ClinVar Miner

List of variants reported as likely pathogenic for Ceroid lipofuscinosis neuronal 1 by Invitae

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Total variants: 4
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HGVS dbSNP
NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.627+1G>T rs1265044710
NM_000310.3(PPT1):c.798+1G>T rs878853929
NM_001142604.2(PPT1):c.125-2646CTT[2] rs386833637

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