ClinVar Miner

Variants in gene AFG3L2 with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val) rs912546325 0.00001
NM_006796.3(AFG3L2):c.1219G>A (p.Asp407Asn) rs2143171648
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) rs1598820805

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