ClinVar Miner

List of variants reported as benign for bone neoplasm

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 368
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HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.614-34C>T rs11702841 0.99999
NM_003977.4(AIP):c.920= (p.Arg307=) rs4930199 0.99984
NM_058172.6(ANTXR2):c.*3695T>C rs4611863 0.98122
NM_000388.4(CASR):c.2244G>C (p.Pro748=) rs2036400 0.97432
NM_000388.4(CASR):c.*574C>G rs6438718 0.96802
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.91749
NM_000388.4(CASR):c.492+19G>A rs9869985 0.91296
NM_003977.4(AIP):c.682C>A (p.Gln228Lys) rs641081 0.84113
NM_015922.3(NSDHL):c.132T>G (p.Gly44=) rs5969919 0.83345
NM_058172.6(ANTXR2):c.*1521A>G rs7747 0.80751
NM_058172.6(ANTXR2):c.*784T>G rs1139638 0.80420
NM_058172.6(ANTXR2):c.*785T>C rs63539261 0.80416
NM_022124.6(CDH23):c.4206+131T>C rs1227061 0.77987
NM_022124.6(CDH23):c.146-125T>C rs2297953 0.74120
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) rs3184504 0.66794
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_022124.6(CDH23):c.1134+164C>G rs7903772 0.61986
NM_005188.4(CBL):c.1095+19G>T rs2510152 0.61865
NM_058172.6(ANTXR2):c.378+8A>C rs4594664 0.61456
NM_058172.6(ANTXR2):c.636+54T>A rs10745242 0.61408
NM_058172.6(ANTXR2):c.*4272C>T rs56708107 0.57619
NM_000388.4(CASR):c.1609-89C>T rs4678174 0.55250
NM_000388.4(CASR):c.*1198T>C rs10190 0.54750
NM_022124.6(CDH23):c.1135-128A>G rs10823810 0.51167
NM_207122.1(EXT2):c.-311G>A rs3923808 0.50004
NM_002451.4(MTAP):c.*3829T>C rs6475592 0.44086
NM_002451.4(MTAP):c.*884T>A rs1134871 0.44065
NM_002451.4(MTAP):c.*2365C>T rs10117550 0.43789
NM_022124.6(CDH23):c.832+101G>A rs6480531 0.42446
NM_002451.4(MTAP):c.166G>A (p.Val56Ile) rs7023954 0.42302
NM_002451.4(MTAP):c.*258A>C rs15735 0.40160
NM_022124.6(CDH23):c.5187+99T>C rs10762481 0.39527
NM_058172.6(ANTXR2):c.-82C>A rs13140055 0.38249
NM_002609.4(PDGFRB):c.3137+4A>G rs246391 0.38064
NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=) rs246388 0.36918
NM_000127.3(EXT1):c.1761G>A (p.Glu587=) rs7837891 0.36094
NM_022124.6(CDH23):c.624+64C>T rs7087735 0.34986
NM_022124.6(CDH23):c.7055-16A>G rs4747193 0.34615
NM_058172.6(ANTXR2):c.*4056T>A rs11946205 0.31619
NM_000388.4(CASR):c.*1015A>G rs9740 0.27327
NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=) rs246395 0.26470
NM_207122.2(EXT2):c.1080-18T>A rs11037882 0.26140
NM_207122.1(EXT2):c.-331T>C rs10458911 0.25844
NM_207122.2(EXT2):c.1807-51T>C rs11037909 0.25427
NM_002451.4(MTAP):c.*2085G>A rs10117507 0.24202
NM_207122.2(EXT2):c.1936-41T>C rs3740878 0.23855
NM_000127.3(EXT1):c.1065C>T (p.Cys355=) rs11546829 0.23625
NM_002451.4(MTAP):c.*3093T>C rs4977735 0.21917
NM_002451.4(MTAP):c.*3946A>C rs10965168 0.21553
NM_002451.4(MTAP):c.*2522A>G rs3802394 0.21540
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_058172.6(ANTXR2):c.-319C>G rs11557908 0.18441
NM_058172.6(ANTXR2):c.-410G>A rs72869605 0.18258
NM_000127.3(EXT1):c.1431C>T (p.Pro477=) rs17439693 0.17547
NM_000388.4(CASR):c.*1093C>T rs1802757 0.17297
NM_004364.5(CEBPA):c.690G>T (p.Thr230=) rs34529039 0.16355
NM_022124.6(CDH23):c.1449+130T>C rs2305209 0.14152
NM_058172.6(ANTXR2):c.*1671T>G rs2760 0.11504
