ClinVar Miner

List of variants studied for cardiovascular neoplasm

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 438
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HGVS dbSNP gnomAD frequency
NM_002253.4(KDR):c.3848+15T>C rs2412617 0.99680
NM_133171.5(ELMO2):c.1980T>C (p.Asp660=) rs2257495 0.98384
NM_005401.5(PTPN14):c.-26G>A rs10864100 0.83031
NM_005401.5(PTPN14):c.2688+26C>T rs3013451 0.82386
NM_005401.5(PTPN14):c.978A>G (p.Arg326=) rs7550799 0.82382
NM_005401.5(PTPN14):c.3252A>G (p.Glu1084=) rs1135352 0.81332
NC_000007.14:g.22727026C>G rs1800795 0.70949
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_032208.3(ANTXR1):c.1185+16C>A rs6749826 0.45542
NM_005401.5(PTPN14):c.758+5T>G rs11580603 0.37880
NM_005401.5(PTPN14):c.*26G>A rs2291831 0.15689
NM_002253.4(KDR):c.1444T>C (p.Cys482Arg) rs34231037 0.02299
NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=) rs3730349 0.01815
NM_133171.5(ELMO2):c.963G>A (p.Arg321=) rs41310805 0.01127
NM_000791.4(DHFR):c.-416C>G rs2001675 0.00949
NM_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=) rs74863634 0.00405
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser) rs34255532 0.00275
NM_002734.5(PRKAR1A):c.1029C>T (p.Gly343=) rs1803241 0.00265
NM_133171.5(ELMO2):c.1134G>A (p.Leu378=) rs8124302 0.00264
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_032208.3(ANTXR1):c.1553C>T (p.Ala518Val) rs139807657 0.00253
NM_002253.4(KDR):c.2312C>T (p.Thr771Met) rs149745504 0.00198
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys) rs148223897 0.00048
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00028
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_002734.5(PRKAR1A):c.489T>C (p.Thr163=) rs143672551 0.00021
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_002734.5(PRKAR1A):c.156A>G (p.Glu52=) rs141432364 0.00012
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu) rs200088377 0.00012
NM_002734.5(PRKAR1A):c.381T>C (p.Ala127=) rs372669687 0.00011
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00011
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_002734.5(PRKAR1A):c.502+12_502+13del rs764075585 0.00009
NM_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys) rs146383819 0.00006
NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser) rs577890523 0.00006
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_000546.6(TP53):c.460G>A (p.Gly154Ser) rs137852789 0.00004
NM_001146079.2(CLDN14):c.427G>A (p.Val143Met) rs776564488 0.00004
NM_001291303.3(FAT4):c.9273C>A (p.Phe3091Leu) rs748266278 0.00004
NM_002734.5(PRKAR1A):c.549+20A>G rs981055703 0.00004
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_000551.4(VHL):c.628C>T (p.Arg210Trp) rs774380450 0.00003
NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser) rs1332140763 0.00003
NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser) rs121917766 0.00003
NM_000546.6(TP53):c.-12C>T rs375229869 0.00002
NM_000546.6(TP53):c.466C>T (p.Arg156Cys) rs563378859 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001395002.1(MAP4K4):c.1694G>A (p.Arg565Gln) rs781410462 0.00002
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
NM_133171.5(ELMO2):c.1416+9C>G rs770529533 0.00002
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.1001G>A (p.Gly334Glu) rs1286563734 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.1048C>G (p.Leu350Val) rs768046010 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639 0.00001
NM_000546.6(TP53):c.38C>T (p.Pro13Leu) rs878854070 0.00001
NM_000546.6(TP53):c.393C>A (p.Asn131Lys) rs769270327 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.461G>A (p.Gly154Asp) rs762846821 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) rs587782596 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.560-1G>A rs1202793339 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.760A>G (p.Ile254Val) rs746601313 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.848G>A (p.Arg283His) rs371409680 0.00001
