List of variants in gene CLN3 reported as pathogenic by GeneDx

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)	rs139842473	0.00008
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)	rs386833697	0.00002
NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter)	rs796052335	0.00001
GRCh37/hg19 16p11.2(chr16:28497795-28498122)x1
GRCh37/hg19 16p11.2(chr16:28497795-28498182)x1
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter)	rs386833700
NM_001042432.2(CLN3):c.569dup (p.Ala191fs)	rs386833732
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)	rs267606737
NM_001042432.2(CLN3):c.784A>T (p.Lys262Ter)	rs1064794233
NM_001042432.2(CLN3):c.816_817del (p.Glu273fs)	rs886041546
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)	rs121434286

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