ClinVar Miner

List of variants in gene RUNX1 reported as pathogenic by Preventiongenetics, part of Exact Sciences

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln) rs1569061762 0.00001
NM_001754.4(RUNX1):c.352-1G>T rs587776809
NM_001754.5(RUNX1):c.1036del (p.Arg346fs)
NM_001754.5(RUNX1):c.184_187dup (p.Ala63fs)
NM_001754.5(RUNX1):c.240_241del (p.Glu80fs) rs1569084388
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.328A>G (p.Lys110Glu) rs121912498
NM_001754.5(RUNX1):c.330G>C (p.Lys110Asn) rs1569084082
NM_001754.5(RUNX1):c.351+1G>A rs1060502579
NM_001754.5(RUNX1):c.567C>G (p.Tyr189Ter) rs1569061831
NM_001754.5(RUNX1):c.602G>A (p.Arg201Gln) rs74315450
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter) rs1569061768

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