ClinVar Miner

Variants in gene EGR2 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: 9
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HGVS dbSNP gnomAD frequency
NM_000399.5(EGR2):c.627A>G (p.Pro209=) rs224083 0.01586
NM_000399.5(EGR2):c.1399G>C (p.Ala467Pro) rs146116229 0.00148
NM_000399.5(EGR2):c.909A>C (p.Ala303=) rs112474655 0.00101
NM_000399.5(EGR2):c.246C>G (p.Val82=) rs144217451 0.00078
NM_000399.5(EGR2):c.534A>G (p.Ala178=) rs370084216 0.00030
NM_000399.5(EGR2):c.174C>T (p.Gly58=) rs143793213 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_000399.5(EGR2):c.1020C>T (p.Tyr340=) rs554727782 0.00006
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272

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