ClinVar Miner

List of variants reported as pathogenic for digestive system cancer by OMIM

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 201
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro) rs1566734 0.14574
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met) rs56079734 0.02335
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe) rs28756990 0.02049
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741 0.00022
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_002894.3(RBBP8):c.1009A>G (p.Lys337Glu) rs121434388 0.00017
NM_000249.3(MLH1):c.-42C>T rs41285097 0.00009
NM_002843.4(PTPRJ):c.640C>T (p.Arg214Cys) rs121434507 0.00006
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_012415.3(RAD54B):c.1252G>T (p.Asp418Tyr) rs119490107 0.00003
NM_032977.4(CASP10):c.440T>C (p.Met147Thr) rs121909776 0.00003
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451 0.00002
NM_138711.6(PPARG):c.857G>A (p.Arg286His) rs28936407 0.00002
NM_000179.3(MSH6):c.651dup (p.Lys218Ter) rs63750955 0.00001
NM_000546.6(TP53):c.566C>T (p.Ala189Val) rs121912665 0.00001
NM_000546.6(TP53):c.974G>T (p.Gly325Val) rs121912659 0.00001
NM_001040108.2(MLH3):c.3826T>C (p.Trp1276Arg) rs121908439 0.00001
NM_001085377.2(MCC):c.2087G>A (p.Arg696Gln) rs121917732 0.00001
NM_001127511.3(APC):c.-192A>G rs879253784 0.00001
NM_003579.4(RAD54L):c.188C>A (p.Pro63His) rs121908688 0.00001
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) rs121913530 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
L222*
MLH1, EPIGENETICALLY SILENCED
MLH1, EX16DEL
MLH1, HYPERMETHYLATION
MSH2, 24-BP INS
MSH2, 32-KB DEL, EX1-6
MSH2, DEL 50 CODONS
MSH6, 1-BP DEL, 594T
NC_000002.12:g.47430139_47449418del
NC_000003.11:g.37089454_37101079del
NC_000016.10:g.68602418_68796011del
NG_007111.1:g.2007_15002del
NM_000038.6(APC):c.1695del (p.Val566fs) rs397514032
NM_000038.6(APC):c.3199C>T (p.Gln1067Ter) rs137854571
NM_000038.6(APC):c.3359G>A (p.Gly1120Glu) rs28933379
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) rs121913327
NM_000038.6(APC):c.4183A>T (p.Ser1395Cys) rs137854578
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
NM_000142.5(FGFR3):c.850del (p.His284fs) rs587776836
NM_000142.5(FGFR3):c.964G>A (p.Glu322Lys) rs121913111
NM_000179.3(MSH6):c.1574_3439-428dup
NM_000179.3(MSH6):c.1602del (p.Tyr535fs) rs63751234
NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter) rs587779252
NM_000179.3(MSH6):c.3053_3054del (p.Leu1018fs) rs63751407
NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs) rs267608092
NM_000245.4(MET):c.3518C>T (p.Thr1173Ile) rs121913675
NM_000245.4(MET):c.3731A>G (p.Lys1244Arg) rs121913677
NM_000245.4(MET):c.3750G>A (p.Met1250Ile) rs121913676
NM_000249.4(MLH1):c.1038G>C (p.Gln346His) rs63751715
NM_000249.4(MLH1):c.1039-2329_1409+827del
NM_000249.4(MLH1):c.104_105delinsAC (p.Met35Asn) rs121912965
NM_000249.4(MLH1):c.131C>T (p.Ser44Phe) rs63751109
NM_000249.4(MLH1):c.1667+1_1667+8delinsATTT rs863223312
NM_000249.4(MLH1):c.1731+2247_1897-402del
NM_000249.4(MLH1):c.1764del (p.Ala589fs) rs63751486
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs) rs63750035
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1865T>A (p.Leu622His) rs63750693
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser) rs63750899
NM_000249.4(MLH1):c.199G>T (p.Gly67Trp) rs63750206
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu) rs63749939
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.210AGA[1] (p.Glu71del) rs63751642
NM_000249.4(MLH1):c.306+5G>A rs267607735
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.454-1G>A rs193922370
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.755C>A (p.Ser252Ter) rs63750198
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.4(MLH1):c.986A>C (p.His329Pro) rs63750710
NM_000251.1(MSH2):c.-4729_367-353del
NM_000251.1(MSH2):c.-823_1076+5984del
NM_000251.2(MSH2):c.-125_1076+?del
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1277-1180_1386+2226delinsCATTCTCTTTGAAAA
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs) rs1114167806
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter) rs63750047
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu) rs28929483
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.3(MSH2):c.2113del (p.Val705fs) rs63749811
NM_000251.3(MSH2):c.269_290dup (p.Tyr98fs) rs1553350126
NM_000251.3(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000455.5(STK11):c.108C>A (p.Tyr36Ter) rs137853079
NM_000455.5(STK11):c.650del (p.Pro217fs) rs397518442
NM_000455.5(STK11):c.936del (p.Lys312fs) rs397518443
