ClinVar Miner

List of variants studied for cancer by OMIM

Included ClinVar conditions (490):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 492
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HGVS dbSNP gnomAD frequency
NC_000007.14:g.22727026C>G rs1800795 0.70949
NM_002443.3(MSMB):c.-89T= rs10993994 0.45944
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu) rs4792311 0.27559
NM_000249.3(MLH1):c.-93G>A rs1800734 0.22121
NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro) rs1566734 0.14574
NM_001142616.3(EHBP1):c.1185+30064G>A rs721048 0.13334
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) rs5030739 0.02886
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_017449.5(EPHB2):c.*187A>T rs76826147 0.01125
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln) rs28756986 0.00772
NM_002716.5(PPP2R1B):c.269G>A (p.Gly90Asp) rs1805076 0.00712
NM_138715.3(MSR1):c.520G>T (p.Asp174Tyr) rs72552387 0.00667
NM_032782.5(HAVCR2):c.302C>T (p.Thr101Ile) rs147827860 0.00543
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_017449.5(EPHB2):c.835G>T (p.Ala279Ser) rs35882952 0.00424
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_021133.4(RNASEL):c.793G>T (p.Glu265Ter) rs74315364 0.00334
NM_017449.5(EPHB2):c.2032G>A (p.Asp678Asn) rs28936395 0.00287
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met) rs35960726 0.00270
NM_002555.6(SLC22A18):c.257G>A (p.Arg86His) rs78838117 0.00263
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly) rs538912281 0.00247
NM_002542.6(OGG1):c.137G>A (p.Arg46Gln) rs104893751 0.00233
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln) rs121917739 0.00171
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys) rs184868814 0.00159
NM_018127.7(ELAC2):c.1865A>T (p.Glu622Val) rs119484087 0.00156
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys) rs28939071 0.00104
NM_020762.4(SRGAP1):c.1849C>T (p.Arg617Cys) rs114817817 0.00101
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_001166108.2(PALLD):c.1965-12616C>T rs121908291 0.00026
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_021133.4(RNASEL):c.3G>A (p.Met1Ile) rs74315365 0.00021
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
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_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr) rs755855285 0.00014
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_001135608.3(ARHGAP26):c.1250A>G (p.Asn417Ser) rs121918546 0.00010
NM_000249.3(MLH1):c.-42C>T rs41285097 0.00009
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val) rs537209983 0.00009
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612 0.00006
NM_002843.4(PTPRJ):c.640C>T (p.Arg214Cys) rs121434507 0.00006
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_001276270.2(MBD4):c.1544-1G>T rs778697654 0.00005
NM_001276270.2(MBD4):c.1670T>A (p.Leu557Ter) rs200758755 0.00004
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter) rs74315369 0.00003
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 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_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451 0.00002
NM_001040108.2(MLH3):c.70C>G (p.Gln24Glu) rs28937870 0.00002
NM_003921.5(BCL10):c.488C>T (p.Thr163Met) rs370432633 0.00002
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 0.00002
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val) rs121964871 0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527 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_000245.4(MET):c.3281A>G (p.His1094Arg) rs121913243 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_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_002555.6(SLC22A18):c.698C>T (p.Ser233Phe) rs121909071 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003000.3(SDHB):c.423+1G>A rs398122805 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003579.4(RAD54L):c.188C>A (p.Pro63His) rs121908688 0.00001
