ClinVar Miner

List of variants reported as benign for Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 by ClinGen Myeloid Malignancy Variant Curation Expert Panel

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.614-34C>T rs11702841 0.99999
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.*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.*3574A>G rs113375138 0.02560
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
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.*3345A>T rs56151547 0.00203
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.1005G>T (p.Gln335His) rs80314254 0.00011
NM_001754.5(RUNX1):c.1355T>G (p.Val452Gly) rs751710767 0.00004
NM_001754.5(RUNX1):c.65T>A (p.Ile22Lys) rs749430925 0.00002
NM_001754.5(RUNX1):c.824C>T (p.Pro275Leu) rs201164283 0.00001
NM_001754.5(RUNX1):c.*2533TG[10] rs371955155

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