ClinVar Miner

List of variants studied for Ceroid lipofuscinosis neuronal 1 by Fulgent Genetics,Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter)	rs137852700
NM_000310.3(PPT1):c.628G>C (p.Gly210Arg)
NM_000310.3(PPT1):c.802C>T (p.Arg268Cys)	rs200813294
NM_000310.3(PPT1):c.904A>G (p.Ile302Val)	rs146902902

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