ClinVar Miner

Variants in gene RUNX1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
NM_001754.5(RUNX1):c.144C>T (p.Ser48=) rs147889692 0.00344
NM_001754.5(RUNX1):c.303G>T (p.Val101=) rs142472642 0.00200
NM_001754.5(RUNX1):c.654C>T (p.Ser218=) rs145230602 0.00063
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=) rs544247912 0.00040
NM_001754.5(RUNX1):c.648C>T (p.Pro216=) rs199759556 0.00021
NM_001754.5(RUNX1):c.18A>G (p.Ile6Met) rs199929612 0.00005
NM_001754.5(RUNX1):c.1355T>G (p.Val452Gly) rs751710767 0.00004
NM_001754.5(RUNX1):c.1415T>C (p.Leu472Pro) rs764689239 0.00002
NM_001754.5(RUNX1):c.65T>A (p.Ile22Lys) rs749430925 0.00002
NM_001754.5(RUNX1):c.824C>T (p.Pro275Leu) rs201164283 0.00001

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