.6(BRAF):c.399A>G (p.Ser133=) rs397507463 0.00009
NM_004655.4(AXIN2):c.2406-8C>G rs143905290 0.00009
NM_144997.7(FLCN):c.1432+8C>T rs201898226 0.00009
NM_144997.7(FLCN):c.779+9C>T rs373504780 0.00009
NM_000038.6(APC):c.573T>C (p.Tyr191=) rs185154886 0.00008
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204 0.00008
NM_144997.7(FLCN):c.792G>A (p.Ala264=) rs140500421 0.00008
NM_182643.3(DLC1):c.3609C>A (p.Thr1203=) rs145989730 0.00008
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065 0.00007
NM_004333.6(BRAF):c.1694+13C>T rs368578780 0.00007
NM_144997.7(FLCN):c.867C>T (p.Leu289=) rs367562964 0.00007
NM_004333.6(BRAF):c.504+19C>T rs780617193 0.00006
NM_144997.7(FLCN):c.396+7C>T rs781155484 0.00006
NM_000142.5(FGFR3):c.1827C>G (p.Ala609=) rs750472969 0.00005
NM_000249.4(MLH1):c.438A>G (p.Gln146=) rs377279035 0.00005
NM_144997.7(FLCN):c.1692C>T (p.His564=) rs201810397 0.00005
NM_000038.6(APC):c.1242C>T (p.Arg414=) rs751423790 0.00004
NM_000179.3(MSH6):c.3557-17A>T rs542542093 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_002354.3(EPCAM):c.342C>T (p.Ser114=) rs200495968 0.00004
NM_004333.6(BRAF):c.915G>A (p.Ala305=) rs145675911 0.00004
NM_007194.4(CHEK2):c.847-10C>G rs745745105 0.00004
NM_144997.7(FLCN):c.1068G>T (p.Leu356=) rs534904034 0.00004
NM_144997.7(FLCN):c.645C>T (p.Cys215=) rs772360950 0.00004
NM_004333.6(BRAF):c.1314+17T>C rs1057524397 0.00003
NM_004333.6(BRAF):c.2128-10_2128-9insC rs758588300 0.00003
NM_004333.6(BRAF):c.2136C>T (p.Ala712=) rs377165711 0.00003
NM_144997.7(FLCN):c.1380C>T (p.Leu460=) rs773581294 0.00003
NM_144997.7(FLCN):c.450T>C (p.Phe150=) rs200672897 0.00003
NM_000142.5(FGFR3):c.1935C>T (p.Leu645=) rs104886006 0.00002
NM_000179.3(MSH6):c.3801+14G>T rs755626529 0.00002
NM_000546.6(TP53):c.-12C>T rs375229869 0.00002
NM_003242.6(TGFBR2):c.927G>A (p.Thr309=) rs756625146 0.00002
NM_004333.6(BRAF):c.1433-18G>A rs763267814 0.00002
NM_182643.3(DLC1):c.1348+9A>C rs200908536 0.00002
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His) rs143095746 0.00001
NM_004333.6(BRAF):c.1338G>A (p.Ser446=) rs765215499 0.00001
NM_004333.6(BRAF):c.1848C>A (p.Ser616=) rs752115982 0.00001
NM_004333.6(BRAF):c.1992+15C>T rs766089848 0.00001
NM_004333.6(BRAF):c.298T>C (p.Leu100=) rs761709697 0.00001
NM_004333.6(BRAF):c.712-18T>C rs535496777 0.00001
NM_144997.7(FLCN):c.1227C>T (p.Tyr409=) rs561236067 0.00001
NM_144997.7(FLCN):c.1301-8T>C rs571192457 0.00001
NM_144997.7(FLCN):c.1539-11G>C rs368472222 0.00001
NM_144997.7(FLCN):c.619-8C>T rs1274815686 0.00001
NM_144997.7(FLCN):c.780-13C>T rs777670469 0.00001
NM_144997.7(FLCN):c.981A>G (p.Ala327=) rs763078516 0.00001
NM_182643.3(DLC1):c.3327+8C>T rs559854315 0.00001
NM_000038.6(APC):c.422+10C>G rs899376835
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.423-4dup rs730881230
NM_000038.6(APC):c.5265_5268delinsATCG (p.Ala1755_Ser1756=) rs1554086584
NM_000179.3(MSH6):c.3228C>T (p.Arg1076=) rs786203698
NM_000179.3(MSH6):c.3557-4dup rs267608102
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
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.1990-17G>C rs1057521535
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del) rs267607919
NM_000535.7(PMS2):c.2043G>A (p.Gln681=) rs876658953
NM_004333.6(BRAF):c.1206C>A (p.Pro402=) rs201758035
NM_004333.6(BRAF):c.1432+17_1432+19del rs777363183
NM_004333.6(BRAF):c.1719C>A (p.Ile573=) rs2128999629
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004333.6(BRAF):c.2128-27_2128-19del rs761539834
NM_004655.4(AXIN2):c.-116-13del rs530658215
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser) rs115931022
NM_005215.4(DCC):c.2158C>T (p.Leu720=) rs138143831
NM_144997.7(FLCN):c.1353T>C (p.Pro451=) rs1597580172
NM_144997.7(FLCN):c.756G>A (p.Ala252=) rs746664975
NM_144997.7(FLCN):c.871+13T>C rs770537219

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