ClinVar Miner

List of variants reported as pathogenic for neuronal ceroid lipofuscinosis by Courtagen Diagnostics Laboratory, Courtagen Life Sciences

Included ClinVar conditions (26):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000391.4(TPP1):c.509-1G>C	rs56144125	0.00053
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	rs137852700	0.00038

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