NM_003579.4(RAD54L):c.973G>A (p.Gly325Arg) rs121908690 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004448.4(ERBB2):c.2570A>G (p.Asn857Ser) rs28933370 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
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) rs121913615 0.00001
NM_005612.5(REST):c.831_832del (p.Cys278fs) rs869025310 0.00001
NM_005612.5(REST):c.965A>G (p.His322Arg) rs869025312 0.00001
NM_018127.6(ELAC2):c.1641dup (p.His548Alafs) rs387906327 0.00001
NM_020762.4(SRGAP1):c.447A>C (p.Gln149His) rs781626187 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter) rs121907909 0.00001
ARHGAP26, 52-BP INS
ARHGAP26, 74-BP INS
FLT3, INTERNAL TANDEM DUP
GRCh38/hg38 11p15.5(chr11:2000799-2001783)x3
L222*
MLH1, EX16DEL
MLH1, HYPERMETHYLATION
MSH2, 24-BP INS
MSH2, 32-KB DEL, EX1-6
MSH2, DEL 50 CODONS
MSH6, 1-BP DEL, 594T
NC_000001.10:g.17375249_17390927del15679
NC_000001.10:g.17376556_17396932del20377
NC_000002.12:g.47430139_47449418del
NC_000003.11:g.37089454_37101079del
NC_000008.11:g.52623770_52685461del
NC_012920.1(MT-CO1):m.6264G>A rs267606882
NC_012920.1(MT-CO1):m.6277G>A rs281865417
NC_012920.1(MT-CO1):m.7275T>C rs267606884
NC_012920.1(MT-CO2):m.8009G>A rs199474826
NC_012920.1(MT-CYB):m.14985G>A rs207459995
NC_012920.1(MT-CYB):m.15572T>C rs207459996
NC_012920.1(MT-ND1):m.3308T>C rs28358582
NC_012920.1(MT-ND4L):m.10563T>C rs267606892
NF1, IVS34, G-A, +18
NG_007109.2:g.4853_5124|gom
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_000051.4(ATM):c.8671+2_8671+3insTA rs2137087134
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs) rs80359328
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) rs80358785
NM_000059.4(BRCA2):c.5823del (p.Val1942fs) rs80359540
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000127.3(EXT1):c.1431dup (p.Ser478fs) rs1554578798
NM_000127.3(EXT1):c.528_535del (p.Lys177fs) rs587776540
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
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_000222.3(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000245.4(MET):c.3392T>C (p.Met1131Thr) rs121913668
NM_000245.4(MET):c.3518C>T (p.Thr1173Ile) rs121913675
NM_000245.4(MET):c.3562G>T (p.Val1188Leu) rs121913669
NM_000245.4(MET):c.3583C>G (p.Leu1195Val) rs121913673
NM_000245.4(MET):c.3658G>A (p.Val1220Ile) rs121913670
NM_000245.4(MET):c.3682G>A (p.Asp1228Asn) rs121913671
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) rs121913246
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.1852_1853delinsGC (p.Lys618Ala) rs35502531
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_000251.3(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_000314.8(PTEN):c.253+1G>A rs587776667
NM_000314.8(PTEN):c.362C>G (p.Ala121Gly) rs121909237
NM_000321.3(RB1):c.-189G>T rs387906520
NM_000321.3(RB1):c.-198G>A rs387906521
NM_000321.3(RB1):c.1049+1G>T rs587776782
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.3(RB1):c.1436ACA[1] (p.Asn480del) rs587776788
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.3(RB1):c.1700C>T (p.Ser567Leu) rs137853292
NM_000321.3(RB1):c.1760_1769del (p.Glu587fs) rs587776784
NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter) rs137853297
NM_000321.3(RB1):c.1949_1957del (p.Phe650_Lys653delinsTer) rs587776785
NM_000321.3(RB1):c.1960+2T>C rs587776780
NM_000321.3(RB1):c.2023G>T (p.Glu675Ter) rs137853295
NM_000321.3(RB1):c.2107-2A>G rs1593538130
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.3(RB1):c.2211G>A (p.Glu737=) rs587776787
NM_000321.3(RB1):c.2212-1G>A rs587776786
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter) rs121913297