NM_002473.6(MYH9):c.5308C>T (p.Arg1770Cys) rs1430793034 0.00001
NM_002734.5(PRKAR1A):c.1025G>A (p.Arg342His) rs760033566 0.00001
NM_002734.5(PRKAR1A):c.549+10A>C rs751413552 0.00001
NM_004444.5(EPHB4):c.1405G>A (p.Val469Ile) rs775083333 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe) rs121913538 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_007217.4(PDCD10):c.474+5G>A rs1553759139 0.00001
NM_012433.4(SF3B1):c.1873C>G (p.Arg625Gly) rs775623976 0.00001
NM_017617.5(NOTCH1):c.5674G>A (p.Gly1892Arg) rs761427888 0.00001
NM_024870.4(PREX2):c.3355G>A (p.Ala1119Thr) rs778089198 0.00001
NM_032208.3(ANTXR1):c.976G>A (p.Ala326Thr) rs119475040 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_133171.5(ELMO2):c.1065+1G>A rs768410753 0.00001
NM_133171.5(ELMO2):c.1447C>T (p.Arg483Ter) rs1372506599 0.00001
46;XX;ins(3;1)(q23;p22p32)dn
46;XX;t(4;14)(p15.2;q13)dn
46;XX;t(6;17)(q13;q21)dn
46;XY;inv(6)(p22q13)dn
46;XY;t(1;4)(q32;q11)
46;XY;t(7;13)(p15.3;q14.1)dn
GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3
GRCh37/hg19 15q11.2(chr15:22770421-23082328)x1
GRCh37/hg19 8q23.3(chr8:114378494-114450308)
NM_000051.4(ATM):c.1837_1839del (p.Val613del) rs2135353566
NM_000077.5(CDKN2A):c.50C>G (p.Ala17Gly)
NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg) rs121913474
NM_000179.3(MSH6):c.3644T>A (p.Leu1215Ter) rs2104526529
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser) rs886039394
NM_000249.4(MLH1):c.884G>T (p.Ser295Ile) rs63750144
NM_000268.4(NF2):c.575A>G (p.Tyr192Cys) rs1555993319
NM_000271.5(NPC1):c.1315A>G (p.Ile439Val) rs933640981
NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter) rs1057520900
NM_000362.5(TIMP3):c.311T>C (p.Leu104Pro) rs1555985260
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000420.3(KEL):c.604G>A (p.Gly202Ser) rs2116680039
NM_000420.3(KEL):c.961C>T (p.Gln321Ter) rs980885552
NM_000459.5(TEK):c.3314_3315delinsTGACCT (p.Thr1105fs) rs2131267739
NM_000489.6(ATRX):c.3904del (p.Arg1302fs) rs2148497062
NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter) rs2148020083
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) rs121913495
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys) rs587782529
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.1029G>C (p.Glu343Asp)
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.6(TP53):c.1081G>C (p.Gly361Arg) rs1555524361
NM_000546.6(TP53):c.1120G>A (p.Gly374Ser) rs587781858
NM_000546.6(TP53):c.1140del (p.His380fs) rs1555524108
NM_000546.6(TP53):c.1145A>C (p.Lys382Thr) rs2072835191
NM_000546.6(TP53):c.158G>A (p.Trp53Ter) rs876658483
NM_000546.6(TP53):c.159G>A (p.Trp53Ter) rs1064794618
NM_000546.6(TP53):c.245_260del (p.Pro82fs)
NM_000546.6(TP53):c.272G>A (p.Trp91Ter) rs2073465664
NM_000546.6(TP53):c.322G>A (p.Gly108Ser) rs587782461
NM_000546.6(TP53):c.322G>C (p.Gly108Arg) rs587782461
NM_000546.6(TP53):c.329G>C (p.Arg110Pro) rs11540654
NM_000546.6(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.6(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.6(TP53):c.375G>C (p.Thr125=) rs55863639
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.388C>G (p.Leu130Val) rs863224683
NM_000546.6(TP53):c.389T>C (p.Leu130Pro) rs1131691013
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.6(TP53):c.395A>C (p.Lys132Thr) rs1057519996
NM_000546.6(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.403T>A (p.Cys135Ser) rs1057519975
NM_000546.6(TP53):c.403T>C (p.Cys135Arg) rs1057519975
NM_000546.6(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.6(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.6(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.6(TP53):c.406C>T (p.Gln136Ter)
NM_000546.6(TP53):c.413C>T (p.Ala138Val) rs750600586
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.440T>A (p.Val147Asp) rs1453167097
NM_000546.6(TP53):c.445T>C (p.Ser149Pro)
