ClinVar Miner

List of variants reported as uncertain significance for Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.*3721A>T rs188246960 0.00168
NM_001754.5(RUNX1):c.*3021A>G rs547268403 0.00063
NM_001754.5(RUNX1):c.*933T>C rs559096806 0.00043
NM_001754.5(RUNX1):c.*1096A>C rs528969148 0.00037
NM_001754.5(RUNX1):c.*2005A>G rs115087797 0.00031
NM_001754.5(RUNX1):c.*3417A>G rs529009591 0.00028
NM_001754.5(RUNX1):c.*2840A>T rs188812411 0.00027
NM_001754.5(RUNX1):c.*3580T>G rs373937576 0.00024
NM_001754.5(RUNX1):c.*195C>T rs1464816967 0.00019
NM_001754.5(RUNX1):c.*436G>C rs369123316 0.00019
NM_001754.5(RUNX1):c.-59-10C>T rs578080277 0.00018
NM_001754.5(RUNX1):c.*107G>A rs886057045 0.00017
NM_001754.5(RUNX1):c.*1430C>A rs886057043 0.00013
NM_001754.5(RUNX1):c.*2532G>A rs886057037 0.00012
NM_001754.5(RUNX1):c.*2217dup rs750408603 0.00011
NM_001754.5(RUNX1):c.*2376G>A rs572680643 0.00010
NM_001754.5(RUNX1):c.*2531C>T rs112662011 0.00010
NM_001754.5(RUNX1):c.*4188G>C rs761390141 0.00010
NM_001754.5(RUNX1):c.*1788A>G rs529044293 0.00009
NM_001754.5(RUNX1):c.*2366G>A rs886057039 0.00006
NM_001754.5(RUNX1):c.*1078A>G rs983432717 0.00005
NM_001754.5(RUNX1):c.*3944G>A rs751695710 0.00005
NM_001754.4(RUNX1):c.97+4T>G rs754042987 0.00004
NM_001754.5(RUNX1):c.*1158C>G rs1197649398 0.00004
NM_001754.5(RUNX1):c.*2320T>G rs886057040 0.00004
NM_001754.5(RUNX1):c.*3229C>T rs886057032 0.00004
NM_001754.5(RUNX1):c.-132G>C rs758735909 0.00004
NM_001754.5(RUNX1):c.59-12C>G rs202245096 0.00004
NM_001754.5(RUNX1):c.*2347C>A rs984388295 0.00003
NM_001754.5(RUNX1):c.*316G>T rs899596480 0.00003
NM_001754.5(RUNX1):c.*3277G>T rs187846118 0.00003
NM_001754.5(RUNX1):c.*4147C>G rs886057029 0.00003
NM_001754.5(RUNX1):c.*68G>T rs886057046 0.00003
NM_001754.5(RUNX1):c.585C>T (p.Ile195=) rs2057541413 0.00003
NM_001754.5(RUNX1):c.*2822C>T rs867689771 0.00002
NM_001754.5(RUNX1):c.667G>A (p.Glu223Lys) rs878854468 0.00002
NM_001754.5(RUNX1):c.*134C>T rs1004564780 0.00001
NM_001754.5(RUNX1):c.*1400G>A rs1320740761 0.00001
NM_001754.5(RUNX1):c.*2780A>G rs886057034 0.00001
NM_001754.5(RUNX1):c.*3138C>G rs886057033 0.00001
NM_001754.5(RUNX1):c.*3297T>C rs144175289 0.00001
NM_001754.5(RUNX1):c.*3557C>T rs1046862110 0.00001
NM_001754.5(RUNX1):c.*3588G>C rs886057031 0.00001
NM_001754.5(RUNX1):c.*3638G>A rs1568997203 0.00001
NM_001754.5(RUNX1):c.*587T>A rs753931767 0.00001
NM_001754.5(RUNX1):c.764A>G (p.His255Arg) rs746977462 0.00001
NM_001754.5(RUNX1):c.981G>C (p.Leu327=) rs376269814 0.00001
NM_001754.5(RUNX1):c.*1293A>G rs2056425227
NM_001754.5(RUNX1):c.*1295G>A rs866560376
NM_001754.5(RUNX1):c.*1455A>G rs886057042
NM_001754.5(RUNX1):c.*1938C>T rs886057041
NM_001754.5(RUNX1):c.*1967G>A rs1173833929
NM_001754.5(RUNX1):c.*2201T>G rs902401401
NM_001754.5(RUNX1):c.*2517TG[8] rs139307340
NM_001754.5(RUNX1):c.*2594_*2597del rs886057036
NM_001754.5(RUNX1):c.*260C>A rs963200707
NM_001754.5(RUNX1):c.*2678A>G rs886057035
NM_001754.5(RUNX1):c.*267C>A rs1014918053
NM_001754.5(RUNX1):c.*2912A>G rs2056405969
NM_001754.5(RUNX1):c.*3028T>C rs1601327092
NM_001754.5(RUNX1):c.*3281G>T rs2056401435
NM_001754.5(RUNX1):c.*3642C>T rs2056396161
NM_001754.5(RUNX1):c.*4003C>T rs886057030
NM_001754.5(RUNX1):c.*463C>T rs1601330615
NM_001754.5(RUNX1):c.*467T>C rs2056436218
NM_001754.5(RUNX1):c.*682dup rs886057044
NM_001754.5(RUNX1):c.*801A>C rs1352217442
NM_001754.5(RUNX1):c.*821G>A rs968985577
NM_001754.5(RUNX1):c.*917del rs780068987
NM_001754.5(RUNX1):c.-62G>A rs550878860
NM_001754.5(RUNX1):c.-67G>A rs886057048
NM_001754.5(RUNX1):c.1004A>G (p.Gln335Arg) rs928106783
NM_001754.5(RUNX1):c.1422G>T (p.Glu474Asp) rs886057047
NM_001754.5(RUNX1):c.164C>A (p.Ala55Glu) rs1473182680
NM_001754.5(RUNX1):c.736A>G (p.Thr246Ala) rs2057112296

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