NM_002834.3(PTPN11):c.-273G>A rs58805176 0.10884
NM_058172.6(ANTXR2):c.*5602C>G rs4331719 0.10728
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10682
NM_002451.4(MTAP):c.*536G>A rs1134870 0.09270
NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=) rs2228440 0.09078
NM_198253.3(TERT):c.3039C>T (p.His1013=) rs33954691 0.08834
NM_207122.2(EXT2):c.-31+7G>T rs58861092 0.08791
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636 0.08688
NM_058172.6(ANTXR2):c.*28C>T rs61048419 0.08261
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) rs17110944 0.07088
NM_058172.6(ANTXR2):c.1395G>A (p.Arg465=) rs35798108 0.06853
NM_000388.4(CASR):c.*1235A>G rs34042920 0.06757
NM_000127.3(EXT1):c.-722T>C rs192302720 0.06363
NM_058172.6(ANTXR2):c.-230_-229del rs80314910 0.06101
NM_002451.4(MTAP):c.561C>T (p.Arg187=) rs10965163 0.05936
NM_002834.5(PTPN11):c.14+25G>C rs7972574 0.05545
NM_002834.5(PTPN11):c.854-21C>T rs41279090 0.05308
NM_002451.4(MTAP):c.*797C>T rs58555715 0.05202
NM_005373.3(MPL):c.690A>G (p.Glu230=) rs16830693 0.05134
NM_001754.5(RUNX1):c.1389C>G (p.Pro463=) rs61750222 0.04709
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_002834.5(PTPN11):c.14+54C>A rs7973432 0.04259
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_000127.3(EXT1):c.-266C>T rs76805972 0.04072
NM_058172.6(ANTXR2):c.*1663G>A rs113322831 0.03500
NM_005188.4(CBL):c.2592C>T (p.Leu864=) rs1893177 0.03391
NM_003977.4(AIP):c.516C>T (p.Asp172=) rs2276020 0.03152
NM_002451.4(MTAP):c.*3916C>T rs80226037 0.02945
NM_002451.4(MTAP):c.*2539A>G rs10123713 0.02620
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met) rs74943037 0.02595
NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=) rs56072663 0.02433
NM_003977.4(AIP):c.132C>T (p.Asp44=) rs11822907 0.02357
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_198253.3(TERT):c.2031C>T (p.Gly677=) rs33956095 0.02136
NM_000127.3(EXT1):c.-635C>T rs188740055 0.02060
NM_002451.4(MTAP):c.*2255A>G rs79020697 0.02054
NM_005188.4(CBL):c.869+4A>G rs77284821 0.02038
NM_004364.5(CEBPA):c.573C>T (p.His191=) rs192240793 0.02004
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys) rs41287110 0.01976
NM_058172.6(ANTXR2):c.*677C>T rs149404014 0.01921
NM_024529.5(CDC73):c.*1267A>G rs78218016 0.01764
NM_198253.3(TERT):c.1950+10C>T rs33948291 0.01758
NM_000127.3(EXT1):c.114A>G (p.Glu38=) rs17506447 0.01623
NM_058172.6(ANTXR2):c.-590A>T rs142313419 0.01544
NM_000127.3(EXT1):c.-509C>G rs78824154 0.01491
NM_207122.2(EXT2):c.124A>G (p.Met42Val) rs4755779 0.01478
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789 0.01436
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_058172.6(ANTXR2):c.225-4G>A rs141355689 0.01410
NM_002451.4(MTAP):c.*657T>C rs146095448 0.01370
NM_207122.2(EXT2):c.264C>T (p.His88=) rs35455466 0.01345
NM_207122.2(EXT2):c.1761G>A (p.Thr587=) rs16937864 0.01303
NM_002451.4(MTAP):c.*2873C>T rs75664572 0.01292
NM_207122.2(EXT2):c.999T>C (p.Asp333=) rs61733300 0.01271
NM_024529.5(CDC73):c.*580A>T rs191600804 0.01264
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
NM_002451.4(MTAP):c.*3851C>G rs76751525 0.01197
NM_058172.6(ANTXR2):c.331C>T (p.Arg111Cys) rs61741646 0.01167
NM_207122.2(EXT2):c.1174-18G>T rs143595300 0.01161
