ClinVar Miner

List of variants reported as pathogenic for gastric cancer by Laboratory for Genotyping Development, RIKEN

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 518
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter) rs587781948 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter) rs758081262 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter) rs762307622 0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00002
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) rs587782885 0.00002
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter) rs786203115 0.00002
NM_002354.3(EPCAM):c.491+1G>A rs606231203 0.00002
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter) rs750621215 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527 0.00002
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) rs764389018 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter) rs775036118 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_000051.4(ATM):c.829G>T (p.Glu277Ter) rs876660933 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894 0.00001
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter) rs397507568 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000077.5(CDKN2A):c.2T>A (p.Met1Lys) rs759871071 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999 0.00001
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs) rs63751327 0.00001
NM_000249.4(MLH1):c.2080G>T (p.Glu694Ter) rs147542208 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter) rs730881411 0.00001
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059 0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736 0.00001
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057 0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp) rs769237459 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001128425.2(MUTYH):c.2T>C (p.Met1Thr) rs865954220 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002878.4(RAD51D):c.263+1503C>T rs753486358 0.00001
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) rs587780784 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5278-1G>C rs80358099 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter) rs180177103 0.00001
NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter) rs1555461154 0.00001
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter) rs730881633 0.00001
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter) rs587780226 0.00001
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter) rs747604569 0.00001
NM_058216.3(RAD51C):c.1A>G (p.Met1Val) rs921435798 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_058216.3(RAD51C):c.905-2A>C rs779582317 0.00001
NM_000038.6(APC):c.1042C>T (p.Arg348Ter) rs1314843920
NM_000038.6(APC):c.147_150del (p.Lys49fs) rs587781694
NM_000038.6(APC):c.1612G>T (p.Glu538Ter)
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.1809dup (p.Ala604fs)
NM_000038.6(APC):c.4549C>T (p.Gln1517Ter) rs1114167596
NM_000038.6(APC):c.4782_4785del (p.Ala1595fs) rs1554086196
NM_000038.6(APC):c.4dup (p.Ala2fs)
NM_000038.6(APC):c.5572C>T (p.Arg1858Ter) rs1270783041
NM_000038.6(APC):c.5818del (p.Ile1940fs)
NM_000038.6(APC):c.6503dup (p.Pro2170fs)
NM_000038.6(APC):c.8246C>G (p.Ser2749Ter)
