ClinVar Miner

List of variants reported as likely pathogenic by Unité de Différenciation Epithéliale et Auto-Immunité Rhumatoïde,INSERM - Université Paul Sabatier

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Total variants: 5
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HGVS dbSNP
NM_001145717.1(PNPLA1):c.266C>T (p.Pro89Leu) rs922934422
NM_001145717.1(PNPLA1):c.335C>A (p.Ser112Tyr) rs369445146
NM_001145717.1(PNPLA1):c.350C>T (p.Thr117Met) rs371307766
NM_001145717.1(PNPLA1):c.418T>C (p.Ser140Pro) rs781053760
NM_001145717.1(PNPLA1):c.820_820delC (p.Arg274Glyfs) rs1170446813

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