List of variants in gene CLN8 reported as likely pathogenic by Counsyl

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)	rs144495588	0.00004
NM_018941.4(CLN8):c.543+1G>T	rs756267448	0.00002
NM_018941.4(CLN8):c.209G>A (p.Arg70His)	rs386834124	0.00001
NM_018941.4(CLN8):c.283A>T (p.Lys95Ter)	rs759830733	0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)	rs104894060	0.00001
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)	rs746645358	0.00001
NM_018941.4(CLN8):c.204del (p.Thr69fs)	rs1554449028
NM_018941.4(CLN8):c.226C>T (p.Gln76Ter)	rs1554449047
NM_018941.4(CLN8):c.263del (p.Asp88fs)	rs1057516582
NM_018941.4(CLN8):c.2T>C (p.Met1Thr)	rs1554448874
NM_018941.4(CLN8):c.306G>A (p.Trp102Ter)	rs1554449124
NM_018941.4(CLN8):c.312G>A (p.Trp104Ter)	rs1554449136
NM_018941.4(CLN8):c.398T>A (p.Leu133Ter)	rs554042394
NM_018941.4(CLN8):c.47del (p.Leu16fs)	rs1057516867
NM_018941.4(CLN8):c.50del (p.Asp17fs)	rs1554448924
NM_018941.4(CLN8):c.544-2A>G	rs1554451484
NM_018941.4(CLN8):c.562_563del (p.Leu188fs)	rs386834132
NM_018941.4(CLN8):c.594del (p.His199fs)	rs1554451504
NM_018941.4(CLN8):c.763C>T (p.Gln255Ter)	rs746397087

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