NM_000546.6(TP53):c.448_460del (p.Thr150fs) rs1064792930
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.6(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.6(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000546.6(TP53):c.475_481dup (p.Ala161fs) rs863223301
NM_000546.6(TP53):c.476C>T (p.Ala159Val) rs1555526131
NM_000546.6(TP53):c.47A>G (p.Gln16Arg) rs2073520057
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.6(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_000546.6(TP53):c.48G>C (p.Gln16His) rs1597376489
NM_000546.6(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.6(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.6(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.6(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.532del (p.His178fs) rs786202525
NM_000546.6(TP53):c.533A>C (p.His178Pro) rs1555526004
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.559+5G>C rs1555525956
NM_000546.6(TP53):c.574C>G (p.Gln192Glu)
NM_000546.6(TP53):c.575A>G (p.Gln192Arg) rs730882002
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.617T>G (p.Leu206Trp)
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.6(TP53):c.638G>T (p.Arg213Leu) rs587778720
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.6(TP53):c.671A>G (p.Glu224Gly) rs1131691028
NM_000546.6(TP53):c.672+1G>A rs863224499
NM_000546.6(TP53):c.677G>C (p.Gly226Ala) rs970212462
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_000546.6(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser) rs587780073
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.711G>T (p.Met237Ile) rs587782664
NM_000546.6(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.6(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.6(TP53):c.717del (p.Asn239fs)
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.722_728del (p.Ser241fs)
NM_000546.6(TP53):c.728T>C (p.Met243Thr) rs730882006
NM_000546.6(TP53):c.72dup (p.Leu25fs) rs2151047224
NM_000546.6(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.6(TP53):c.748C>G (p.Pro250Ala)
NM_000546.6(TP53):c.783-10T>G
NM_000546.6(TP53):c.799C>G (p.Arg267Gly)
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.809T>G (p.Phe270Cys) rs1057519986
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.6(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_000546.6(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.6(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.6(TP53):c.835G>A (p.Gly279Arg) rs1555525248
NM_000546.6(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.6(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.845G>T (p.Arg282Leu) rs730882008
NM_000546.6(TP53):c.851C>G (p.Thr284Arg)
NM_000546.6(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_000546.6(TP53):c.871A>G (p.Lys291Glu) rs1555525126
NM_000546.6(TP53):c.876A>T (p.Lys292Asn)
NM_000546.6(TP53):c.893A>C (p.Glu298Ala)
NM_000546.6(TP53):c.934A>G (p.Thr312Ala)
NM_000546.6(TP53):c.950A>T (p.Gln317Leu) rs1159579789
NM_000546.6(TP53):c.96+1G>T rs1131691003
NM_000546.6(TP53):c.965C>G (p.Pro322Arg)
NM_000546.6(TP53):c.967C>G (p.Leu323Val)
NM_000546.6(TP53):c.97-11C>G rs769697802
NM_000546.6(TP53):c.974G>A (p.Gly325Glu) rs121912659
NM_000546.6(TP53):c.978A>T (p.Glu326Asp) rs1000256867
NM_000546.6(TP53):c.97_99del (p.Ser33del)
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000551.4(VHL):c.530_536del (p.Arg177fs) rs1575932266
NM_000969.5(RPL5):c.74-1G>C rs1553284997
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_001114753.3(ENG):c.920dup (p.Asn307fs) rs1554810174
NM_001123385.2(BCOR):c.398_399insAC (p.Ala134fs) rs1555919960
NM_001123385.2(BCOR):c.4063G>T (p.Glu1355Ter) rs780712297
NM_001123385.2(BCOR):c.4787_4802del (p.Gly1596fs) rs1555913337
NM_001146079.2(CLDN14):c.116_118del (p.Asn39del)
NM_001146079.2(CLDN14):c.337G>C (p.Ala113Pro) rs138631461
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs) rs782297546
