ClinVar Miner

List of variants in gene RUNX1 studied for bone neoplasm

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.614-34C>T rs11702841 0.99999
NM_001754.5(RUNX1):c.1389C>G (p.Pro463=) rs61750222 0.04709
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
NM_001754.5(RUNX1):c.927C>T (p.Gly309=) rs59802347 0.01119
NM_001754.5(RUNX1):c.183G>A (p.Pro61=) rs76558016 0.00454
NM_001754.5(RUNX1):c.351+15A>G rs199881885 0.00396
NM_001754.5(RUNX1):c.303G>T (p.Val101=) rs142472642 0.00200
NM_001754.5(RUNX1):c.1086G>C (p.Ser362=) rs143947839 0.00072
NM_001754.5(RUNX1):c.654C>T (p.Ser218=) rs145230602 0.00063
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=) rs544247912 0.00040
NM_001754.5(RUNX1):c.-59-10C>T rs578080277 0.00018
NM_001754.5(RUNX1):c.952T>G (p.Ser318Ala) rs545554349 0.00013
NM_001754.5(RUNX1):c.1005G>T (p.Gln335His) rs80314254 0.00011
NM_001754.5(RUNX1):c.1252A>G (p.Met418Val) rs578042376 0.00010
NM_001754.5(RUNX1):c.492C>T (p.Val164=) rs200907577 0.00008
NM_001754.5(RUNX1):c.649G>A (p.Gly217Arg) rs749004431 0.00006
NM_001754.5(RUNX1):c.917G>A (p.Arg306His) rs139336358 0.00006
NM_001754.5(RUNX1):c.749G>A (p.Arg250His) rs771614642 0.00005
NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala) rs2056451758 0.00004
NM_001754.5(RUNX1):c.1338C>T (p.Leu446=) rs769628054 0.00004
NM_001754.5(RUNX1):c.56G>A (p.Arg19Lys) rs759078185 0.00004
NM_001754.5(RUNX1):c.801G>A (p.Met267Ile) rs757570529 0.00004
NM_001754.5(RUNX1):c.925G>A (p.Gly309Ser) rs752288830 0.00004
NM_001754.5(RUNX1):c.1112T>C (p.Met371Thr) rs922736848 0.00003
NM_001754.5(RUNX1):c.787C>T (p.Pro263Ser) rs370315332 0.00003
NM_001754.5(RUNX1):c.899C>T (p.Thr300Met) rs758682659 0.00003
NM_001754.5(RUNX1):c.692T>C (p.Leu231Pro) rs1408720761 0.00002
NM_001754.5(RUNX1):c.1041G>A (p.Met347Ile) rs370114565 0.00001
NM_001754.5(RUNX1):c.11A>G (p.Asp4Gly) rs534158221 0.00001
NM_001754.5(RUNX1):c.1229C>T (p.Ser410Leu) rs1214667759 0.00001
NM_001754.5(RUNX1):c.1322T>G (p.Leu441Arg) rs777551786 0.00001
NM_001754.5(RUNX1):c.1354G>A (p.Val452Met) rs916623598 0.00001
NM_001754.5(RUNX1):c.1403C>T (p.Pro468Leu) rs1034562071 0.00001
NM_001754.5(RUNX1):c.146C>T (p.Pro49Leu) rs752298116 0.00001
NM_001754.5(RUNX1):c.182C>T (p.Pro61Leu) rs769213771 0.00001
NM_001754.5(RUNX1):c.239A>C (p.Glu80Ala) rs1313711063 0.00001
NM_001754.5(RUNX1):c.35C>T (p.Ser12Leu) rs750755857 0.00001
NM_001754.5(RUNX1):c.367G>C (p.Asp123His) rs373498347 0.00001
NM_001754.5(RUNX1):c.421T>G (p.Ser141Ala) rs1182543054 0.00001
