List of variants in gene CLN3 reported as pathogenic by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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_001042432.2(CLN3):c.883G>A (p.Glu295Lys)	rs121434286	0.00003
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)	rs386833697	0.00002
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)	rs765893479	0.00002
NM_001042432.2(CLN3):c.295-2A>G
NM_001042432.2:c.(460+1_461-1)_(677+1_678-1)del

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