NM_001243133.2(NLRP3):c.29G>T (p.Arg10Met) rs2103083622
NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys)
NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr) rs1554047435
NM_001291303.3(FAT4):c.13985C>G (p.Ala4662Gly) rs1727604042
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) rs867384286
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys) rs867384286
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His) rs1057519895
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro) rs1057519895
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu) rs1057519895
NM_001367977.2(SCUBE2):c.2057G>A (p.Cys686Tyr) rs1555238867
NM_001374828.1(ARID1B):c.4453C>T (p.Gln1485Ter) rs2128366503
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter) rs797045283
NM_001412.4(EIF1AX):c.17G>T (p.Gly6Val)
NM_001455.4(FOXO3):c.583A>T (p.Lys195Ter) rs1554209779
NM_001530.4(HIF1A):c.1369G>A (p.Glu457Lys)
NM_001530.4(HIF1A):c.148G>C (p.Val50Leu)
NM_001530.4(HIF1A):c.1961C>T (p.Ala654Val)
NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser) rs1555630396
NM_001844.5(COL2A1):c.1955A>G (p.Glu652Gly) rs2136556852
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) rs121913399
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.4(CTNNB1):c.101G>C (p.Gly34Ala) rs28931589
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.122C>A (p.Thr41Asn) rs121913413
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) rs121913413
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) rs121913409
NM_001904.4(CTNNB1):c.134C>G (p.Ser45Cys) rs121913409
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_002060.3(GJA4):c.121G>T (p.Gly41Cys) rs1640240555
NM_002107.7(H3-3A):c.100G>C (p.Gly34Arg) rs1057519902
NM_002253.4(KDR):c.1136C>T (p.Ala379Val)
NM_002253.4(KDR):c.3006G>C (p.Leu1002Phe)
NM_002253.4(KDR):c.3663T>C (p.Ser1221=)
NM_002401.5(MAP3K3):c.1323C>G (p.Ile441Met) rs2143631386
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.191_196dup (p.Ser65_Ala66insAspSer)
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys) rs1555815121
NM_002734.5(PRKAR1A):c.25A>G (p.Ser9Gly) rs778468626
NM_002734.5(PRKAR1A):c.424GAT[1] (p.Asp143del) rs1308936763
NM_002734.5(PRKAR1A):c.440+15T>C rs78183210
NM_002734.5(PRKAR1A):c.464C>T (p.Ser155Leu) rs1568696484
NM_002734.5(PRKAR1A):c.503-13dup rs138285568
NM_002734.5(PRKAR1A):c.550G>A (p.Val184Ile) rs773162575
NM_002734.5(PRKAR1A):c.618_621del (p.Ile206fs) rs281864791
NM_002734.5(PRKAR1A):c.691T>C (p.Tyr231His) rs2143324114
NM_002734.5(PRKAR1A):c.709-7_709-2del rs281864801
NM_002734.5(PRKAR1A):c.770-9G>T rs562094333
NM_002734.5(PRKAR1A):c.797C>T (p.Thr266Met) rs1329426125
NM_002890.3(RASA1):c.1657dup (p.Tyr553fs) rs2112474795
NM_002890.3(RASA1):c.475_476del (p.Leu159fs) rs797044451
NM_003002.4(SDHD):c.1A>G (p.Met1Val) rs104894307
NM_003070.5(SMARCA2):c.2564G>T (p.Arg855Leu) rs1471482709
NM_003070.5(SMARCA2):c.3638G>C (p.Arg1213Pro) rs1314729940
NM_003072.5(SMARCA4):c.276G>C (p.Gln92His) rs1555752030
NM_003073.5(SMARCB1):c.110G>C (p.Arg37Pro) rs398122368
NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter) rs1565779530
NM_003482.4(KMT2D):c.15689G>A (p.Cys5230Tyr) rs2137715091
NM_004297.4(GNA14):c.215C>T (p.Thr72Met)
NM_004297.4(GNA14):c.356T>C (p.Met119Thr)
NM_004297.4(GNA14):c.614A>T (p.Gln205Leu) rs1554685903
NM_004297.4(GNA14):c.817G>C (p.Asp273His)
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1906C>T (p.Gln636Ter) rs1585998247
NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly) rs398124146
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His) rs1057519884
NM_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu) rs1057519884
NM_004444.5(EPHB4):c.1295_1296del (p.Glu432fs) rs2116449991
NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly) rs146937374
NM_004444.5(EPHB4):c.2600T>C (p.Phe867Ser) rs2116413948
NM_004557.4(NOTCH4):c.4855C>A (p.Leu1619Met) rs755664291
