ClinVar Miner

List of variants reported as pathogenic for myeloproliferative neoplasm

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 455
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HGVS dbSNP gnomAD frequency
NR_040073.1(MIR181A1HG):n.363+26A>G rs10800598 0.73974
NR_040073.1(MIR181A1HG):n.363+1456C>T rs10800597 0.71965
NR_040073.1(MIR181A1HG):n.363+1862C>A rs60639710 0.71928
NR_040073.1(MIR181A1HG):n.364-18748G>A rs12406470 0.47231
NC_000001.11:g.198807802C>A rs9660525 0.38046
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr) rs754613772 0.00145
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_005373.3(MPL):c.769C>T (p.Arg257Cys) rs121913611 0.00011
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_001135608.3(ARHGAP26):c.1250A>G (p.Asn417Ser) rs121918546 0.00010
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562 0.00007
NM_001375462.1(LPP):c.1354C>T (p.Arg452Ter) rs202115941 0.00006
NM_005373.3(MPL):c.304C>T (p.Arg102Cys) rs763568293 0.00006
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097 0.00006
NM_001018115.3(FANCD2):c.990-1G>A rs112832879 0.00005
NM_005373.3(MPL):c.235_236del (p.Leu79fs) rs587778514 0.00005
NM_005373.3(MPL):c.127C>T (p.Arg43Ter) rs148434485 0.00004
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp) rs148784027 0.00004
NM_005373.3(MPL):c.1621C>T (p.Gln541Ter) rs369156948 0.00004
NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu) rs559063155 0.00004
NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter) rs779626155 0.00004
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) rs754859909 0.00003
NM_005373.3(MPL):c.230del (p.Cys77fs) rs1291157023 0.00003
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_004343.4(CALR):c.1154_1155insTTGTC (p.Lys385fs) rs765476509 0.00002
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) rs267606708 0.00002
NM_005373.3(MPL):c.460T>C (p.Trp154Arg) rs758428763 0.00002
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.3395G>A (p.Arg1132His) rs778920556 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001042492.3(NF1):c.6704+1G>T rs1060500376 0.00001
NM_001754.5(RUNX1):c.496C>T (p.Arg166Ter) rs759068561 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 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_005188.4(CBL):c.1111T>C (p.Tyr371His) rs267606706 0.00001
NM_005373.3(MPL):c.1042C>T (p.Gln348Ter) rs1355966040 0.00001
NM_005373.3(MPL):c.1069C>T (p.Arg357Ter) rs751975712 0.00001
NM_005373.3(MPL):c.1276C>T (p.Arg426Ter) rs753018650 0.00001
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter) rs1169744090 0.00001
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) rs121913615 0.00001
NM_005373.3(MPL):c.1774C>T (p.Arg592Ter) rs755447085 0.00001
NM_005373.3(MPL):c.605dup (p.Ala203fs) rs1441276119 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter) rs899399494 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
ARHGAP26, 52-BP INS
ARHGAP26, 74-BP INS
FLT3, INTERNAL TANDEM DUP
MN1-ETV6 fusion
NC_000001.10:g.(?_43800988)_(43803797_?)del
NC_000001.10:g.(?_43803510)_(43806194_?)del
NC_000001.11:g.(?_43349253)_(43349369_?)del
NF1, IVS34, G-A, +18
NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter) rs876657715
NM_000314.8(PTEN):c.-326=
