ClinVar Miner

List of variants in gene RUNX1 reported as likely pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.319C>T (p.Arg107Cys) rs2057998063
NM_001754.5(RUNX1):c.508G>C (p.Gly170Arg) rs2146360175
NM_001754.5(RUNX1):c.830del (p.Pro277fs) rs2145909826
NM_001754.5(RUNX1):c.999dup (p.Arg334fs) rs2145878129

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