NM_024529.5(CDC73):c.*2950A>G rs144681513 0.01153
NM_024529.5(CDC73):c.*3507G>T rs151216299 0.01140
NM_001754.5(RUNX1):c.927C>T (p.Gly309=) rs59802347 0.01119
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_058172.6(ANTXR2):c.796+9C>T rs113482034 0.01026
NM_002451.4(MTAP):c.*1181A>G rs182505150 0.00948
NM_207122.2(EXT2):c.1017T>C (p.Cys339=) rs11828047 0.00930
NM_002451.4(MTAP):c.*3144G>A rs148910202 0.00907
NM_002609.4(PDGFRB):c.102C>T (p.Val34=) rs17708515 0.00869
NM_198253.3(TERT):c.1659C>T (p.Val553=) rs35809415 0.00838
NM_002451.4(MTAP):c.*1341C>T rs111408881 0.00837
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558 0.00834
NM_005373.3(MPL):c.543T>C (p.Gly181=) rs17572791 0.00819
NM_207122.2(EXT2):c.*472C>T rs74424177 0.00819
NM_004364.5(CEBPA):c.693C>G (p.Pro231=) rs550308123 0.00808
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=) rs2228439 0.00793
NM_058172.6(ANTXR2):c.808G>A (p.Val270Ile) rs113707133 0.00790
NM_004364.5(CEBPA):c.756G>T (p.Ala252=) rs571969199 0.00778
NM_004364.5(CEBPA):c.1041G>A (p.Glu347=) rs141430731 0.00752
NM_005188.4(CBL):c.513T>C (p.Ser171=) rs2227987 0.00741
NM_198253.3(TERT):c.2097C>T (p.Ala699=) rs33963617 0.00739
NM_058172.6(ANTXR2):c.*5547T>C rs114779758 0.00613
NM_005373.3(MPL):c.1309-10C>T rs139486615 0.00602
NM_003977.4(AIP):c.*64G>A rs115346238 0.00596
NM_002609.4(PDGFRB):c.365-4G>T rs139448702 0.00583
NM_003977.4(AIP):c.*60G>C rs146014363 0.00566
NM_000127.3(EXT1):c.117A>G (p.Glu39=) rs78429222 0.00558
NM_002451.4(MTAP):c.*1936C>T rs117552951 0.00557
NM_005188.4(CBL):c.1485G>A (p.Pro495=) rs2229072 0.00547
NM_003977.4(AIP):c.891C>A (p.Ala297=) rs35665586 0.00545
NM_207122.2(EXT2):c.1110G>T (p.Met370Ile) rs34084767 0.00538
NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val) rs149417689 0.00523
NM_002451.4(MTAP):c.768T>G (p.Pro256=) rs62556500 0.00511
NM_024529.5(CDC73):c.1185A>G (p.Gln395=) rs116358657 0.00511
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_002451.4(MTAP):c.*393G>C rs78389853 0.00498
NM_002451.4(MTAP):c.*1643G>T rs79546636 0.00491
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00482
NM_207122.2(EXT2):c.-148G>A rs115238130 0.00479
NM_001754.5(RUNX1):c.183G>A (p.Pro61=) rs76558016 0.00454
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_058172.6(ANTXR2):c.*1558C>T rs150281545 0.00454
NM_024529.5(CDC73):c.*2304T>G rs144363422 0.00424
NM_000127.3(EXT1):c.1959G>A (p.Glu653=) rs142710059 0.00404
NM_001754.5(RUNX1):c.351+15A>G rs199881885 0.00396
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_207122.2(EXT2):c.*56G>A rs77554103 0.00371
NM_005373.3(MPL):c.1653+3G>A rs149625825 0.00367
NM_003977.4(AIP):c.100-18C>T rs202156895 0.00359
NM_002451.4(MTAP):c.*3862C>T rs560167088 0.00339
NM_004364.5(CEBPA):c.402G>A (p.Ala134=) rs752254340 0.00295
NM_002451.4(MTAP):c.*707A>G rs138936486 0.00275
NM_002451.4(MTAP):c.*1038A>G rs180861815 0.00264
NM_002451.4(MTAP):c.*804T>C rs142144597 0.00253
NM_024529.5(CDC73):c.308-16C>A rs201766013 0.00252
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
NM_005188.4(CBL):c.869+19A>G rs181589369 0.00232
NM_000127.3(EXT1):c.-324C>G rs144282710 0.00224
NM_198253.3(TERT):c.969G>A (p.Pro323=) rs148549782 0.00224