NM_000321.3(RB1):c.2244del (p.Glu748fs) rs587776781
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.3(RB1):c.2490-1398A>G rs587776791
NM_000321.3(RB1):c.2520+1del rs587776779
NM_000321.3(RB1):c.43_65dup (p.Pro23fs) rs587776790
NM_000321.3(RB1):c.607+1G>T rs587776789
NM_000321.3(RB1):c.979_1033dup (p.Thr345delinsLysLysTer) rs1555285429
NM_000455.5(STK11):c.108C>A (p.Tyr36Ter) rs137853079
NM_000455.5(STK11):c.488G>A (p.Gly163Asp) rs137853078
NM_000455.5(STK11):c.650del (p.Pro217fs) rs397518442
NM_000455.5(STK11):c.936del (p.Lys312fs) rs397518443
NM_000458.4(HNF1B):c.46del (p.Leu16fs)
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_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000546.6(TP53):c.105G>T (p.Leu35Phe) rs121912661
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.6(TP53):c.475_481dup (p.Ala161fs) rs863223301
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.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.6(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_000551.4(VHL):c.548C>A (p.Ser183Ter) rs5030823
NM_000876.4(IGF2R):c.4346G>T (p.Gly1449Val) rs121434587
NM_000876.4(IGF2R):c.4391G>A (p.Gly1464Glu) rs121434588
NM_001012393.5(OPCML):c.263C>G (p.Pro88Arg) rs137852691
NM_001040108.2(MLH3):c.1496A>G (p.Asn499Ser) rs28937871
NM_001040108.2(MLH3):c.2482G>T (p.Glu828Ter) rs587776622
NM_001040108.2(MLH3):c.885del (p.His296fs) rs1431264077
NM_001042492.3(NF1):c.1642-8A>G rs267606602
NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter) rs137854555
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_001276270.2(MBD4):c.1384C>T (p.Arg462Trp) rs1380952147
NM_001276270.2(MBD4):c.1688G>A (p.Trp563Ter) rs939751619
NM_001300.6(KLF6):c.465C>A (p.Ser155Arg) rs121909144
NM_001368894.2(PAX6):c.10+5G>C rs587776572
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys) rs121907918
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter) rs121907924
NM_001370959.1(POU6F2):c.62C>G (p.Ser21Ter) rs2116574924
NM_001370959.1(POU6F2):c.660G>T (p.Gln220His) rs121918261
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_001405607.1(PBRM1):c.4043_4050del (p.Asp1348fs) rs864321679
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.110C>G (p.Ser37Cys) rs121913403
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_001987.5(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly) rs587776710
NM_001987.5(ETV6):c.226G>T (p.Glu76Ter) rs121434637
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs) rs398124628
NM_002198.3(IRF1):c.22A>T (p.Met8Leu) rs121912469
NM_002198.3(IRF1):c.31T>C (p.Trp11Arg) rs121912470
NM_002354.2(EPCAM):c.859-1462_*1999del
NM_002439.5(MSH3):c.1148del (p.Lys383fs) rs587776701
NM_002447.4(MST1R):c.917G>A (p.Arg306His) rs200046052
NM_002520.7(NPM1):c.860_863dup (p.Trp288fs) rs587776806
NM_002520.7(NPM1):c.863_864insCATG (p.Trp288fs) rs1554138188
NM_002520.7(NPM1):c.863_864insCCTG (p.Trp288fs) rs1554138189
NM_002520.7(NPM1):c.863_864insCGTG (p.Trp288fs) rs1554138188
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002555.6(SLC22A18):c.864_865ins[NC_000011.10:g.2919738_2919848]
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_002834.5(PTPN11):c.227A>T (p.Glu76Val) rs121918465
NM_002835.4(PTPN12):c.182A>G (p.Lys61Arg) rs121434623
NM_003000.3(SDHB):c.(-151_-1)_(72+1_73-1)del
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly) rs74315370
NM_003000.3(SDHB):c.201-4429_287-934del
NM_003000.3(SDHB):c.302G>A (p.Cys101Tyr) rs74315371
NM_003000.3(SDHB):c.395A>C (p.His132Pro) rs74315372
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.3(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003000.3(SDHB):c.716_719del (p.Ser239fs) rs587781266
NM_003072.5(SMARCA4):c.2617-3C>G rs587777463
