List of variants in gene CLN3 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 7

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 16p11.2(chr16:28497668-28497971)x1
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter)	rs386833701
NM_001042432.2(CLN3):c.1197+2T>A	rs2046020472
NM_001042432.2(CLN3):c.460+1G>A	rs1397086223
NM_001042432.2(CLN3):c.678-2A>G	rs2046162412
NM_001042432.2(CLN3):c.922_923del (p.Phe308fs)	rs2046113301
NM_001042432.2(CLN3):c.954_962+18del	rs386833741

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