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_024529.5(CDC73):c.*2085G>C rs150030810 0.00217
NM_004364.5(CEBPA):c.612G>C (p.Pro204=) rs552634598 0.00214
NM_001754.5(RUNX1):c.303G>T (p.Val101=) rs142472642 0.00200
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00196
NM_024529.5(CDC73):c.*518A>G rs190433473 0.00195
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_207122.2(EXT2):c.2019-14T>C rs141747687 0.00173
NM_002451.4(MTAP):c.*3307G>T rs41270139 0.00172
NM_002451.4(MTAP):c.*895G>A rs41270137 0.00170
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467 0.00166
NM_207122.2(EXT2):c.918C>T (p.Phe306=) rs35436405 0.00139
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_024529.5(CDC73):c.-95G>A rs143969598 0.00133
NM_207122.2(EXT2):c.*646C>T rs189528648 0.00131
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173 0.00128
NM_000127.3(EXT1):c.1633-26C>A rs188609829 0.00123
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_198253.3(TERT):c.2769G>A (p.Pro923=) rs200174990 0.00118
NM_003977.4(AIP):c.68G>A (p.Gly23Glu) rs116940576 0.00115
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln) rs138187791 0.00113
NM_002451.4(MTAP):c.691-13A>G rs77412364 0.00093
NM_198253.3(TERT):c.1884C>T (p.Asp628=) rs143992655 0.00088
NM_207122.2(EXT2):c.1641C>T (p.Asp547=) rs75987184 0.00088
NM_003977.4(AIP):c.-84C>G rs540839310 0.00086
NM_003977.4(AIP):c.301G>A (p.Val101Met) rs147931650 0.00085
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00083
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_207122.2(EXT2):c.965G>A (p.Arg322His) rs149727518 0.00076
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00073
NM_001754.5(RUNX1):c.1086G>C (p.Ser362=) rs143947839 0.00072
NM_005373.3(MPL):c.962G>A (p.Arg321Gln) rs149265851 0.00072
NM_024529.5(CDC73):c.*3524A>G rs548190260 0.00071
NM_024529.5(CDC73):c.1032T>G (p.Val344=) rs148612206 0.00070
NM_207122.2(EXT2):c.358G>A (p.Val120Ile) rs115948531 0.00070
NM_000127.3(EXT1):c.1359C>T (p.Phe453=) rs148922894 0.00067
NM_003977.4(AIP):c.-23A>G rs200665479 0.00064
NM_000127.3(EXT1):c.741G>A (p.Glu247=) rs148473091 0.00063
NM_001754.5(RUNX1):c.654C>T (p.Ser218=) rs145230602 0.00063
NM_002451.4(MTAP):c.*2238C>T rs150727017 0.00063
NM_000127.3(EXT1):c.1782G>A (p.Ala594=) rs61753261 0.00058
NM_207122.2(EXT2):c.1005A>G (p.Leu335=) rs141977888 0.00058
NM_000127.3(EXT1):c.1779C>T (p.Pro593=) rs143881630 0.00056
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_005373.3(MPL):c.793C>T (p.Leu265Phe) rs117656396 0.00053
NM_002451.4(MTAP):c.*1065A>G rs187215052 0.00049
NM_002451.4(MTAP):c.*328T>C rs150414950 0.00048
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu) rs147753803 0.00048
NM_002834.5(PTPN11):c.1379+20C>T rs184743462 0.00047
NM_000127.3(EXT1):c.1536+7G>A rs200128437 0.00041
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=) rs544247912 0.00040
NM_003977.4(AIP):c.36G>A (p.Gly12=) rs79662690 0.00038
NM_002451.4(MTAP):c.*1729G>A rs182527165 0.00036
NM_207122.2(EXT2):c.744-10T>G rs200943294 0.00036
NM_207122.2(EXT2):c.150C>T (p.Ile50=) rs138982530 0.00035
NM_003977.4(AIP):c.517G>A (p.Glu173Lys) rs138902236 0.00034
NM_207122.2(EXT2):c.260T>G (p.Met87Arg) rs140075817 0.00031
NM_002451.4(MTAP):c.653C>T (p.Ala218Val) rs143080527 0.00030
