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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NM_173676.2(PNPLA1):c.-20C>T rs922934422
NM_173676.2(PNPLA1):c.133T>C (p.Ser45Pro) rs781053760
NM_173676.2(PNPLA1):c.50C>A (p.Ser17Tyr) rs369445146
NM_173676.2(PNPLA1):c.535del (p.Arg179fs) rs1170446813
NM_173676.2(PNPLA1):c.65C>T (p.Thr22Met) rs371307766

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