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000546.6(TP53):c.323_329dup (p.Leu111fs) rs1131691004
NM_000546.6(TP53):c.331del (p.Leu111fs) rs2151039122
NM_000546.6(TP53):c.449C>T (p.Thr150Ile) rs2151032692
NM_000546.6(TP53):c.494A>T (p.Gln165Leu)
NM_000546.6(TP53):c.513G>T (p.Glu171Asp)
NM_000546.6(TP53):c.537T>A (p.His179Gln) rs876660821
NM_000546.6(TP53):c.549A>T (p.Ser183=)
NM_000546.6(TP53):c.576del (p.Gln192fs)
NM_000546.6(TP53):c.636del (p.Arg213fs) rs864309495
NM_000546.6(TP53):c.710T>A (p.Met237Lys) rs765848205
NM_000546.6(TP53):c.719G>A (p.Ser240Asn)
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.752T>A (p.Ile251Asn) rs730882027
NM_000546.6(TP53):c.761T>C (p.Ile254Thr)
NM_001042492.3(NF1):c.1020dup (p.Val341fs) rs1555610905
NM_001042492.3(NF1):c.1062+1G>A rs1597681200
NM_001042492.3(NF1):c.1120del (p.Asp374fs)
NM_001042492.3(NF1):c.1131dup (p.Asp378Ter)
NM_001042492.3(NF1):c.1185+1G>A rs864622161
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1490del (p.Val497fs) rs1555612286
NM_001042492.3(NF1):c.1555del (p.Gln519fs) rs2066874267
NM_001042492.3(NF1):c.1570G>T (p.Glu524Ter) rs1135402815
NM_001042492.3(NF1):c.1642-8A>G rs267606602
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.1729del (p.Met577fs)
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1845+1G>A rs1567845945
NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter) rs1555613543
NM_001042492.3(NF1):c.1866T>A (p.Cys622Ter) rs753245823
NM_001042492.3(NF1):c.2033del (p.Pro678fs) rs587781807
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.2252-2A>C rs1131691105
NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter) rs1567847905
NM_001042492.3(NF1):c.2325+1del
NM_001042492.3(NF1):c.2410-12T>G rs876657932
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.247C>T (p.Gln83Ter) rs746824139
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu) rs199474748
NM_001042492.3(NF1):c.2603_2604dup (p.Pro869fs)
NM_001042492.3(NF1):c.2709G>A (p.Val903=) rs771820789
NM_001042492.3(NF1):c.2851-6_2851-3del rs1597716256
NM_001042492.3(NF1):c.288+1G>A rs1567816131
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_001042492.3(NF1):c.289-2A>G rs2143670119
NM_001042492.3(NF1):c.2970_2971del (p.Met991fs) rs1597716432
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2991-1G>A rs1060500273
NM_001042492.3(NF1):c.2991-1G>C rs1060500273
NM_001042492.3(NF1):c.3113+1G>T rs267606599
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_001042492.3(NF1):c.3628G>T (p.Glu1210Ter) rs2151435633
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3814C>T (p.Gln1272Ter) rs2067188361
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3870+1G>T rs1131691075
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter) rs2067193761
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.4066_4067del (p.Glu1356fs)
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter) rs1555618494
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter) rs1131691072
NM_001042492.3(NF1):c.4331A>G (p.Lys1444Arg) rs199474781
NM_001042492.3(NF1):c.4332+1G>A rs1555618572
NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg) rs786204157
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del) rs267606607
NM_001042492.3(NF1):c.4515del (p.Ala1506fs) rs2151464719
NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter) rs1567862991
NM_001042492.3(NF1):c.4578-1G>A rs1555618999
NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter) rs137854555
NM_001042492.3(NF1):c.479+5G>A rs1567818033
NM_001042492.3(NF1):c.4835+1G>T rs1085307819
NM_001042492.3(NF1):c.4836-2A>G
NM_001042492.3(NF1):c.484C>T (p.Gln162Ter) rs1555607073
NM_001042492.3(NF1):c.4980_4981insTT (p.Lys1661fs) rs2069329774
NM_001042492.3(NF1):c.4985G>A (p.Trp1662Ter) rs1567611375
NM_001042492.3(NF1):c.4986G>A (p.Trp1662Ter) rs2151538007
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5158del (p.Glu1720fs) rs2151538733
NM_001042492.3(NF1):c.5167C>T (p.Gln1723Ter) rs766727694
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.5368G>T (p.Glu1790Ter) rs1597831990
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001042492.3(NF1):c.5503C>T (p.Gln1835Ter) rs786202177
NM_001042492.3(NF1):c.55G>T (p.Glu19Ter) rs786203307
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.5620del (p.Tyr1874fs)
NM_001042492.3(NF1):c.5629_5630del (p.Leu1877fs) rs2069448326
NM_001042492.3(NF1):c.5657T>G (p.Leu1886Ter)
NM_001042492.3(NF1):c.5730dup (p.Ile1911fs) rs876660212
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) rs786203896
NM_001042492.3(NF1):c.5812+2T>G rs1555533887
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5907_5910del (p.Arg1970fs)
NM_001042492.3(NF1):c.5908dup (p.Arg1970fs)
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.3(NF1):c.6006+1G>A rs1555534433
NM_001042492.3(NF1):c.6007-5A>G rs267606604
NM_001042492.3(NF1):c.654+1G>T rs1060500245
NM_001042492.3(NF1):c.662G>A (p.Trp221Ter) rs1131691126
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.6642+2T>C rs2069709336
NM_001042492.3(NF1):c.6705-1G>C rs1060500356
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6819+2T>C rs1135402894
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.688G>T (p.Glu230Ter) rs2066138676
NM_001042492.3(NF1):c.6897del (p.Lys2300fs)
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter) rs1057518807
NM_001042492.3(NF1):c.6921+1G>T rs1060500355
NM_001042492.3(NF1):c.6922-1G>A
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter) rs1131691073
NM_001042492.3(NF1):c.7018C>T (p.Gln2340Ter) rs2069793099
NM_001042492.3(NF1):c.7063-2A>T
NM_001042492.3(NF1):c.7145del (p.Phe2382fs) rs2151565168
NM_001042492.3(NF1):c.7158dup (p.Asn2387Ter) rs1597851420
NM_001042492.3(NF1):c.7194C>G (p.Tyr2398Ter) rs2070073649
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs) rs1597858459
NM_001042492.3(NF1):c.7269_7270del (p.His2423fs) rs878853913
NM_001042492.3(NF1):c.7303_7304del (p.Ser2435fs) rs1597858594
NM_001042492.3(NF1):c.731-1G>C rs1555608928
NM_001042492.3(NF1):c.7330dup (p.Thr2444fs) rs1064794278
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.750dup (p.Asp251Ter)
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly) rs1597866846
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_001042492.3(NF1):c.8059_8060del (p.Ser2687fs) rs1060500387
NM_001042492.3(NF1):c.8135G>A (p.Trp2712Ter)
NM_001042492.3(NF1):c.889-2A>G rs878853922
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.3(NF1):c.952_953del (p.Glu318fs) rs2066507116