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs) rs1591517571
NM_000051.4(ATM):c.1235+2T>C rs2135296157
NM_000051.4(ATM):c.1258del (p.Ile420fs)
NM_000051.4(ATM):c.1347_1348del (p.Glu450fs)
NM_000051.4(ATM):c.1608-1G>A rs1565385010
NM_000051.4(ATM):c.1899-2A>C
NM_000051.4(ATM):c.191del (p.Leu64fs)
NM_000051.4(ATM):c.1931C>G (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1939G>T (p.Glu647Ter) rs1060501599
NM_000051.4(ATM):c.211G>T (p.Glu71Ter)
NM_000051.4(ATM):c.2140del (p.Thr714fs) rs2080473458
NM_000051.4(ATM):c.2145del (p.Val716fs)
NM_000051.4(ATM):c.2187C>G (p.Tyr729Ter)
NM_000051.4(ATM):c.2530G>T (p.Gly844Ter)
NM_000051.4(ATM):c.2542G>T (p.Glu848Ter) rs879254046
NM_000051.4(ATM):c.2554dup (p.Gln852fs)
NM_000051.4(ATM):c.2638+1G>T rs2135509713
NM_000051.4(ATM):c.270del (p.Arg90fs)
NM_000051.4(ATM):c.2723del (p.Val908fs)
NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter) rs1057517253
NM_000051.4(ATM):c.3077+1G>T rs192810283
NM_000051.4(ATM):c.3394A>T (p.Arg1132Ter)
NM_000051.4(ATM):c.3577-1G>A
NM_000051.4(ATM):c.3746+1G>T rs2082309297
NM_000051.4(ATM):c.3921del (p.Met1308fs)
NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter) rs2082389962
NM_000051.4(ATM):c.3993+2T>C rs2135710273
NM_000051.4(ATM):c.4228A>T (p.Lys1410Ter)
NM_000051.4(ATM):c.4339_4342del (p.Ser1447fs) rs1591663236
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer) rs771936821
NM_000051.4(ATM):c.4772T>A (p.Leu1591Ter)
NM_000051.4(ATM):c.4776+2T>A rs587781927
NM_000051.4(ATM):c.4879_4886dup (p.Asp1630fs)
NM_000051.4(ATM):c.4888dup (p.Asp1630fs)
NM_000051.4(ATM):c.5125C>T (p.Gln1709Ter)
NM_000051.4(ATM):c.5170G>T (p.Glu1724Ter)
NM_000051.4(ATM):c.5373_5376dup (p.Asn1793fs)
NM_000051.4(ATM):c.5462_5476delinsTCTTCAATTATTCTTCAATTATTAAAGCCAATGTGTGAAATTCTTCAATTA (p.Cys1821_Leu1826delinsPhePheAsnTyrSerSerIleIleLysAlaAsnValTer)
NM_000051.4(ATM):c.550A>T (p.Arg184Ter)
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_000051.4(ATM):c.5674+1G>A
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5756_5759del (p.Gln1919fs)
NM_000051.4(ATM):c.588del (p.Gly197fs) rs1057516683
NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs) rs587781727
NM_000051.4(ATM):c.5918+2T>A
NM_000051.4(ATM):c.6164del (p.Ile2055fs)
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer) rs747057367
NM_000051.4(ATM):c.6820dup (p.Ala2274fs)
NM_000051.4(ATM):c.6910del (p.Glu2304fs) rs1555119940
NM_000051.4(ATM):c.6951_6952del (p.Lys2318fs) rs2136339054
NM_000051.4(ATM):c.7181C>A (p.Ser2394Ter)
NM_000051.4(ATM):c.7356dup (p.Arg2453fs) rs2086116982
NM_000051.4(ATM):c.7410_7425del (p.Asn2469_Tyr2470insTer)
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.7519_7520del rs587781905
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs) rs1555124506
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.7928-2A>G rs864622610
NM_000051.4(ATM):c.8054C>A (p.Ser2685Ter) rs2086676230
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter) rs1060501695
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8432del (p.Lys2811fs) rs587782558
NM_000051.4(ATM):c.8786+1G>C rs17174393
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter) rs1591387978
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.10061del (p.Ser3354fs) rs2073055112
