ClinVar Miner

List of variants reported as likely pathogenic for Familial platelet disorder with associated myeloid malignancy

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Total variants: 18
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NM_001001890.3(RUNX1):c.598G>T (p.Glu200Ter) rs1555889984
NM_001754.4(RUNX1):c.1163C>A (p.Ser388Ter) rs1569002296
NM_001754.4(RUNX1):c.314A>C (p.His105Pro) rs1569084116
NM_001754.4(RUNX1):c.315C>A (p.His105Gln) rs1601528621
NM_001754.4(RUNX1):c.316T>A (p.Trp106Arg) rs1555899735
NM_001754.4(RUNX1):c.351+1G>C rs1060502579
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+2T>C rs1601515707
NM_001754.4(RUNX1):c.557T>A (p.Val186Asp) rs797045927
NM_001754.4(RUNX1):c.593A>T (p.Asp198Val) rs1569061786
NM_001754.5(RUNX1):c.506G>T (p.Arg169Ile)
NM_001754.5(RUNX1):c.596G>A (p.Gly199Glu)
NM_001754.5(RUNX1):c.844_856del (p.Asp282fs)

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