ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP
NC_000021.9:g.(?_34787801)_(34799462_?)del
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)
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
NM_001754.4(RUNX1):c.509-?_613+?del
NM_001754.4(RUNX1):c.557T>A (p.Val186Asp) rs797045927
NM_001754.4(RUNX1):c.679G>T (p.Glu227Ter) rs1555889984

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