ClinVar Miner

List of variants reported as benign for Neuronal ceroid lipofuscinosis 1 by Invitae

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Total variants: 5
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HGVS dbSNP
NM_000310.3(PPT1):c.535C>T (p.Arg179Cys) rs560471003
NM_000310.3(PPT1):c.627+4A>G rs572153728
NM_000310.3(PPT1):c.837G>C (p.Gln279His) rs72937434
NM_000310.4(PPT1):c.363-4G>A rs117284255
NM_000310.4(PPT1):c.537-16dup rs760997725

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