NM_000059.4(BRCA2):c.10062del (p.Gly3355fs)
NM_000059.4(BRCA2):c.10220_10223del (p.Asn3407fs) rs2137667778
NM_000059.4(BRCA2):c.1156del (p.Glu386fs) rs397507262
NM_000059.4(BRCA2):c.1184G>A (p.Trp395Ter) rs886040347
NM_000059.4(BRCA2):c.1261C>T (p.Gln421Ter) rs80358419
NM_000059.4(BRCA2):c.1278del (p.Asp427fs) rs80359274
NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs) rs80359283
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.4(BRCA2):c.1411G>T (p.Glu471Ter) rs80358428
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1770del (p.Phe590fs)
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.2368del (p.Glu790fs)
NM_000059.4(BRCA2):c.2516_2519del (p.Lys838_Tyr839insTer)
NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter) rs773356478
NM_000059.4(BRCA2):c.2802del (p.Asp935fs)
NM_000059.4(BRCA2):c.2950del (p.Glu984fs)
NM_000059.4(BRCA2):c.316+2T>C rs81002805
NM_000059.4(BRCA2):c.3235del (p.Ser1079fs) rs397507660
NM_000059.4(BRCA2):c.3296C>G (p.Ser1099Ter) rs397507663
NM_000059.4(BRCA2):c.3481_3482del (p.Asp1161fs)
NM_000059.4(BRCA2):c.3572del (p.Lys1191fs)
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) rs80359391
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3940A>T (p.Lys1314Ter)
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4339del (p.Ile1446_Val1447insTer) rs80359443
NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs) rs397507333
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.4539_4542del (p.Asp1513fs)
NM_000059.4(BRCA2):c.4649_4650del (p.Glu1550fs) rs1593903006
NM_000059.4(BRCA2):c.475+1G>A rs81002797
NM_000059.4(BRCA2):c.4808dup (p.Asn1603fs) rs80359466
NM_000059.4(BRCA2):c.4822G>T (p.Glu1608Ter) rs1566231194
NM_000059.4(BRCA2):c.4867C>T (p.Gln1623Ter)
NM_000059.4(BRCA2):c.4888del (p.Ser1630fs)
NM_000059.4(BRCA2):c.4903_4904del (p.Leu1635fs) rs80359471
NM_000059.4(BRCA2):c.4948del (p.Ser1650fs) rs80359474
NM_000059.4(BRCA2):c.4952del (p.Pro1651fs) rs397507752
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer) rs80359484
NM_000059.4(BRCA2):c.5279C>A (p.Ser1760Ter) rs80358751
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs) rs80359516
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5598dup (p.Thr1867fs)
NM_000059.4(BRCA2):c.5635G>T (p.Glu1879Ter) rs55996097
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.5773_5774del (p.Gln1925fs) rs2072538071
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.4(BRCA2):c.5980C>T (p.Gln1994Ter) rs80358831
NM_000059.4(BRCA2):c.6063_6066del (p.His2021fs)
NM_000059.4(BRCA2):c.6348del (p.Cys2117fs)
NM_000059.4(BRCA2):c.6359C>A (p.Ser2120Ter)
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6445dup (p.Ile2149fs)
NM_000059.4(BRCA2):c.6461_6473del (p.Tyr2154fs)
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6553del (p.Ala2185fs) rs80359603
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6620_6623del (p.Thr2207fs)
NM_000059.4(BRCA2):c.6649A>T (p.Lys2217Ter) rs1555284779
NM_000059.4(BRCA2):c.6656C>A (p.Ser2219Ter)
NM_000059.4(BRCA2):c.682-1G>T rs81002831
NM_000059.4(BRCA2):c.6922A>T (p.Lys2308Ter)
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs) rs80359659
NM_000059.4(BRCA2):c.7819_7820del (p.Thr2607fs) rs2137576469
NM_000059.4(BRCA2):c.793+2T>G rs886040942
