List of variants in gene PPT1 reported as uncertain significance for Neuronal Ceroid-Lipofuscinosis, Recessive

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

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000310.4(PPT1):c.*998G>C	rs909689539	0.00015
NM_000310.4(PPT1):c.*812C>T	rs761216672	0.00005
NM_000310.4(PPT1):c.*474T>C	rs1057515555	0.00001
NM_000310.4(PPT1):c.*1286AAG[1]	rs111872097
NM_000310.4(PPT1):c.*1300dup	rs1057515553

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