NM_015922.3(NSDHL):c.*129C>T rs145978994 0.00030
NM_207122.2(EXT2):c.1806+11G>A rs372517964 0.00029
NM_000127.3(EXT1):c.99C>T (p.Ser33=) rs147654656 0.00028
NM_207122.2(EXT2):c.1425A>G (p.Glu475=) rs533065326 0.00027
NM_002451.4(MTAP):c.121-10T>C rs201864201 0.00026
NM_002451.4(MTAP):c.179+12T>A rs369294437 0.00025
NM_005373.3(MPL):c.1794C>T (p.Cys598=) rs143457144 0.00025
NM_207122.2(EXT2):c.1645C>T (p.Leu549=) rs142565472 0.00025
NM_024529.5(CDC73):c.-10G>T rs188082584 0.00024
NM_002451.4(MTAP):c.39A>C (p.Gly13=) rs139020435 0.00023
NM_207122.2(EXT2):c.1080-16T>G rs377582390 0.00023
NM_004364.5(CEBPA):c.561G>C (p.Pro187=) rs538441046 0.00022
NM_000388.4(CASR):c.*87C>T rs202045621 0.00020
NM_207122.2(EXT2):c.896G>A (p.Arg299His) rs76901081 0.00020
NM_002451.4(MTAP):c.566G>T (p.Trp189Leu) rs184520335 0.00019
NM_024529.5(CDC73):c.*1833A>G rs150894778 0.00018
NM_207122.2(EXT2):c.1554G>A (p.Lys518=) rs144238557 0.00018
NM_000127.3(EXT1):c.909C>G (p.Asp303Glu) rs1176457130 0.00016
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116 0.00016
NM_003977.4(AIP):c.753G>A (p.Leu251=) rs147351993 0.00016
NM_004364.5(CEBPA):c.811G>C (p.Ala271Pro) rs756632245 0.00015
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys) rs146098187 0.00014
NM_001370259.2(MEN1):c.913-42G>C rs529037188 0.00013
NM_024529.5(CDC73):c.*2427T>C rs372585994 0.00013
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_000127.3(EXT1):c.1680C>T (p.Ala560=) rs540101738 0.00010
NM_002451.4(MTAP):c.-5C>G rs375344882 0.00010
NM_024529.5(CDC73):c.*2677G>A rs192018514 0.00010
NM_000127.3(EXT1):c.-500T>G rs372210548 0.00009
NM_000127.3(EXT1):c.1117A>G (p.Asn373Asp) rs142122090 0.00009
NM_002451.4(MTAP):c.136A>C (p.Ile46Leu) rs750076531 0.00009
NM_002834.5(PTPN11):c.486C>T (p.Asp162=) rs397507522 0.00009
NM_024529.5(CDC73):c.*1499T>A rs138503809 0.00009
NM_000127.3(EXT1):c.1457C>T (p.Ala486Val) rs188859975 0.00008
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_000127.3(EXT1):c.1161A>G (p.Leu387=) rs200256697 0.00007
NM_207122.2(EXT2):c.605C>T (p.Ala202Val) rs771803942 0.00007
NM_002451.4(MTAP):c.315C>T (p.Gly105=) rs147319145 0.00006
NM_024529.5(CDC73):c.*1083A>T rs367704451 0.00006
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp) rs540229057 0.00006
NM_207122.2(EXT2):c.201G>A (p.Pro67=) rs201374853 0.00006
NM_000127.3(EXT1):c.2178C>T (p.Pro726=) rs557560039 0.00005
NM_002834.5(PTPN11):c.990A>C (p.Thr330=) rs369739920 0.00005
NM_002451.4(MTAP):c.*1225G>A rs556119629 0.00004
NM_002451.4(MTAP):c.603G>A (p.Glu201=) rs189392570 0.00004
NM_207122.2(EXT2):c.1663-16A>G rs201032203 0.00004
NM_207122.2(EXT2):c.1806+10C>T rs200520590 0.00004
NM_207122.2(EXT2):c.940-18C>G rs375536301 0.00004
NM_207122.2(EXT2):c.996C>T (p.Ser332=) rs142692757 0.00004
NM_000127.3(EXT1):c.1305C>A (p.Phe435Leu) rs183760697 0.00003
NM_000127.3(EXT1):c.1503C>G (p.Leu501=) rs146108006 0.00003
NM_002451.4(MTAP):c.*606A>G rs566061531 0.00003
NM_002451.4(MTAP):c.111A>G (p.Pro37=) rs774955664 0.00003
NM_207122.2(EXT2):c.1023G>A (p.Pro341=) rs757323768 0.00003
NM_207122.2(EXT2):c.1681G>C (p.Asp561His) rs151291188 0.00003
NM_001042492.3(NF1):c.6819+11C>T rs201213225 0.00002
