ClinVar Miner

List of variants in gene PPT1 reported as likely pathogenic by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Gene type:
ClinVar version:
Total variants: 4
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NM_000310.3(PPT1):c.133T>C (p.Cys45Arg) rs878853323
NM_000310.3(PPT1):c.532delG (p.Glu178Asnfs) rs878853325
NM_000310.3(PPT1):c.707T>A (p.Val236Glu) rs878853324
NM_000310.3(PPT1):c.713C>T (p.Pro238Leu) rs878853322

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