ClinVar Miner

List of variants reported as likely pathogenic for neuronal ceroid lipofuscinosis by Lifecell International Pvt. Ltd

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu)	rs878853322
NM_017882.3(CLN6):c.185G>A (p.Arg62His)	rs751486476
NM_153033.5(KCTD7):c.207_214del (p.Cys71fs)

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