ClinVar Miner

List of variants reported as pathogenic for adult neuronal ceroid lipofuscinosis by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (9):

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_003793.4(CTSF):c.843_844del (p.Ala282fs)	rs1555058286
NM_003793.4(CTSF):c.962A>G (p.Gln321Arg)	rs397514731
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)	rs768422260

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