NM_004656.4(BAP1):c.188C>G (p.Ser63Cys) rs747311942
NM_004656.4(BAP1):c.374A>C (p.Glu125Ala) rs1553645926
NM_004972.4(JAK2):c.2385G>T (p.Arg795Ser) rs1819621092
NM_004985.5(KRAS):c.112-9C>T rs727504298
NM_004985.5(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.197_223dup (p.Ala66_Thr74dup) rs2141509708
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) rs121913530
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_004991.4(MECOM):c.2200C>T (p.Gln734Ter) rs1553838272
NM_005120.3(MED12):c.130G>A (p.Gly44Ser) rs199469669
NM_005228.5(EGFR):c.1881-858G>T rs909905659
NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal) rs1589792836
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005401.5(PTPN14):c.*6320C>T
NM_005401.5(PTPN14):c.-154-22749A>G
NM_005401.5(PTPN14):c.-154-42562G>A
NM_005401.5(PTPN14):c.1574C>T (p.Pro525Leu)
NM_005401.5(PTPN14):c.2164C>T (p.Pro722Ser)
NM_005401.5(PTPN14):c.2596A>G (p.Met866Val)
NM_005401.5(PTPN14):c.3500T>C (p.Ile1167Thr)
NM_005401.5(PTPN14):c.401_402insTT (p.Leu135fs) rs1558092113
NM_005401.5(PTPN14):c.581+60_669+877del
NM_005401.5(PTPN14):c.679G>T (p.Gly227Ter)
NM_005401.5(PTPN14):c.715A>T (p.Ile239Phe)
NM_005401.5(PTPN14):c.929+24del rs11322819
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_006218.4(PIK3CA):c.1033A>C (p.Asn345His) rs1057519939
NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr) rs1057519938
NM_006218.4(PIK3CA):c.1034A>T (p.Asn345Ile) rs1057519938
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) rs121913284
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1258T>G (p.Cys420Gly) rs121913272
NM_006218.4(PIK3CA):c.2086G>A (p.Gly696Arg) rs2108413471
NM_006218.4(PIK3CA):c.3127A>G (p.Met1043Val) rs1057519936
NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu) rs1057519936
NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr) rs1057519937
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
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.3141T>G (p.His1047Gln) rs1057519932
NM_006513.4(SARS1):c.971T>C (p.Ile324Thr) rs1553178399
NM_006766.5(KAT6A):c.1433C>T (p.Thr478Ile) rs1554688023
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_012433.4(SF3B1):c.1873C>T (p.Arg625Cys) rs775623976
NM_012433.4(SF3B1):c.1874G>A (p.Arg625His) rs1057519961
NM_014319.5(LEMD3):c.1522+11509_1522+11513del
NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser) rs1555196298
NM_015061.6(KDM4C):c.1112G>A (p.Arg371Gln)
NM_017617.5(NOTCH1):c.2825G>A (p.Cys942Tyr) rs1554728658
NM_017617.5(NOTCH1):c.4045_4052del (p.Ala1349fs) rs1554728034
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe) rs772718469
NM_022455.5(NSD1):c.7147G>T (p.Gly2383Cys) rs1554207664
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886
NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter) rs1555556099
NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter) rs765548101
NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe) rs1554079046
NM_033360.4(KRAS):c.*101_*106del rs1339924833
NM_033360.4(KRAS):c.57G>T (p.Leu19Phe) rs121913538
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter) rs770780171
NM_133171.5(ELMO2):c.1065+1G>T
NM_133171.5(ELMO2):c.1279+19del rs76979752
NM_133171.5(ELMO2):c.1525C>T (p.Arg509Ter) rs1568748859
NM_133171.5(ELMO2):c.1802-1G>C rs886037918
NM_133171.5(ELMO2):c.2080del (p.Leu694fs) rs886037919
NM_133171.5(ELMO2):c.311dup (p.Met104fs) rs2145827538
NM_139276.3(STAT3):c.1467T>A (p.Asn489Lys) rs1555564365
NM_152641.4(ARID2):c.2989C>T (p.Gln997Ter) rs1555155110
NM_182641.4(BPTF):c.6035T>C (p.Ile2012Thr)
NM_182925.5(FLT4):c.3179G>A (p.Arg1060Gln)
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter) rs1554527169
NM_194454.3(KRIT1):c.990-1G>A rs1554518790
Single allele
t(12;16)(q13.13;p11.2)
t(17;19)(q25.1;p13.3)
t(6;9)(q22.1;q34.3)
t(6;9)(q23.3;p22.3)
t(8;9)(q13.1;p22.3)

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