NM_000059.4(BRCA2):c.798del (p.Phe266fs) rs886040739
NM_000059.4(BRCA2):c.8005A>T (p.Arg2669Ter)
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.805dup (p.Thr269fs) rs886040744
NM_000059.4(BRCA2):c.8140C>T (p.Gln2714Ter) rs80359058
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly) rs41293513
NM_000059.4(BRCA2):c.8364G>A (p.Trp2788Ter) rs397507981
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8629G>T (p.Glu2877Ter) rs80359121
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter) rs80359159
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9212dup (p.Val3072fs) rs1555288557
NM_000059.4(BRCA2):c.9648+1G>T
NM_000075.4(CDK4):c.279dup (p.Glu94Ter)
NM_000077.5(CDKN2A):c.458-521G>T
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.3(MSH6):c.114del (p.Ala40fs) rs1558644995
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs) rs63750439
NM_000179.3(MSH6):c.1637_1638del (p.Glu546fs) rs267608076
NM_000179.3(MSH6):c.1813del (p.Thr605fs)
NM_000179.3(MSH6):c.202A>T (p.Lys68Ter)
NM_000179.3(MSH6):c.2263G>T (p.Glu755Ter)
NM_000179.3(MSH6):c.238G>A (p.Val80Ile)
NM_000179.3(MSH6):c.2550C>G (p.Tyr850Ter) rs374230313
NM_000179.3(MSH6):c.2752del (p.His918fs)
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.3(MSH6):c.3194_3197del (p.Asn1065fs) rs2104472237
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs) rs863225406
NM_000179.3(MSH6):c.3258_3259insT (p.Pro1087fs)
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3511del (p.Asp1171fs)
NM_000179.3(MSH6):c.3556+1G>T rs1060502926
NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs) rs1553333738
NM_000179.3(MSH6):c.4001+1del
NM_000179.3(MSH6):c.4069_4070dup (p.Lys1358fs)
NM_000179.3(MSH6):c.625dup (p.Glu209fs)
NM_000249.4(MLH1):c.1526del (p.Leu509fs) rs1553653158
NM_000249.4(MLH1):c.207+1_207+2del rs267607719
NM_000249.4(MLH1):c.306+1G>A rs267607734
NM_000249.4(MLH1):c.469dup (p.Tyr157fs) rs63751101
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.4(MLH1):c.866_867del (p.His289fs) rs587779047
NM_000249.4(MLH1):c.866dup (p.His289fs)
NM_000249.4(MLH1):c.879_880insTGAG (p.Leu294Ter)
NM_000249.4(MLH1):c.979C>T (p.Gln327Ter) rs587782087
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1277-2A>G rs267607949
NM_000251.3(MSH2):c.1676del (p.Ser558_Leu559insTer) rs63750633
NM_000251.3(MSH2):c.1684G>T (p.Glu562Ter) rs1114167816
NM_000251.3(MSH2):c.1821_1822insA (p.Phe608fs)
NM_000251.3(MSH2):c.1A>G (p.Met1Val) rs267607911
NM_000251.3(MSH2):c.2320A>G (p.Ile774Val) rs775464903
NM_000251.3(MSH2):c.2361dup (p.Thr788fs) rs63750803
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs) rs63751618
NM_000251.3(MSH2):c.2771dup (p.Asn924fs)
NM_000251.3(MSH2):c.2T>A (p.Met1Lys)
NM_000251.3(MSH2):c.2T>C (p.Met1Thr) rs876658825
NM_000314.8(PTEN):c.254-2_254-1del
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.8(PTEN):c.370dup (p.Cys124fs)
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.493-1G>A rs786204862
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.959T>G (p.Leu320Ter) rs1114167667
NM_000455.5(STK11):c.1090C>T (p.Gln364Ter)
NM_000455.5(STK11):c.374+2T>A
NM_000465.4(BARD1):c.1029del (p.Ser344fs)
NM_000465.4(BARD1):c.1156G>T (p.Glu386Ter) rs1553622218