NM_001754.5(RUNX1):c.697C>T (p.Arg233Cys) rs765528082 0.00001
NM_001754.5(RUNX1):c.764A>G (p.His255Arg) rs746977462 0.00001
NM_001754.5(RUNX1):c.973C>T (p.Pro325Ser) rs746531841 0.00001
NM_001754.5(RUNX1):c.*83G>A rs2145870845
NM_001754.5(RUNX1):c.1013C>T (p.Ala338Val) rs1273605678
NM_001754.5(RUNX1):c.1036dup (p.Arg346fs) rs1601333612
NM_001754.5(RUNX1):c.1166C>G (p.Ser389Trp)
NM_001754.5(RUNX1):c.1180G>A (p.Gly394Ser) rs2056455422
NM_001754.5(RUNX1):c.1184C>G (p.Pro395Arg) rs868527382
NM_001754.5(RUNX1):c.1191A>T (p.Gln397His) rs1176713877
NM_001754.5(RUNX1):c.1197C>A (p.Ser399Arg) rs1555884864
NM_001754.5(RUNX1):c.1219_1221delinsGGGATCGTTCGGA (p.Tyr407fs) rs2145875208
NM_001754.5(RUNX1):c.1256_1262dup (p.Glu422fs)
NM_001754.5(RUNX1):c.1272G>C (p.Ser424=) rs1459260782
NM_001754.5(RUNX1):c.1277C>G (p.Pro426Arg)
NM_001754.5(RUNX1):c.1318G>A (p.Ala440Thr)
NM_001754.5(RUNX1):c.1353C>A (p.Asp451Glu)
NM_001754.5(RUNX1):c.1367_1426dup (p.Glu456_Ala475dup) rs2056446750
NM_001754.5(RUNX1):c.1409C>T (p.Ala470Val) rs1601331921
NM_001754.5(RUNX1):c.161A>T (p.Glu54Val) rs2058004521
NM_001754.5(RUNX1):c.164C>A (p.Ala55Glu) rs1473182680
NM_001754.5(RUNX1):c.194C>T (p.Ala65Val) rs2058002974
NM_001754.5(RUNX1):c.232A>C (p.Met78Leu)
NM_001754.5(RUNX1):c.267G>A (p.Leu89=) rs2146409992
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.320G>A (p.Arg107His) rs1569084106
NM_001754.5(RUNX1):c.331A>C (p.Thr111Pro) rs1555899722
NM_001754.5(RUNX1):c.340A>G (p.Ile114Val) rs2146407952
NM_001754.5(RUNX1):c.342C>G (p.Ile114Met)
NM_001754.5(RUNX1):c.386dup (p.Val130fs)
NM_001754.5(RUNX1):c.388G>A (p.Val130Ile)
NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)
NM_001754.5(RUNX1):c.463G>A (p.Val155Ile) rs763464804
NM_001754.5(RUNX1):c.484A>G (p.Arg162Gly) rs1057519751
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.5(RUNX1):c.486G>C (p.Arg162Ser) rs1057519749
NM_001754.5(RUNX1):c.486G>T (p.Arg162Ser) rs1057519749
NM_001754.5(RUNX1):c.503G>T (p.Gly168Val) rs2057884016
NM_001754.5(RUNX1):c.508+2T>C rs1601515707
NM_001754.5(RUNX1):c.588del (p.Val197fs) rs2057541271
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001754.5(RUNX1):c.620G>A (p.Arg207Gln) rs1229231012
NM_001754.5(RUNX1):c.671G>A (p.Arg224Gln) rs754894156
NM_001754.5(RUNX1):c.694C>T (p.Arg232Trp)
NM_001754.5(RUNX1):c.70G>A (p.Gly24Arg) rs1399187182
NM_001754.5(RUNX1):c.739C>T (p.Pro247Ser) rs2057112093
NM_001754.5(RUNX1):c.82_84del (p.Ser28del) rs775050403
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.