NM_000535.7(PMS2):c.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1144+2T>A rs267608158
NM_000535.7(PMS2):c.1237_1239del (p.Lys413del) rs267608159
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.846del (p.Ser283fs) rs1057515571
NM_000546.6(TP53):c.105G>T (p.Leu35Phe) rs121912661
NM_000546.6(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000876.4(IGF2R):c.4346G>T (p.Gly1449Val) rs121434587
NM_000876.4(IGF2R):c.4391G>A (p.Gly1464Glu) rs121434588
NM_001040108.2(MLH3):c.2482G>T (p.Glu828Ter) rs587776622
NM_001040108.2(MLH3):c.885del (p.His296fs) rs1431264077
NM_001048174.2(MUTYH):c.1129C>T (p.Pro377Ser) rs121908382
NM_001048174.2(MUTYH):c.1157A>G (p.Gln386Arg) rs121908383
NM_001085377.2(MCC):c.2663C>T (p.Ala888Val) rs121917731
NM_001127511.2(APC):c.[-125delA;-195A>C]
NM_001127511.3(APC):c.-191T>C rs879253783
NM_001300.6(KLF6):c.465C>A (p.Ser155Arg) rs121909144
NM_001372051.1(CASP8):c.1228_1229del (p.Val410fs) rs587776665
NM_001372073.1(PDGFRL):c.67C>T (p.His23Tyr) rs137853148
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_001395463.1(PLA2G2A):c.144_145del (p.Cys48fs) rs587776800
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.101G>T (p.Gly34Val) rs28931589
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.4(CTNNB1):c.133_135del (p.Ser45del) rs587776850
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_002198.3(IRF1):c.22A>T (p.Met8Leu) rs121912469
NM_002354.2(EPCAM):c.859-1462_*1999del
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002835.4(PTPN12):c.182A>G (p.Lys61Arg) rs121434623
NM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln) rs121918714
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) rs104893815
NM_003242.6(TGFBR2):c.1601_1602dup (p.Ala535fs) rs587776769
NM_003502.4(AXIN1):c.1085_1116del (p.Val362fs) rs587776627
NM_003921.5(BCL10):c.136dup (p.Ile46fs) rs387906351
NM_004302.5(ACVR1B):c.1159_1163del (p.Asp387fs) rs387906389
NM_004302.5(ACVR1B):c.1262-502_1392+24del rs1555162597
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.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.1008G>T (p.Glu336Asp) rs267606712
NM_004360.5(CDH1):c.1590dup (p.Asn531fs) rs1555516535
NM_004360.5(CDH1):c.1711+1dup rs2152137028
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter) rs121964877
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val) rs121964878
NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter) rs121964874
NM_004360.5(CDH1):c.2386dup (p.Arg796fs) rs1375617541
NM_004360.5(CDH1):c.2440-396_*224delinsGGA rs2152143625
NM_004360.5(CDH1):c.49-2A>G rs1060501226
NM_004360.5(CDH1):c.59G>A (p.Trp20Ter) rs121964875
NM_004360.5(CDH1):c.70G>T (p.Glu24Ter) rs121964876
NM_004448.4(ERBB2):c.2326G>A (p.Gly776Ser) rs28933369
NM_004655.4(AXIN2):c.1994del (p.Gly665fs) rs267606674
NM_004655.4(AXIN2):c.2116G>T (p.Glu706Ter) rs121908567
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_005215.4(DCC):c.4124C>A (p.Pro1375His) rs387906555
NM_005215.4(DCC):c.503T>C (p.Met168Thr) rs121912967
NM_005359.6(SMAD4):c.1072G>T (p.Gly358Ter) rs121912576
NM_005359.6(SMAD4):c.1236C>G (p.Tyr412Ter) rs121912577
NM_005359.6(SMAD4):c.1477G>C (p.Asp493His) rs121912578
NM_005359.6(SMAD4):c.1543A>T (p.Arg515Ter) rs121912579
NM_005977.4(RNF6):c.305G>A (p.Arg102Lys) rs121434522
NM_005977.4(RNF6):c.724G>A (p.Ala242Thr) rs121434523
NM_005977.4(RNF6):c.731G>A (p.Gly244Asp) rs121434524
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
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_006218.4(PIK3CA):c.3203dup (p.Asn1068fs) rs587776802
NM_016373.4(WWOX):c.872T>C (p.Leu291Pro) rs119487098
NM_017763.6(RNF43):c.337C>T (p.Arg113Ter) rs1567880628
NM_017763.6(RNF43):c.394C>T (p.Arg132Ter) rs786205215
NM_021020.5(LZTS1):c.355A>G (p.Lys119Glu) rs119473032
NM_021020.5(LZTS1):c.85T>C (p.Ser29Pro) rs28937897
NM_032977.4(CASP10):c.769C>T (p.Gln257Ter) rs121909775
NM_138711.6(PPARG):c.466del (p.Ser156fs) rs587776687
NM_138711.6(PPARG):c.851A>C (p.Gln284Pro) rs121909242
NM_138711.6(PPARG):c.949A>T (p.Lys317Ter) rs121909243
NM_138761.4(BAX):c.121del (p.Glu41fs) rs398122840
NM_138761.4(BAX):c.121dup (p.Glu41fs) rs398122840
NM_144997.7(FLCN):c.236C>G (p.Ser79Trp) rs137852930
NM_182643.3(DLC1):c.2875A>G (p.Thr959Ala) rs121908500
NR_030286.1(MIR559):n.278_23134del
PDGRL, 2-BP DEL
m.10563T>C rs267606892
m.14985G>A rs207459995
m.15572T>C rs207459996
m.3308T>C rs28358582
m.6264G>A rs267606882
m.6277G>A rs281865417
m.7275T>C rs267606884
m.8009G>A rs199474826

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