ClinVar Miner

List of variants studied for Ceroid lipofuscinosis neuronal 1 by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

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Total variants: 3

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HGVS	dbSNP
NM_000310.3(PPT1):c.363-4G>A	rs117284255
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter)	rs137852700
NM_000310.3(PPT1):c.904A>G (p.Ile302Val)	rs146902902

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