NM_000465.4(BARD1):c.1345C>T (p.Gln449Ter) rs1553619721
NM_000465.4(BARD1):c.1568+1G>A rs2106076135
NM_000465.4(BARD1):c.159-2A>C rs1424761304
NM_000465.4(BARD1):c.1641_1645dup (p.Asn549fs) rs1553616361
NM_000465.4(BARD1):c.1810+1G>T
NM_000465.4(BARD1):c.1843C>T (p.Gln615Ter) rs751710099
NM_000465.4(BARD1):c.1903+1G>C
NM_000465.4(BARD1):c.1903+1del
NM_000465.4(BARD1):c.1904-2_1904-1del
NM_000465.4(BARD1):c.1935_1954del (p.Cys645_Glu652delinsTer) rs587780024
NM_000465.4(BARD1):c.417_427del (p.Lys139fs)
NM_000465.4(BARD1):c.629del (p.Thr210fs)
NM_000465.4(BARD1):c.735del (p.Gln245fs)
NM_000465.4(BARD1):c.829_833dup (p.Ser279fs)
NM_000465.4(BARD1):c.886dup (p.Glu296fs)
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.285delinsAAGATTCAA (p.Phe95fs)
NM_000535.7(PMS2):c.51_55del (p.Ile18fs)
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter) rs760228510
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000546.6(TP53):c.1101-1G>C
NM_000546.6(TP53):c.308dup (p.Tyr103Ter)
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
NM_000546.6(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.6(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.913A>T (p.Lys305Ter) rs1597360340
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.205-1G>C rs1555605362
NM_001042492.3(NF1):c.2375T>A (p.Leu792His) rs1597713777
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.3424_3425del (p.Arg1142fs)
NM_001042492.3(NF1):c.3669_3687del (p.Ile1223fs)
NM_001042492.3(NF1):c.3871-1G>C
NM_001042492.3(NF1):c.3940dup (p.Trp1314fs)
NM_001042492.3(NF1):c.4577+2T>G rs1597747184
NM_001042492.3(NF1):c.496_497del (p.Val166fs) rs1135402788
NM_001042492.3(NF1):c.6098del (p.Asp2033fs)
NM_001042492.3(NF1):c.6607G>T (p.Glu2203Ter)
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.731-1G>C rs1555608928
NM_001042492.3(NF1):c.7481G>A (p.Trp2494Ter) rs2070167232
NM_001048174.2(MUTYH):c.1021G>T (p.Glu341Ter)
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) rs587780088
NM_001048174.2(MUTYH):c.1417C>T (p.Gln473Ter) rs932830392
NM_001048174.2(MUTYH):c.1441A>T (p.Lys481Ter)
NM_001048174.2(MUTYH):c.1495C>T (p.Gln499Ter)
NM_001048174.2(MUTYH):c.1536_1539dup (p.His514fs)
NM_001048174.2(MUTYH):c.181_182del (p.Asp61fs)
NM_001048174.2(MUTYH):c.185dup (p.Ala63fs)
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
NM_001048174.2(MUTYH):c.67C>T (p.Gln23Ter)
NM_001048174.2(MUTYH):c.704G>A (p.Trp235Ter) rs1570406302
NM_001128425.2(MUTYH):c.36+1G>C
NM_001128425.2(MUTYH):c.36+1del
NM_002354.3(EPCAM):c.11del (p.Pro4fs)
NM_002354.3(EPCAM):c.167del (p.Thr56fs)
NM_002354.3(EPCAM):c.179C>G (p.Ser60Ter)
NM_002354.3(EPCAM):c.1A>G (p.Met1Val)
NM_002354.3(EPCAM):c.315dup (p.Lys106Ter)
NM_002354.3(EPCAM):c.373A>T (p.Arg125Ter)
NM_002354.3(EPCAM):c.37del (p.Ala14fs)
NM_002354.3(EPCAM):c.3G>C (p.Met1Ile)
NM_002354.3(EPCAM):c.412C>T (p.Arg138Ter) rs397514661
NM_002354.3(EPCAM):c.658-1G>T rs1573400213
NM_002354.3(EPCAM):c.77-2A>G
NM_002354.3(EPCAM):c.87_88del (p.Cys29_Glu30delinsTer)
NM_002485.5(NBN):c.1396dup (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1523dup (p.Ser509fs) rs1586054199
NM_002485.5(NBN):c.1717G>T (p.Glu573Ter)
NM_002485.5(NBN):c.177_180dup (p.Asp61fs)
NM_002485.5(NBN):c.1846-1G>A rs61753717
NM_002485.5(NBN):c.2168_2172del (p.Leu723fs)
