ClinVar Miner

List of variants in gene RUNX1 reported as likely pathogenic for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 115
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
NM_001754.5(RUNX1):c.1270T>G (p.Ser424Ala) rs2056451534 0.00003
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln) rs1569061762 0.00001
NC_000021.8:g.(?_36206697)_(36206908_?)del
NC_000021.8:g.36318516_37184936del
NC_000021.9:g.(?_34787801)_(34799462_?)del
NM_001754.4(RUNX1):c.509-?_613+?del
NM_001754.5(RUNX1):c.1003C>T (p.Gln335Ter) rs1569002881
NM_001754.5(RUNX1):c.1014_1033del (p.Leu339fs)
NM_001754.5(RUNX1):c.1035_1036dup (p.Arg346fs) rs1601333612
NM_001754.5(RUNX1):c.1036dup (p.Arg346fs) rs1601333612
NM_001754.5(RUNX1):c.1088_1094del (p.Gly363fs) rs2056458051
NM_001754.5(RUNX1):c.1110del (p.Met371fs)
NM_001754.5(RUNX1):c.1118C>A (p.Ser373Ter)
NM_001754.5(RUNX1):c.1142_1145dup (p.Pro383fs) rs2145876252
NM_001754.5(RUNX1):c.1163C>A (p.Ser388Ter) rs1569002296
NM_001754.5(RUNX1):c.1164del (p.Ser389fs) rs1601333051
NM_001754.5(RUNX1):c.1198_1201dup (p.Pro401fs) rs1569002159
NM_001754.5(RUNX1):c.1203del (p.Ser402fs)
NM_001754.5(RUNX1):c.1208_1214del (p.Tyr403fs)
NM_001754.5(RUNX1):c.1210del (p.His404fs)
NM_001754.5(RUNX1):c.1214_1217dup (p.Tyr407fs) rs2056453893
NM_001754.5(RUNX1):c.1216del (p.Tyr406fs) rs2056453972
NM_001754.5(RUNX1):c.1219_1221delinsGGGATCGTTCGGA (p.Tyr407fs) rs2145875208
NM_001754.5(RUNX1):c.1221C>A (p.Tyr407Ter)
NM_001754.5(RUNX1):c.1221C>G (p.Tyr407Ter) rs914897271
NM_001754.5(RUNX1):c.1228_1231dup (p.Ala411fs) rs1569002077
NM_001754.5(RUNX1):c.1233_1236dup (p.Ser413fs)
NM_001754.5(RUNX1):c.1242C>G (p.Tyr414Ter) rs2056452818
NM_001754.5(RUNX1):c.1256T>G (p.Val419Gly) rs2056452215
NM_001754.5(RUNX1):c.1256_1262dup (p.Glu422fs)
NM_001754.5(RUNX1):c.1263_1264insTCCCTCCTACCACCTGTACTACGGCGCCTCGGCCGGCTCCTACCAGTTCTCCATGGTGGGCGGC (p.Glu422fs) rs1569001972
NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro) rs2056451534
NM_001754.5(RUNX1):c.1271_1272insTCTC (p.Pro425fs)
NM_001754.5(RUNX1):c.1277_1278insCCCCCCCCCCC (p.Arg427fs) rs2056451263
NM_001754.5(RUNX1):c.1277dup (p.Arg427fs)
NM_001754.5(RUNX1):c.1283dup (p.Leu429fs) rs1555884845
NM_001754.5(RUNX1):c.1295dup (p.Cys432fs)
NM_001754.5(RUNX1):c.1345C>T (p.Gln449Ter)
NM_001754.5(RUNX1):c.1363del (p.Ala455fs)
NM_001754.5(RUNX1):c.1412_1413del (p.Arg471fs) rs1555884790
NM_001754.5(RUNX1):c.1417G>T (p.Glu473Ter)
NM_001754.5(RUNX1):c.1432_1433del (p.Arg478fs)
NM_001754.5(RUNX1):c.164C>A (p.Ala55Glu) rs1473182680
NM_001754.5(RUNX1):c.253_254insGGGG (p.His85fs) rs2146410489
NM_001754.5(RUNX1):c.268del (p.Val90fs) rs2146409966
NM_001754.5(RUNX1):c.280A>C (p.Ser94Arg) rs1057523598
NM_001754.5(RUNX1):c.281G>C (p.Ser94Thr)
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.314A>C (p.His105Pro) rs1569084116
NM_001754.5(RUNX1):c.315C>A (p.His105Gln) rs1601528621
NM_001754.5(RUNX1):c.316T>A (p.Trp106Arg) rs1555899735
NM_001754.5(RUNX1):c.316T>C (p.Trp106Arg) rs1555899735
