List of variants in gene CLN6 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly)	rs143781303	0.00001
NM_017882.3(CLN6):c.198+1G>A	rs886039727
NM_017882.3(CLN6):c.1_11del (p.Met1fs)
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)	rs104894483
NM_017882.3(CLN6):c.297+1G>A	rs796052351
NM_017882.3(CLN6):c.395_396del (p.Ser132fs)	rs774543080
NM_017882.3(CLN6):c.486+2T>C	rs796052355
NM_017882.3(CLN6):c.665+1G>A	rs796052356

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