NM_002485.5(NBN):c.2206G>T (p.Glu736Ter) rs756831345
NM_002485.5(NBN):c.2235-1G>A
NM_002485.5(NBN):c.250C>T (p.Gln84Ter) rs1586108714
NM_002485.5(NBN):c.702+1G>A rs1057517104
NM_002485.5(NBN):c.835C>T (p.Gln279Ter)
NM_002485.5(NBN):c.896+1G>A rs778306619
NM_002878.4(RAD51D):c.144+1dup
NM_002878.4(RAD51D):c.1A>G (p.Met1Val) rs561425038
NM_002878.4(RAD51D):c.263+1617C>T
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs) rs753862052
NM_002878.4(RAD51D):c.574del (p.Gln192fs)
NM_002878.4(RAD51D):c.746del (p.Asn249fs) rs2091536198
NM_002878.4(RAD51D):c.866del (p.Gly289fs)
NM_002878.4(RAD51D):c.904-2A>T rs1403784434
NM_002878.4(RAD51D):c.941G>A (p.Trp314Ter)
NM_002878.4(RAD51D):c.974del (p.Gly325fs)
NM_004360.5(CDH1):c.1639G>T (p.Glu547Ter)
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg) rs746481984
NM_004360.5(CDH1):c.1712-2A>T rs552325719
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.2439+1G>T rs1567516230
NM_004360.5(CDH1):c.2575dup (p.Tyr859fs)
NM_004360.5(CDH1):c.49-1G>C
NM_004360.5(CDH1):c.688-2A>G rs2152130983
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter) rs121964873
NM_005359.6(SMAD4):c.1233_1249del (p.Ser411fs)
NM_005359.6(SMAD4):c.667+1G>C
NM_006361.6(HOXB13):c.585G>A (p.Trp195Ter) rs867793282
NM_006361.6(HOXB13):c.633C>A (p.Cys211Ter) rs760440566
NM_006361.6(HOXB13):c.760_763dup (p.Leu255fs)
NM_006361.6(HOXB13):c.775dup (p.Gln259fs)
NM_006361.6(HOXB13):c.814A>T (p.Lys272Ter)
NM_006361.6(HOXB13):c.844_845del (p.Ala282fs)
NM_007194.4(CHEK2):c.1067C>A (p.Ser356Ter)
NM_007194.4(CHEK2):c.1096-1G>T rs1060502716
NM_007194.4(CHEK2):c.1238T>A (p.Leu413Ter)
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.1567del (p.Arg523fs) rs587782684
NM_007194.4(CHEK2):c.1607del (p.Pro536fs) rs1555911551
NM_007194.4(CHEK2):c.468del (p.Ser155_Tyr156insTer)
NM_007194.4(CHEK2):c.668del (p.Met222_Ser223insTer)
NM_007194.4(CHEK2):c.684-1G>A rs1298667185
NM_007194.4(CHEK2):c.712_713dup (p.Glu239fs)
NM_007194.4(CHEK2):c.792+1G>A rs1555921011
NM_007194.4(CHEK2):c.826del (p.Ile276fs)
NM_007194.4(CHEK2):c.847-12_847-2del rs1410392419
NM_007194.4(CHEK2):c.847-1G>T
NM_007194.4(CHEK2):c.847-2A>G rs1601753141
NM_007194.4(CHEK2):c.908+2del
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter) rs80357086
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.2075_2076del (p.His692fs) rs397508936
NM_007294.4(BRCA1):c.2389_2390del (p.Glu797fs) rs80357695
NM_007294.4(BRCA1):c.2551G>T (p.Glu851Ter) rs398122662
NM_007294.4(BRCA1):c.2767_2770del (p.Val923fs) rs80357661
NM_007294.4(BRCA1):c.2860_2864del (p.Leu954fs) rs1597867185
NM_007294.4(BRCA1):c.302-2A>C rs80358011
NM_007294.4(BRCA1):c.3100_3101del (p.Asn1034fs)
NM_007294.4(BRCA1):c.3122C>G (p.Ser1041Ter) rs397509035
NM_007294.4(BRCA1):c.321del (p.Phe107fs) rs80357544
NM_007294.4(BRCA1):c.3388del (p.Ser1130fs) rs886040123
NM_007294.4(BRCA1):c.3397_3398del (p.Leu1133fs) rs80357577
NM_007294.4(BRCA1):c.342_343del (p.Ser114_Pro115insTer) rs80357881
NM_007294.4(BRCA1):c.3462dup (p.Asp1155fs) rs80357857
NM_007294.4(BRCA1):c.3544C>T (p.Gln1182Ter) rs80357296
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter) rs80356866
NM_007294.4(BRCA1):c.3932del (p.Asn1311fs) rs80357504
NM_007294.4(BRCA1):c.4335_4338dup (p.Gln1447fs) rs397509164
