ClinVar Miner

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

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NC_000021.8:g.(?_36206697)_(36206908_?)del
NC_000021.9:g.(?_34787801)_(34799462_?)del
NM_001754.4(RUNX1):c.509-?_613+?del
NM_001754.5(RUNX1):c.1003C>T (p.Gln335Ter) rs1569002881
NM_001754.5(RUNX1):c.1036dup (p.Arg346fs) rs1601333612
NM_001754.5(RUNX1):c.1210del (p.His404fs)
NM_001754.5(RUNX1):c.1242C>G (p.Tyr414Ter) rs2056452818
NM_001754.5(RUNX1):c.268del (p.Val90fs) rs2146409966
NM_001754.5(RUNX1):c.280A>C (p.Ser94Arg) rs1057523598
NM_001754.5(RUNX1):c.281G>C (p.Ser94Thr)
NM_001754.5(RUNX1):c.314A>C (p.His105Pro) rs1569084116
NM_001754.5(RUNX1):c.389T>A (p.Val130Asp) rs2146363217
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln) rs1060499616
NM_001754.5(RUNX1):c.506G>T (p.Arg169Ile) rs2057883934
NM_001754.5(RUNX1):c.508+1G>A rs1601515718
NM_001754.5(RUNX1):c.508+2T>C rs1601515707
NM_001754.5(RUNX1):c.508_508+10del
NM_001754.5(RUNX1):c.566_584dup (p.Thr196fs) rs2146235138
NM_001754.5(RUNX1):c.592G>T (p.Asp198Tyr)
NM_001754.5(RUNX1):c.596G>A (p.Gly199Glu) rs2057541040
NM_001754.5(RUNX1):c.613+1G>A
NM_001754.5(RUNX1):c.679G>T (p.Glu227Ter) rs1555889984
NM_001754.5(RUNX1):c.735del (p.Thr246fs) rs2146075448
NM_001754.5(RUNX1):c.805+1G>T rs2146074371
NM_001754.5(RUNX1):c.806-1G>A
NM_001754.5(RUNX1):c.806-1G>T
NM_001754.5(RUNX1):c.965C>G (p.Ser322Ter) rs2145906974
NM_001754.5(RUNX1):c.968-10C>A rs1476636108

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