ClinVar Miner

Variants in gene ABCA12 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: 1
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.179G>C (p.Arg60Pro) rs762065937

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