ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Unité de Différenciation Epithéliale et Auto-Immunité Rhumatoïde, INSERM - Université Paul Sabatier and "pathogenic" from any submitter

Minimum review status of the submission from Unité de Différenciation Epithéliale et Auto-Immunité Rhumatoïde, INSERM - Université Paul Sabatier: Collection method of the submission from Unité de Différenciation Epithéliale et Auto-Immunité Rhumatoïde, INSERM - Université Paul Sabatier:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1
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HGVS dbSNP gnomAD frequency
NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro) rs781053760 0.00003

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