ClinVar Miner

List of variants in gene RUNX1 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 102
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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.259G>T (p.Gly87Cys) rs561166961 0.00003
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln) rs1569061762 0.00001
NC_000021.8:g.(?_36164432)_(36421257_?)del
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.1036dup (p.Arg346fs) rs1601333612
NM_001754.5(RUNX1):c.1088_1094del (p.Gly363fs) rs2056458051
NM_001754.5(RUNX1):c.1163C>A (p.Ser388Ter) rs1569002296
NM_001754.5(RUNX1):c.1164del (p.Ser389fs) rs1601333051
NM_001754.5(RUNX1):c.1173_1174del (p.Gln392fs)
NM_001754.5(RUNX1):c.1198_1201dup (p.Pro401fs) rs1569002159
NM_001754.5(RUNX1):c.1208_1214del (p.Tyr403fs)
NM_001754.5(RUNX1):c.1210del (p.His404fs)
NM_001754.5(RUNX1):c.1216del (p.Tyr406fs) rs2056453972
NM_001754.5(RUNX1):c.1219_1221delinsGGGATCGTTCGGA (p.Tyr407fs) rs2145875208
NM_001754.5(RUNX1):c.1228_1231dup (p.Ala411fs) rs1569002077
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.1363del (p.Ala455fs)
NM_001754.5(RUNX1):c.1412_1413del (p.Arg471fs) rs1555884790
NM_001754.5(RUNX1):c.1412_1413dup (p.Leu472fs) rs1555884790
NM_001754.5(RUNX1):c.159del (p.Ser53fs) rs1569084646
NM_001754.5(RUNX1):c.164C>A (p.Ala55Glu) rs1473182680
NM_001754.5(RUNX1):c.171_223del (p.Leu58fs) rs1569084451
NM_001754.5(RUNX1):c.253_254insGGGG (p.His85fs) rs2146410489
NM_001754.5(RUNX1):c.259_260dup (p.Glu88fs) rs2146410280
NM_001754.5(RUNX1):c.268del (p.Val90fs) rs2146409966
NM_001754.5(RUNX1):c.280A>C (p.Ser94Arg) rs1057523598
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.311del (p.Thr104fs)
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.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+1G>C rs1060502579
NM_001754.5(RUNX1):c.351+2T>A rs2057997150
NM_001754.5(RUNX1):c.389T>A (p.Val130Asp) rs2146363217
NM_001754.5(RUNX1):c.403G>A (p.Gly135Ser) rs1186716957
NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)
NM_001754.5(RUNX1):c.424dup (p.Ala142fs) rs1569079076
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.501del (p.Ser167fs) rs1569078799
NM_001754.5(RUNX1):c.502G>T (p.Gly168Ter) rs1569078784
NM_001754.5(RUNX1):c.504_508dup (p.Gly170fs) rs1569078774
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.508G>C (p.Gly170Arg) rs2146360175
NM_001754.5(RUNX1):c.508_508+10del
NM_001754.5(RUNX1):c.509-1G>A
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>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.719del (p.Pro240fs) rs1569037127
NM_001754.5(RUNX1):c.735del (p.Thr246fs) rs2146075448
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.830del (p.Pro277fs) rs2145909826
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.958C>T (p.Arg320Ter) rs1569008655
NM_001754.5(RUNX1):c.965C>G (p.Ser322Ter) rs2145906974
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

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