ClinVar Miner

List of variants studied for Ceroid lipofuscinosis neuronal 1 by Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics

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Total variants: 4

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HGVS	dbSNP
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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