NM_003072.5(SMARCA4):c.3239G>A (p.Gly1080Asp) rs587777464
NM_003072.5(SMARCA4):c.3533G>A (p.Trp1178Ter) rs587777460
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_003072.5(SMARCA4):c.4170+1G>A rs587777461
NM_003072.5(SMARCA4):c.643C>T (p.Gln215Ter) rs587777462
NM_003073.5(SMARCB1):c.591del (p.Gln198fs) rs587776678
NM_003073.5(SMARCB1):c.629-361_795+2103dup
NM_003073.5(SMARCB1):c.986+1G>A rs112038099
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_003842.5(TNFRSF10B):c.1150_1151dup (p.Met385fs)
NM_003921.5(BCL10):c.136dup (p.Ile46fs) rs387906351
NM_003921.5(BCL10):c.428del (p.Phe143fs) rs587776632
NM_004119.3(FLT3):c.2503G>A (p.Asp835Asn) rs121913488
NM_004119.3(FLT3):c.2503G>C (p.Asp835His) rs121913488
NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr) rs121913488
NM_004119.3(FLT3):c.2503_2505del (p.Asp835del) rs121913486
NM_004119.3(FLT3):c.2504A>T (p.Asp835Val) rs121909646
NM_004119.3(FLT3):c.2505T>A (p.Asp835Glu) rs121913487
NM_004119.3(FLT3):c.2520_2521insGGATCC (p.Ser840_Asn841insGlySer) rs398122514
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.1397G>T (p.Gly466Val) rs121913351
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) rs121913366
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_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) rs1555760738
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter) rs121964873
NM_004364.5(CEBPA):c.115_121del (p.Pro39fs) rs587776848
NM_004364.5(CEBPA):c.148G>T (p.Glu50Ter) rs121912791
NM_004364.5(CEBPA):c.211_214dup (p.Ala72fs) rs587776849
NM_004364.5(CEBPA):c.251A>T (p.His84Leu) rs28931590
NM_004364.5(CEBPA):c.68del (p.Pro23fs) rs137852728
NM_004364.5(CEBPA):c.925_951dup (p.Glu309_Leu317dup) rs1555741967
NM_004364.5(CEBPA):c.935_991dup (p.Gln312_Gln330dup) rs1555741948
NM_004448.4(ERBB2):c.2263_2264delinsCC (p.Leu755Pro) rs121913469
NM_004448.4(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup) rs397516975
NM_004448.4(ERBB2):c.2326G>A (p.Gly776Ser) rs28933369
NM_004448.4(ERBB2):c.2328_2336dup (p.Val777_Ser779dup) rs587776805
NM_004484.4(GPC3):c.1705G>A (p.Ala569Thr) rs122453120
NM_004484.4(GPC3):c.361C>T (p.His121Tyr) rs122453119
NM_004655.4(AXIN2):c.1994del (p.Gly665fs) rs267606674
NM_004655.4(AXIN2):c.2116G>T (p.Glu706Ter) rs121908567
NM_004656.4(BAP1):c.1717del (p.Leu573fs) rs869025212
NM_004656.4(BAP1):c.79del (p.Val27fs) rs397509413
NM_004897.5(MINPP1):c.122C>T (p.Ser41Leu) rs119486096
NM_004897.5(MINPP1):c.809A>G (p.Gln270Arg) rs104894171
NM_004972.4(JAK2):c.1821G>C (p.Lys607Asn) rs121912472
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) rs121913530
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys) rs121913530
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_005157.6(ABL1):c.1052T>C (p.Met351Thr) rs121913457
NM_005157.6(ABL1):c.931T>C (p.Phe311Leu) rs137853304
NM_005188.4(CBL):c.1112A>G (p.Tyr371Cys) rs387906666
NM_005215.4(DCC):c.4124C>A (p.Pro1375His) rs387906555
NM_005215.4(DCC):c.503T>C (p.Met168Thr) rs121912967
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
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_005373.3(MPL):c.1543_1544delinsAA (p.Trp515Lys) rs121913616
NM_005475.3(SH2B3):c.603_607del (p.Arg202fs) rs587776885
NM_005612.5(REST):c.773_776del (p.Val258fs) rs869025311
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.1636C>G (p.Gln546Glu) rs121913286
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.3203dup (p.Asn1068fs) rs587776802
NM_007194.4(CHEK2):c.49G>T (p.Ala17Ser) rs137853008
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter) rs121908702
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) rs113954997
NM_013988.2(PARK2):c.(8_8)_(171_171)+180544del
NM_013988.3:c.(?_171+24726)_(424+11283_?)del
NM_015965.7(NDUFA13):c.15G>C (p.Lys5Asn) rs137852869