NM_003977.4(AIP):c.366C>T (p.Cys122=) rs748883061 0.00002
NM_000127.3(EXT1):c.2100G>A (p.Gln700=) rs747703304 0.00001
NM_001370259.2(MEN1):c.784-129T>A rs536461697 0.00001
NM_002451.4(MTAP):c.*17A>G rs553057304 0.00001
NM_002451.4(MTAP):c.*2188C>T rs117300281 0.00001
NM_002834.5(PTPN11):c.996C>T (p.Gly332=) rs397507533 0.00001
NM_003977.4(AIP):c.100-6C>A rs539027647 0.00001
NM_003977.4(AIP):c.144C>T (p.Thr48=) rs772658134 0.00001
NM_003977.4(AIP):c.571C>T (p.Arg191Cys) rs189861025 0.00001
NM_004364.5(CEBPA):c.459G>A (p.Pro153=) rs779373951 0.00001
NM_022552.5(DNMT3A):c.120G>A (p.Glu40=) rs202118149 0.00001
NM_024529.5(CDC73):c.*3063G>A rs182545034 0.00001
NM_024529.5(CDC73):c.534A>G (p.Ser178=) rs150365980 0.00001
NM_207122.2(EXT2):c.*3C>T rs542907948 0.00001
NM_207122.2(EXT2):c.1123A>G (p.Ser375Gly) rs369029338 0.00001
NM_207122.2(EXT2):c.1126A>G (p.Ile376Val) rs1465688101 0.00001
NM_000127.3(EXT1):c.1057-12dup rs775982542
NM_000127.3(EXT1):c.1537-16G>A
NM_000127.3(EXT1):c.962+8_962+11del rs138812713
NM_000388.4(CASR):c.*188dup rs33974189
NM_000388.4(CASR):c.*60A>T rs4677948
NM_000388.4(CASR):c.78C>G (p.Ala26=) rs77852524
NM_000546.6(TP53):c.805A>T (p.Ser269Cys)
NM_000546.6(TP53):c.952C>T (p.Pro318Ser)
NM_000546.6(TP53):c.954A>T (p.Pro318=)
NM_000546.6(TP53):c.969G>C (p.Leu323=)
NM_000546.6(TP53):c.970G>A (p.Asp324Asn)
NM_000546.6(TP53):c.978A>G (p.Glu326=)
NM_001370259.2(MEN1):c.1212C>G (p.Leu404=) rs577268289
NM_002451.4(MTAP):c.*15C>A rs754086497
NM_002451.4(MTAP):c.*1622del rs11358276
NM_002451.4(MTAP):c.*2279T>G rs529226542
NM_002451.4(MTAP):c.*2348dup rs397972510
NM_002451.4(MTAP):c.*259C>A rs78195856
NM_002451.4(MTAP):c.*775dup rs58147941
NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_003025.4(SH3GL1):c.771C>G (p.Pro257=) rs243261
NM_004364.5(CEBPA):c.296GCG[7] (p.Gly104dup) rs780345232
NM_004364.5(CEBPA):c.296GCG[8] (p.Gly103_Gly104dup) rs780345232
NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4]) rs762459325
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005188.4(CBL):c.1629A>G (p.Pro543=) rs558577411
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_005373.3(MPL):c.1566-3del rs780125200
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_024529.5(CDC73):c.*3786T>A rs74130943
NM_024529.5(CDC73):c.*3786T>C rs74130943
NM_024529.5(CDC73):c.1418-17C>G rs11583414
NM_024529.5(CDC73):c.237+28T>C rs4466634
NM_058172.6(ANTXR2):c.*336C>T rs4690108
NM_058172.6(ANTXR2):c.1042-114G>A rs4444771
NM_058172.6(ANTXR2):c.1068C>A (p.Pro356=) rs72653288
NM_058172.6(ANTXR2):c.1068C>G (p.Pro356=) rs72653288
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro) rs12647691
NM_058172.6(ANTXR2):c.637-10del rs373672335
NM_207122.2(EXT2):c.*795C>A rs76505631
NM_207122.2(EXT2):c.*802A>G rs531942530
NM_207122.2(EXT2):c.-197C>G rs78395259
NM_207122.2(EXT2):c.-61C>G rs12800404
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln) rs753542290
NM_207122.2(EXT2):c.143A>T (p.His48Leu) rs1590547374
NM_207122.2(EXT2):c.1806+9del rs372901342
NM_207122.2(EXT2):c.28C>A (p.Arg10=) rs4755228
NM_207122.2(EXT2):c.519G>C (p.Ala173=) rs148121594
NM_207122.2(EXT2):c.520A>C (p.Met174Leu) rs111589746
NM_207122.2(EXT2):c.744-10dup

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