NM_001754.5(RUNX1):c.319C>T (p.Arg107Cys) rs2057998063
NM_001754.5(RUNX1):c.320G>A (p.Arg107His) rs1569084106
NM_001754.5(RUNX1):c.330G>C (p.Lys110Asn) rs1569084082
NM_001754.5(RUNX1):c.330G>T (p.Lys110Asn) rs1569084082
NM_001754.5(RUNX1):c.339del (p.Ile114fs) rs1569084032
NM_001754.5(RUNX1):c.351+2T>A rs2057997150
NM_001754.5(RUNX1):c.351+2T>C
NM_001754.5(RUNX1):c.356dup (p.Ala120fs)
NM_001754.5(RUNX1):c.385_395del (p.Leu129fs)
NM_001754.5(RUNX1):c.389T>A (p.Val130Asp) rs2146363217
NM_001754.5(RUNX1):c.401C>T (p.Ala134Val) rs2146362916
NM_001754.5(RUNX1):c.403G>A (p.Gly135Ser) rs1186716957
NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)
NM_001754.5(RUNX1):c.467C>A (p.Ala156Glu) rs267607026
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.497G>A (p.Arg166Gln) rs1060499616
NM_001754.5(RUNX1):c.502G>T (p.Gly168Ter) rs1569078784
NM_001754.5(RUNX1):c.506G>T (p.Arg169Ile) rs2057883934
NM_001754.5(RUNX1):c.508+1G>A rs1601515718
NM_001754.5(RUNX1):c.508+1G>T rs1601515718
NM_001754.5(RUNX1):c.508+2T>C rs1601515707
NM_001754.5(RUNX1):c.508_508+10del
NM_001754.5(RUNX1):c.551_552insTACCACAGAGCCATCTGTG (p.Gln185fs)
NM_001754.5(RUNX1):c.566_584dup (p.Thr196fs) rs2146235138
NM_001754.5(RUNX1):c.578T>A (p.Ile193Asn) rs1601470652
NM_001754.5(RUNX1):c.582A>C (p.Lys194Asn) rs1569061799
NM_001754.5(RUNX1):c.586A>G (p.Thr196Ala) rs2057541324
NM_001754.5(RUNX1):c.592G>A (p.Asp198Asn)
NM_001754.5(RUNX1):c.592G>T (p.Asp198Tyr)
NM_001754.5(RUNX1):c.593A>C (p.Asp198Ala) rs1569061786
NM_001754.5(RUNX1):c.593A>T (p.Asp198Val) rs1569061786
NM_001754.5(RUNX1):c.596G>A (p.Gly199Glu) rs2057541040
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001754.5(RUNX1):c.610C>G (p.Arg204Gly)
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter) rs1569061768
NM_001754.5(RUNX1):c.613+1G>A
NM_001754.5(RUNX1):c.622C>T (p.Gln208Ter) rs1601416036
NM_001754.5(RUNX1):c.679G>T (p.Glu227Ter) rs1555889984
NM_001754.5(RUNX1):c.735del (p.Thr246fs) rs2146075448
NM_001754.5(RUNX1):c.777_778dup (p.Asn260fs)
NM_001754.5(RUNX1):c.782dup (p.Gln262fs)
NM_001754.5(RUNX1):c.784C>T (p.Gln262Ter) rs1601415426
NM_001754.5(RUNX1):c.799_800dup (p.Met267fs)
NM_001754.5(RUNX1):c.805+1G>T rs2146074371
NM_001754.5(RUNX1):c.806-1G>A
NM_001754.5(RUNX1):c.813del (p.Arg271fs) rs2145910106
NM_001754.5(RUNX1):c.820del (p.Gln274fs) rs1569009004
NM_001754.5(RUNX1):c.844_856del (p.Asp282fs) rs2056577059
NM_001754.5(RUNX1):c.861C>G (p.Tyr287Ter) rs121912499
NM_001754.5(RUNX1):c.957_958insG (p.Arg320fs) rs2145907149
NM_001754.5(RUNX1):c.958C>T (p.Arg320Ter) rs1569008655
NM_001754.5(RUNX1):c.965C>G (p.Ser322Ter) rs2145906974
NM_001754.5(RUNX1):c.965del (p.Leu321_Ser322insTer) rs2145906988
NM_001754.5(RUNX1):c.968-10C>A rs1476636108
NM_001754.5(RUNX1):c.968del (p.Thr323fs)
NM_001754.5(RUNX1):c.979_983dup (p.Thr328_Ala329insTer)
NM_001754.5(RUNX1):c.98-2A>G
NM_001754.5(RUNX1):c.999dup (p.Arg334fs) rs2145878129
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.