ClinVar Miner

List of variants in gene RUNX1 reported by Preventiongenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.614-34C>T rs11702841 0.99999
NM_001754.5(RUNX1):c.*27C>A rs13051066 0.36204
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.*44C>G rs535532916 0.00869
NM_001754.5(RUNX1):c.58+23A>G rs117776183 0.00482
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.613+8C>T rs186585782 0.00300
NM_001754.5(RUNX1):c.303G>T (p.Val101=) rs142472642 0.00200
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.698G>A (p.Arg233His) rs150042294 0.00036
NM_001754.5(RUNX1):c.155T>A (p.Met52Lys) rs200431130 0.00028
NM_001754.5(RUNX1):c.648C>T (p.Pro216=) rs199759556 0.00021
NM_001754.5(RUNX1):c.508+18A>G rs377681816 0.00012
NM_001754.5(RUNX1):c.552G>T (p.Pro184=) rs752586117 0.00006
NM_001754.5(RUNX1):c.-2C>T rs375033964 0.00005
NM_001754.5(RUNX1):c.749G>A (p.Arg250His) rs771614642 0.00005
NM_001754.5(RUNX1):c.1044C>T (p.His348=) rs773671764 0.00004
NM_001754.5(RUNX1):c.1338C>T (p.Leu446=) rs769628054 0.00004
NM_001754.5(RUNX1):c.1007T>C (p.Phe336Ser) rs752745196 0.00003
NM_001754.5(RUNX1):c.259G>T (p.Gly87Cys) rs561166961 0.00003
NM_001754.5(RUNX1):c.984A>G (p.Thr328=) rs377305704 0.00003
NM_001754.5(RUNX1):c.1275G>A (p.Pro425=) rs886038488 0.00002
NM_001754.5(RUNX1):c.1160G>C (p.Gly387Ala) rs1238015554 0.00001
NM_001754.5(RUNX1):c.1243C>T (p.Gln415Ter) rs1397702481 0.00001
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln) rs1569061762 0.00001
NM_001754.5(RUNX1):c.900G>A (p.Thr300=) rs533383085 0.00001
NM_001754.4(RUNX1):c.352-1G>T rs587776809
NM_001754.4(RUNX1):c.356_358delTGG rs1569079249
NM_001754.5(RUNX1):c.-19G>A rs1568815605
NM_001754.5(RUNX1):c.1003C>T (p.Gln335Ter) rs1569002881
NM_001754.5(RUNX1):c.1036del (p.Arg346fs)
NM_001754.5(RUNX1):c.1092CGGCAT[3] (p.364IG[3]) rs750495319
NM_001754.5(RUNX1):c.1163C>A (p.Ser388Ter) rs1569002296
NM_001754.5(RUNX1):c.1173_1174del (p.Gln392fs)
NM_001754.5(RUNX1):c.1198_1201dup (p.Pro401fs) rs1569002159
NM_001754.5(RUNX1):c.1228_1231dup (p.Ala411fs) rs1569002077
NM_001754.5(RUNX1):c.1263_1264insTCCCTCCTACCACCTGTACTACGGCGCCTCGGCCGGCTCCTACCAGTTCTCCATGGTGGGCGGC (p.Glu422fs) rs1569001972
NM_001754.5(RUNX1):c.1322T>C (p.Leu441Pro) rs777551786
NM_001754.5(RUNX1):c.1412_1413dup (p.Leu472fs) rs1555884790
NM_001754.5(RUNX1):c.159del (p.Ser53fs) rs1569084646
NM_001754.5(RUNX1):c.165G>A (p.Ala55=) rs766206710
NM_001754.5(RUNX1):c.170C>T (p.Pro57Leu) rs1266842690
NM_001754.5(RUNX1):c.171_223del (p.Leu58fs) rs1569084451
NM_001754.5(RUNX1):c.184_187dup (p.Ala63fs)
NM_001754.5(RUNX1):c.188C>T (p.Ala63Val)
NM_001754.5(RUNX1):c.223G>T (p.Asp75Tyr) rs2058001847
NM_001754.5(RUNX1):c.240_241del (p.Glu80fs) rs1569084388
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.305T>A (p.Leu102Gln) rs1569084132
NM_001754.5(RUNX1):c.311del (p.Thr104fs)
NM_001754.5(RUNX1):c.314A>C (p.His105Pro) rs1569084116
NM_001754.5(RUNX1):c.328A>G (p.Lys110Glu) rs121912498
NM_001754.5(RUNX1):c.330G>C (p.Lys110Asn) rs1569084082
NM_001754.5(RUNX1):c.339del (p.Ile114fs) rs1569084032
NM_001754.5(RUNX1):c.351+1G>A rs1060502579
NM_001754.5(RUNX1):c.351+1G>C rs1060502579
NM_001754.5(RUNX1):c.421T>C (p.Ser141Pro)
NM_001754.5(RUNX1):c.424dup (p.Ala142fs) rs1569079076
NM_001754.5(RUNX1):c.437A>T (p.Asn146Ile) rs1569079034
NM_001754.5(RUNX1):c.457_508+5dup rs1569078765
NM_001754.5(RUNX1):c.482T>A (p.Leu161His)
NM_001754.5(RUNX1):c.494_508+5dup rs1569078757
NM_001754.5(RUNX1):c.501del (p.Ser167fs) rs1569078799
NM_001754.5(RUNX1):c.502G>A (p.Gly168Arg) rs1569078784
NM_001754.5(RUNX1):c.504_508dup (p.Gly170fs) rs1569078774
NM_001754.5(RUNX1):c.509G>A (p.Gly170Glu)
NM_001754.5(RUNX1):c.532A>C (p.Thr178Pro) rs1569061931
NM_001754.5(RUNX1):c.554A>C (p.Gln185Pro) rs1569061888
NM_001754.5(RUNX1):c.567C>G (p.Tyr189Ter) rs1569061831
NM_001754.5(RUNX1):c.582A>C (p.Lys194Asn) rs1569061799
NM_001754.5(RUNX1):c.593A>C (p.Asp198Ala) rs1569061786
NM_001754.5(RUNX1):c.602G>A (p.Arg201Gln) rs74315450
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter) rs1569061768
NM_001754.5(RUNX1):c.690_691delinsAA (p.Leu231Met) rs1569037241
NM_001754.5(RUNX1):c.719del (p.Pro240fs) rs1569037127
NM_001754.5(RUNX1):c.805+12723_805+12724del
NM_001754.5(RUNX1):c.820del (p.Gln274fs) rs1569009004
NM_001754.5(RUNX1):c.968-10C>A rs1476636108

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