ClinVar Miner

List of variants in gene RUNX1 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.183G>A (p.Pro61=) rs76558016 0.00454
NM_001754.5(RUNX1):c.144C>T (p.Ser48=) rs147889692 0.00344
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.1269C>T (p.Arg423=) rs544247912 0.00040
NM_001754.5(RUNX1):c.155T>A (p.Met52Lys) rs200431130 0.00028
NM_001754.5(RUNX1):c.1005G>T (p.Gln335His) rs80314254 0.00011
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.749G>A (p.Arg250His) rs771614642 0.00005
NM_001754.5(RUNX1):c.1338C>T (p.Leu446=) rs769628054 0.00004
NM_001754.5(RUNX1):c.1355T>G (p.Val452Gly) rs751710767 0.00004
NM_001754.5(RUNX1):c.56G>A (p.Arg19Lys) rs759078185 0.00004
NM_001754.5(RUNX1):c.1257G>A (p.Val419=) rs1172332120 0.00003
NM_001754.5(RUNX1):c.179C>T (p.Ala60Val) rs765314703 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.1415T>C (p.Leu472Pro) rs764689239 0.00002
NM_001754.5(RUNX1):c.65T>A (p.Ile22Lys) rs749430925 0.00002
NM_001754.5(RUNX1):c.1323G>C (p.Leu441=) rs1394924518 0.00001
NM_001754.5(RUNX1):c.146C>T (p.Pro49Leu) rs752298116 0.00001
NM_001754.5(RUNX1):c.352-1G>A rs587776809 0.00001
NM_001754.5(RUNX1):c.619C>T (p.Arg207Trp) rs1555890007 0.00001
NM_001754.5(RUNX1):c.729A>C (p.Pro243=) rs999807714 0.00001
NM_001754.5(RUNX1):c.1142_1145dup (p.Pro383fs) rs2145876252
NM_001754.5(RUNX1):c.1196G>T (p.Ser399Ile) rs946348885
NM_001754.5(RUNX1):c.1218C>T (p.Tyr406=) rs2056453805
NM_001754.5(RUNX1):c.1219T>A (p.Tyr407Asn) rs1262717333
NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro) rs2056451534
NM_001754.5(RUNX1):c.1396A>G (p.Met466Val) rs762213305
NM_001754.5(RUNX1):c.170C>T (p.Pro57Leu) rs1266842690
NM_001754.5(RUNX1):c.252C>G (p.Asp84Glu) rs2058000249
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.351+1G>A rs1060502579
NM_001754.5(RUNX1):c.508G>C (p.Gly170Arg) rs2146360175
NM_001754.5(RUNX1):c.557T>A (p.Val186Asp) rs797045927
NM_001754.5(RUNX1):c.59-12_59-11del rs762416613
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001754.5(RUNX1):c.830del (p.Pro277fs) rs2145909826
NM_001754.5(RUNX1):c.939_950del (p.Ala315_Ser318del) rs748122795
NM_001754.5(RUNX1):c.968C>T (p.Thr323Met) rs1039736738
NM_001754.5(RUNX1):c.999dup (p.Arg334fs) rs2145878129
NM_001754.5(RUNX1):c.99T>C (p.Asp33=) rs762090330

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