NM_001042492.3(NF1):c.952del (p.Glu318fs) rs1555610881
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer) rs1555610893
NM_001123385.2(BCOR):c.4751del (p.Asn1584fs) rs2146872060
NM_001127208.3(TET2):c.5618T>C (p.Ile1873Thr)
NM_001195427.2(SRSF2):c.284C>T (p.Pro95Leu)
NM_001283009.2(RTEL1):c.1135+1G>A rs1555903332
NM_001754.5(RUNX1):c.1036dup (p.Arg346fs) rs1601333612
NM_001754.5(RUNX1):c.1256_1262dup (p.Glu422fs)
NM_001754.5(RUNX1):c.161A>T (p.Glu54Val) rs2058004521
NM_001754.5(RUNX1):c.166_196del (p.Leu56fs) rs2058002908
NM_001754.5(RUNX1):c.267G>A (p.Leu89=) rs2146409992
NM_001754.5(RUNX1):c.320G>A (p.Arg107His) rs1569084106
NM_001754.5(RUNX1):c.386dup (p.Val130fs)
NM_001754.5(RUNX1):c.588del (p.Val197fs) rs2057541271
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.115_116insGGGGCTTGGATGCAGCAGCTTCCTGCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCCTG (p.Glu39delinsGlyGlyLeuAspAlaAlaAlaSerCysThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaTer) rs2062673859
NM_002049.4(GATA1):c.142_149dup (p.Ser51fs) rs2062673949
NM_002049.4(GATA1):c.151_186delinsT (p.Ser51fs) rs2062674043
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs) rs398124628
NM_002049.4(GATA1):c.159_171dup (p.Ala58fs) rs2062674122
NM_002049.4(GATA1):c.175_193dup (p.Asp65fs) rs2062674253
NM_002049.4(GATA1):c.219A>G (p.Pro73=) rs2062674480
NM_002049.4(GATA1):c.219del (p.Val74fs) rs2062674491
NM_002049.4(GATA1):c.49_50del (p.Gln17fs) rs2062673530
NM_002049.4(GATA1):c.4dup (p.Glu2fs) rs2062673272
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002221.4(ITPKB):c.964G>A (p.Ala322Thr)
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_002520.7(NPM1):c.864_873delinsTTTAAGGATTCGTC (p.Trp288fs) rs1581263026
NM_002520.7(NPM1):c.869_875delinsCCCTGGCTAGG (p.Trp290fs) rs1561878500
NM_002520.7(NPM1):c.875del (p.Lys292fs) rs2113301331
NM_002520.7(NPM1):c.885A>G (p.Ter295=) rs2113301391
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002609.4(PDGFRB):c.1751C>G (p.Pro584Arg) rs863224946
NM_002609.4(PDGFRB):c.1997A>G (p.Asn666Ser) rs2113894766
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala) rs121918458
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.181G>T (p.Asp61Tyr) rs397507510
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
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_002834.5(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
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_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) rs1555760738
NM_004364.5(CEBPA):c.1000G>A (p.Glu334Lys) rs369632687
NM_004364.5(CEBPA):c.1039G>A (p.Glu347Lys) rs1468313242
NM_004364.5(CEBPA):c.115_121del (p.Pro39fs) rs587776848
NM_004364.5(CEBPA):c.119dup (p.Gln41fs) rs1555742295
NM_004364.5(CEBPA):c.125del (p.Pro42fs) rs2145264339
NM_004364.5(CEBPA):c.146del (p.Pro49fs)
NM_004364.5(CEBPA):c.148G>T (p.Glu50Ter) rs121912791
NM_004364.5(CEBPA):c.168C>A (p.Cys56Ter) rs1967195832
NM_004364.5(CEBPA):c.174_184del (p.Glu59fs)
NM_004364.5(CEBPA):c.175G>T (p.Glu59Ter) rs1210600080
NM_004364.5(CEBPA):c.179dup (p.Ser61fs)
NM_004364.5(CEBPA):c.180_183del (p.Ile62fs)
NM_004364.5(CEBPA):c.186_190del (p.Asp63fs) rs1060502121
NM_004364.5(CEBPA):c.195_198delinsACG (p.Ser65fs) rs1600023950
NM_004364.5(CEBPA):c.206del (p.Asp69fs) rs1967194243