NM_016373.4(WWOX):c.872T>C (p.Leu291Pro) rs119487098
NM_017449.5(EPHB2):c.2164C>T (p.Gln722Ter) rs121912582
NM_017583.6(TRIM44):c.463G>A (p.Gly155Arg) rs886039241
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NM_020762.4(SRGAP1):c.823G>A (p.Ala275Thr) rs797044990
NM_020975.4(RET):c.[1896G>C;1897C>G;1900T>C]
NM_020975.4(RET):c.[2410G>A;2711C>G]
NM_020975.6(RET):c.1586_1594dup (p.Cys531_Gly532insGluGluCys) rs377767434
NM_020975.6(RET):c.1597G>T (p.Gly533Cys) rs75873440
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) rs77558292
NM_020975.6(RET):c.1833C>G (p.Cys611Trp) rs80069458
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1853G>C (p.Cys618Ser) rs79781594
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1859G>C (p.Cys620Ser) rs77503355
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) rs77503355
NM_020975.6(RET):c.1900T>G (p.Cys634Gly) rs75076352
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.1901G>C (p.Cys634Ser) rs75996173
NM_020975.6(RET):c.1901G>T (p.Cys634Phe) rs75996173
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.1919C>G (p.Ala640Gly) rs78935588
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2410G>T (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2735G>C (p.Arg912Pro) rs78347871
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021020.5(LZTS1):c.355A>G (p.Lys119Glu) rs119473032
NM_021020.5(LZTS1):c.85T>C (p.Ser29Pro) rs28937897
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_024426.6(WT1):c.1094del (p.Gly365fs) rs587776574
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) rs121907906
NM_024426.6(WT1):c.546C>A (p.Tyr182Ter) rs121907911
NM_024426.6(WT1):c.893_909del (p.Asn298fs) rs587776573
NM_024529.5(CDC73):c.128G>A (p.Trp43Ter) rs121434263
NM_024529.5(CDC73):c.13_30del (p.Leu5_Gln10del) rs587776561
NM_024529.5(CDC73):c.162C>G (p.Tyr54Ter) rs121434265
NM_024529.5(CDC73):c.375dup (p.Arg126fs) rs1572150584
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs) rs80356649
NM_024529.5(CDC73):c.685_688del (p.Arg229fs) rs760591174
NM_024529.5(CDC73):c.85del (p.Glu29fs) rs587776560
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_032977.4(CASP10):c.769C>T (p.Gln257Ter) rs121909775
NM_033360.4(KRAS):c.27_29dup (p.Gly10dup) rs606231202
NM_130439.3(MXI1):c.552+2T>C rs387906417
NM_130439.3(MXI1):c.623del (p.Lys208fs)
NM_130439.3(MXI1):c.656A>C (p.Glu219Ala) rs137852603
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_138715.3(MSR1):c.877C>T (p.Arg293Ter) rs41341748
NM_138761.4(BAX):c.121del (p.Glu41fs) rs398122840
NM_138761.4(BAX):c.121dup (p.Glu41fs) rs398122840
NM_144997.7(FLCN):c.1277_1278delinsA (p.Ile426fs)
NM_144997.7(FLCN):c.236C>G (p.Ser79Trp) rs137852930
NM_177438.3(DICER1):c.1507G>T (p.Glu503Ter) rs137852977
NM_177438.3(DICER1):c.1630C>T (p.Arg544Ter) rs137852979
NM_177438.3(DICER1):c.2392dup (p.Thr798fs) rs886037690
NM_177438.3(DICER1):c.2830C>T (p.Arg944Ter) rs137852978
NM_177438.3(DICER1):c.3611_3616delinsT (p.Tyr1204fs) rs886037651
NM_177438.3(DICER1):c.3907_3908del (p.Leu1303fs) rs886037650
NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg) rs137852976
NM_177438.3(DICER1):c.5477C>A (p.Ser1826Ter) rs1595314576
NM_182643.3(DLC1):c.2875A>G (p.Thr959Ala) rs121908500
NM_198219.3(ING1):c.575C>A (p.Ala192Asp) rs121909252
NM_198219.3(ING1):c.644G>C (p.Cys215Ser) rs121909250
NM_198219.3(ING1):c.647A>G (p.Asn216Ser) rs121909251
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys) rs879255268
NR_002196.1(H19):n.-7080_-1781del
NR_030286.1(MIR559):n.278_23134del
PALB2:c.2515-1G>T rs587776417
PDGFB, PDGFB/COL1A1 FUSION
PDGRL, 2-BP DEL
RB1, 5-BP DEL, EX8
TSG101, VAL-ALA, 1162T-C
nsv1067861
t(4;14)(p16.3;q32.3)

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