ClinVar Miner

Variants in gene RUNX1 with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.1036dup (p.Arg346fs) rs1601333612
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.5(RUNX1):c.965C>G (p.Ser322Ter) rs2145906974

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