ClinVar Miner

List of variants in gene RUNX1 reported as benign for Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.614-34C>T rs11702841 0.99999
NM_001754.5(RUNX1):c.58+103A>G rs8133634 0.59069
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.*2474T>C rs56202419 0.04630
NM_001754.5(RUNX1):c.*559T>C rs73362827 0.04517
NM_001754.5(RUNX1):c.*1138C>A rs55744508 0.03659
NM_001754.5(RUNX1):c.*2285A>C rs75749444 0.03632
NM_001754.5(RUNX1):c.*70T>C rs150481777 0.03364
NM_001754.5(RUNX1):c.*3380A>G rs79122814 0.02995
NM_001754.5(RUNX1):c.*4032T>C rs78335539 0.02935
NM_001754.5(RUNX1):c.*2768A>C rs74950917 0.02722
NM_001754.5(RUNX1):c.*2770C>G rs75192893 0.02646
NM_001754.5(RUNX1):c.*3574A>G rs113375138 0.02560
NM_001754.5(RUNX1):c.*919A>G rs8131520 0.02318
NM_001754.5(RUNX1):c.*88G>T rs539980908 0.02200
NM_001754.5(RUNX1):c.*1012C>T rs55767668 0.01526
NM_001754.5(RUNX1):c.*484T>C rs147934675 0.01292
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.*2642A>G rs112327235 0.00961
NM_001754.5(RUNX1):c.*121G>C rs549844608 0.00871
NM_001754.5(RUNX1):c.*44C>G rs535532916 0.00869
NM_001754.5(RUNX1):c.*3060T>C rs76478380 0.00814
NM_001754.5(RUNX1):c.*1466G>A rs144796880 0.00809
NM_001754.5(RUNX1):c.*3619A>G rs139372063 0.00746
NM_001754.5(RUNX1):c.183G>A (p.Pro61=) rs76558016 0.00454
NM_001754.5(RUNX1):c.-89T>C rs77393863 0.00412
NM_001754.5(RUNX1):c.351+15A>G rs199881885 0.00396
NM_001754.5(RUNX1):c.*2886T>C rs140071395 0.00390
NM_001754.5(RUNX1):c.*2626A>G rs77550657 0.00387
NM_001754.5(RUNX1):c.*4238G>T rs138870671 0.00345
NM_001754.5(RUNX1):c.144C>T (p.Ser48=) rs147889692 0.00344
NM_001754.5(RUNX1):c.*613A>T rs191743993 0.00315
NM_001754.5(RUNX1):c.613+8C>T rs186585782 0.00300
NM_001754.5(RUNX1):c.*113C>T rs187995123 0.00245
NM_001754.5(RUNX1):c.*3444A>G rs183666715 0.00225
NM_001754.5(RUNX1):c.*3345A>T rs56151547 0.00203
NM_001754.5(RUNX1):c.303G>T (p.Val101=) rs142472642 0.00200
NM_001754.5(RUNX1):c.*4250C>T rs186103543 0.00110
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.648C>T (p.Pro216=) rs199759556 0.00021
NM_001754.5(RUNX1):c.*3582G>A rs193254325 0.00016
NM_001754.5(RUNX1):c.952T>G (p.Ser318Ala) rs545554349 0.00013
NM_001754.5(RUNX1):c.-135G>T rs140075488 0.00012
NM_001754.5(RUNX1):c.*1823A>C rs369678325 0.00011
NM_001754.5(RUNX1):c.1005G>T (p.Gln335His) rs80314254 0.00011
NM_001754.5(RUNX1):c.1062C>G (p.Thr354=) rs748629722 0.00010
NM_001754.5(RUNX1):c.*2329A>G rs529363958 0.00009
NM_001754.5(RUNX1):c.613+18G>C rs374732985 0.00009
NM_001754.5(RUNX1):c.492C>T (p.Val164=) rs200907577 0.00008
NM_001754.5(RUNX1):c.*683G>T rs575769251 0.00006
NM_001754.5(RUNX1):c.552G>T (p.Pro184=) rs752586117 0.00006
NM_001754.5(RUNX1):c.18A>G (p.Ile6Met) rs199929612 0.00005
NM_001754.5(RUNX1):c.1355T>G (p.Val452Gly) rs751710767 0.00004
NM_001754.5(RUNX1):c.36G>A (p.Ser12=) rs201490575 0.00004
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.*3090A>G rs77715740 0.00001
NM_001754.5(RUNX1):c.*429T>C rs533151594 0.00001
NM_001754.5(RUNX1):c.342C>A (p.Ile114=) rs201747706 0.00001
NM_001754.5(RUNX1):c.714C>T (p.Val238=) rs776056802 0.00001
NM_001754.5(RUNX1):c.824C>T (p.Pro275Leu) rs201164283 0.00001
NM_001754.5(RUNX1):c.*1213C>G rs373491098
NM_001754.5(RUNX1):c.*1360C>T rs190173314
NM_001754.5(RUNX1):c.*1720C>T rs568766039
NM_001754.5(RUNX1):c.*2533TG[10] rs371955155
NM_001754.5(RUNX1):c.*264C>T rs560356828
NM_001754.5(RUNX1):c.*4140C>T rs141693054
NM_001754.5(RUNX1):c.*569T>G rs573467458
NM_001754.5(RUNX1):c.*940G>A rs566702179
NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro) rs2056451534
NM_001754.5(RUNX1):c.1277_1278insCCCCCCCCCCC (p.Arg427fs) rs2056451263
NM_001754.5(RUNX1):c.1363del (p.Ala455fs)
NM_001754.5(RUNX1):c.165G>T (p.Ala55=)
NM_001754.5(RUNX1):c.170C>G (p.Pro57Arg) rs1266842690
NM_001754.5(RUNX1):c.170C>T (p.Pro57Leu) rs1266842690
NM_001754.5(RUNX1):c.393T>C (p.Thr131=) rs746650216

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