NM_004364.5(CEBPA):c.209del (p.Pro70fs) rs2145263762
NM_004364.5(CEBPA):c.211_214dup (p.Ala72fs) rs587776849
NM_004364.5(CEBPA):c.247del (p.Gln83fs) rs1967192886
NM_004364.5(CEBPA):c.251A>T (p.His84Leu) rs28931590
NM_004364.5(CEBPA):c.273_309delinsGGCCAGGGTCT (p.Lys92fs)
NM_004364.5(CEBPA):c.292del (p.Thr98fs)
NM_004364.5(CEBPA):c.314A>T (p.Asp105Val) rs2145263100
NM_004364.5(CEBPA):c.320del (p.Asp107fs) rs1600023511
NM_004364.5(CEBPA):c.324C>A (p.Tyr108Ter)
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter) rs1555742221
NM_004364.5(CEBPA):c.332_339del (p.Ala111fs) rs1555742213
NM_004364.5(CEBPA):c.350del (p.Gly117fs)
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter) rs1388478228
NM_004364.5(CEBPA):c.60dup (p.Ser21fs) rs2145264820
NM_004364.5(CEBPA):c.68del (p.Pro23fs) rs137852728
NM_004364.5(CEBPA):c.68dup (p.His24fs) rs137852728
NM_004364.5(CEBPA):c.69del (p.His24fs) rs2145264731
NM_004364.5(CEBPA):c.925_951dup (p.Glu309_Leu317dup) rs1555741967
NM_004364.5(CEBPA):c.935_991dup (p.Gln312_Gln330dup) rs1555741948
NM_004972.4(JAK2):c.1821G>C (p.Lys607Asn) rs121912472
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
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>C (p.Tyr371Ser) rs387906666
NM_005188.4(CBL):c.1112A>G (p.Tyr371Cys) rs387906666
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005373.3(MPL):c.1015A>T (p.Lys339Ter)
NM_005373.3(MPL):c.1025del (p.Pro342fs) rs1286303912
NM_005373.3(MPL):c.1033C>T (p.Gln345Ter)
NM_005373.3(MPL):c.1145del (p.Pro382fs)
NM_005373.3(MPL):c.1194G>A (p.Trp398Ter) rs1570470199
NM_005373.3(MPL):c.11G>A (p.Trp4Ter)
NM_005373.3(MPL):c.1219G>T (p.Glu407Ter) rs2153918764
NM_005373.3(MPL):c.1231C>T (p.Gln411Ter)
NM_005373.3(MPL):c.1247G>A (p.Trp416Ter) rs1647059649
NM_005373.3(MPL):c.1248G>A (p.Trp416Ter) rs2153918792
NM_005373.3(MPL):c.1263_1264del (p.Cys422fs) rs2153918800
NM_005373.3(MPL):c.1270C>T (p.Gln424Ter) rs1647060064
NM_005373.3(MPL):c.1305del (p.Asp434_Trp435insTer) rs2153918831
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs) rs1292577132
NM_005373.3(MPL):c.1320del (p.Pro441fs)
NM_005373.3(MPL):c.1346dup (p.Glu450fs) rs2153919240
NM_005373.3(MPL):c.1348G>T (p.Glu450Ter) rs1647073222
NM_005373.3(MPL):c.1368_1369del (p.Tyr457fs)
NM_005373.3(MPL):c.1378C>T (p.Gln460Ter) rs1469739934
NM_005373.3(MPL):c.1430G>A (p.Trp477Ter)
NM_005373.3(MPL):c.1462G>T (p.Glu488Ter) rs1302209849
NM_005373.3(MPL):c.1463_1466dup (p.Ala490fs) rs2153919318
NM_005373.3(MPL):c.1474_1477dup (p.Ser493fs) rs1647077635
NM_005373.3(MPL):c.1489_1490del (p.Ala497fs) rs2153919403
NM_005373.3(MPL):c.1523dup (p.Leu510fs)
NM_005373.3(MPL):c.1532_1535del (p.Leu511fs) rs1332801952
NM_005373.3(MPL):c.1543_1544delinsAA (p.Trp515Lys) rs121913616
NM_005373.3(MPL):c.1546C>T (p.Gln516Ter) rs2153919438
NM_005373.3(MPL):c.1563C>A (p.Tyr521Ter) rs1392072769
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005373.3(MPL):c.1671dup (p.Asp558fs) rs1647100516
NM_005373.3(MPL):c.1678del (p.Cys560fs)
NM_005373.3(MPL):c.1680T>A (p.Cys560Ter)
NM_005373.3(MPL):c.1684G>T (p.Glu562Ter)
NM_005373.3(MPL):c.1725dup (p.Glu576fs)
NM_005373.3(MPL):c.1745del (p.Leu582fs)
NM_005373.3(MPL):c.1748_1749del (p.Cys583fs)
NM_005373.3(MPL):c.1810dup (p.Leu604fs)