NM_007294.4(BRCA1):c.456_457del (p.Ser153fs) rs80357882
NM_007294.4(BRCA1):c.4579G>T (p.Glu1527Ter)
NM_007294.4(BRCA1):c.4957G>T (p.Val1653Leu) rs80357261
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5092G>T (p.Glu1698Ter) rs2051929740
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter) rs878854957
NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter) rs397509284
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.4(BRCA1):c.593+1G>A rs1567804153
NM_007294.4(BRCA1):c.603del (p.Gln202fs)
NM_007294.4(BRCA1):c.616C>T (p.Gln206Ter) rs397509301
NM_007294.4(BRCA1):c.670+1G>T rs398122706
NM_007294.4(BRCA1):c.81-1G>A rs80358018
NM_024675.4(PALB2):c.1206del (p.Leu403fs) rs876658431
NM_024675.4(PALB2):c.1384G>T (p.Glu462Ter) rs1597096243
NM_024675.4(PALB2):c.1451del (p.Ser483_Leu484insTer) rs1966967065
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs) rs1060502734
NM_024675.4(PALB2):c.1972del (p.Glu658fs) rs1555460548
NM_024675.4(PALB2):c.2235del (p.Ala746fs) rs1966858562
NM_024675.4(PALB2):c.2470del (p.Cys824fs) rs876658348
NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs) rs1555460315
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2827_2830del (p.Glu943fs) rs1224428422
NM_024675.4(PALB2):c.2834+2T>C rs864622481
NM_024675.4(PALB2):c.2T>A (p.Met1Lys)
NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter) rs1021662947
NM_024675.4(PALB2):c.3263del (p.Pro1088fs) rs1966509881
NM_024675.4(PALB2):c.49-1del rs1967113484
NM_024675.4(PALB2):c.609del (p.Lys203fs)
NM_024675.4(PALB2):c.659del (p.Ser220fs)
NM_024675.4(PALB2):c.745_749del (p.Pro249fs) rs876659326
NM_024675.4(PALB2):c.839_840insT (p.Ile281fs) rs1967016153
NM_024675.4(PALB2):c.886dup (p.Met296fs) rs587776408
NM_032043.3(BRIP1):c.1206del (p.Arg403fs)
NM_032043.3(BRIP1):c.1585G>T (p.Gly529Ter)
NM_032043.3(BRIP1):c.1774del (p.Trp592fs) rs2077606796
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs) rs1603328466
NM_032043.3(BRIP1):c.2095A>T (p.Lys699Ter)
NM_032043.3(BRIP1):c.220dup (p.Glu74fs)
NM_032043.3(BRIP1):c.2253_2254del (p.Lys752fs) rs1555591308
NM_032043.3(BRIP1):c.2300_2303del (p.Glu767fs)
NM_032043.3(BRIP1):c.2493-1G>C rs786203451
NM_032043.3(BRIP1):c.24T>G (p.Tyr8Ter) rs752411477
NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter) rs1555574803
NM_032043.3(BRIP1):c.2558del (p.Pro853fs)
NM_032043.3(BRIP1):c.2823_2826dup (p.Val943fs)
NM_032043.3(BRIP1):c.2830del (p.Gln944fs) rs2061353736
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs) rs1342519012
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.3(BRIP1):c.3307_3308del (p.Asp1102_Ile1103insTer)
NM_032043.3(BRIP1):c.337_343del (p.Thr113fs)
NM_032043.3(BRIP1):c.3592dup (p.Ile1198fs)
NM_032043.3(BRIP1):c.508-1G>A
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter) rs45459799
NM_032043.3(BRIP1):c.985C>T (p.Gln329Ter) rs2077991700
NM_058216.3(RAD51C):c.1027-2A>G rs587780835
NM_058216.3(RAD51C):c.1129T>C (p.Ter377Gln)
NM_058216.3(RAD51C):c.114_117dup (p.Glu40fs)
NM_058216.3(RAD51C):c.146-1G>C
NM_058216.3(RAD51C):c.799C>T (p.Gln267Ter)
NM_058216.3(RAD51C):c.837+1G>C rs760235677
NM_058216.3(RAD51C):c.965+1del
NM_058216.3(RAD51C):c.966-1G>T rs876658272

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