ClinVar Miner

List of variants in gene RUNX1 reported as pathogenic for Familial platelet disorder with associated myeloid malignancy

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Total variants: 20
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HGVS dbSNP
NC_000021.8:g.(?_36421129)_(36421595_?)del
NC_000021.9:g.(?_34787801)_(34799462_?)del
NC_000021.9:g.(?_35048836)_(35048905_?)del
NM_001754.4(RUNX1):c.1408_1409GC[4] (p.Leu472fs) rs1555884790
NM_001754.4(RUNX1):c.166_193dup (p.Ala65fs) rs1569084530
NM_001754.4(RUNX1):c.215_216dup (p.Ser73fs) rs1555899813
NM_001754.4(RUNX1):c.289_299delinsCTCCTTCCGCTG (p.Phe97fs)
NM_001754.4(RUNX1):c.328A>G (p.Lys110Glu) rs121912498
NM_001754.4(RUNX1):c.352-1G>A rs587776809
NM_001754.4(RUNX1):c.352-1G>T rs587776809
NM_001754.4(RUNX1):c.400G>C (p.Ala134Pro) rs74315451
NM_001754.4(RUNX1):c.442_449del (p.Thr148fs) rs587776811
NM_001754.4(RUNX1):c.467C>A (p.Ala156Glu) rs267607026
NM_001754.4(RUNX1):c.497G>A (p.Arg166Gln) rs1060499616
NM_001754.4(RUNX1):c.508+3del rs587776810
NM_001754.4(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001754.4(RUNX1):c.602G>A (p.Arg201Gln) rs74315450
NM_001754.4(RUNX1):c.610C>T (p.Arg204Ter) rs1569061768
NM_001754.4(RUNX1):c.679G>T (p.Glu227Ter) rs1555889984
NM_001754.4(RUNX1):c.861C>A (p.Tyr287Ter) rs121912499

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