NM_005373.3(MPL):c.1814_1817del (p.Ser605fs) rs1402847914
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter) rs1373623383
NM_005373.3(MPL):c.189C>G (p.Tyr63Ter) rs1373623383
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005373.3(MPL):c.190C>T (p.Gln64Ter) rs2153916273
NM_005373.3(MPL):c.209del (p.Pro70fs)
NM_005373.3(MPL):c.214G>T (p.Glu72Ter) rs1406715863
NM_005373.3(MPL):c.236del (p.Leu79fs)
NM_005373.3(MPL):c.252del (p.Met84fs) rs2153916450
NM_005373.3(MPL):c.268C>T (p.Arg90Ter) rs763144679
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter) rs759361904
NM_005373.3(MPL):c.278_285dup (p.Pro96fs)
NM_005373.3(MPL):c.308del (p.Leu103fs) rs1361003749
NM_005373.3(MPL):c.311del (p.Phe104fs) rs2153916495
NM_005373.3(MPL):c.313_316del (p.Phe105fs) rs2153916498
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.3(MPL):c.367C>T (p.Arg123Ter) rs1443655691
NM_005373.3(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.3(MPL):c.388_389del (p.Val130fs)
NM_005373.3(MPL):c.407C>T (p.Pro136Leu)
NM_005373.3(MPL):c.408del (p.Ser137fs)
NM_005373.3(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.3(MPL):c.417dup (p.Lys140fs)
NM_005373.3(MPL):c.432dup (p.Ser145fs)
NM_005373.3(MPL):c.455del (p.Ile152fs) rs1647014461
NM_005373.3(MPL):c.478G>T (p.Glu160Ter) rs768536266
NM_005373.3(MPL):c.519del (p.Arg174fs)
NM_005373.3(MPL):c.556C>T (p.Gln186Ter) rs121913610
NM_005373.3(MPL):c.582C>A (p.Cys194Ter)
NM_005373.3(MPL):c.603_606del (p.His201fs) rs1438181248
NM_005373.3(MPL):c.655dup (p.Gln219fs) rs1647016174
NM_005373.3(MPL):c.695C>A (p.Ser232Ter) rs1647019292
NM_005373.3(MPL):c.700_701del (p.Leu234fs)
NM_005373.3(MPL):c.709G>T (p.Glu237Ter)
NM_005373.3(MPL):c.744_747dup (p.Asn250fs) rs587778518
NM_005373.3(MPL):c.793del (p.Leu265fs) rs1647020172
NM_005373.3(MPL):c.807G>A (p.Trp269Ter) rs1647020318
NM_005373.3(MPL):c.840del (p.Pro281fs)
NM_005373.3(MPL):c.842del (p.Pro281fs) rs2153917100
NM_005373.3(MPL):c.873C>A (p.Cys291Ter)
NM_005373.3(MPL):c.89T>A (p.Leu30Ter)
NM_005373.3(MPL):c.916C>T (p.Gln306Ter)
NM_005373.3(MPL):c.948C>A (p.Tyr316Ter)
NM_005373.3(MPL):c.94del (p.Ala32fs) rs2153916214
NM_005373.3(MPL):c.972_973del (p.Asp326fs) rs2153917276
NM_005373.3(MPL):c.972del (p.Arg325fs) rs770457041
NM_005475.3(SH2B3):c.603_607del (p.Arg202fs) rs587776885
NM_005551.5(KLK2):c.748C>T (p.Arg250Trp) rs198977
NM_012433.4(SF3B1):c.1998G>C (p.Lys666Asn) rs377023736
NM_015338.6(ASXL1):c.1892_1938del (p.His631fs)
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) rs766433101
NM_016222.3:c.[711G>T;712C>A]
NM_016222.4(DDX41):c.719delinsCG (p.Ile240fs) rs1761157695
NM_017617.5(NOTCH1):c.2296G>A (p.Gly766Ser)
NM_022455.5(NSD1):c.1854del (p.Lys618_Val619insTer) rs1562206791
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter) rs587784170
NM_022552.5(DNMT3A):c.1935_1936del (p.Gly646fs)
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_033360.4(KRAS):c.27_29dup (p.Gly10dup) rs606231202
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp) rs1194223999
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys) rs879255268
Single allele
inv(16)(p13.3q24.3)
t(11;12)(p15;p13)
t(11;17)(q23;q12-q21)
t(11;17)(q23;q25)
t(16;16)(p13.3;q24.3)

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