ClinVar Miner

List of variants reported as likely pathogenic for Neuronal ceroid lipofuscinosis 8 by Counsyl

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Total variants: 19
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HGVS dbSNP
NM_018941.3(CLN8):c.204del (p.Thr69fs) rs1554449028
NM_018941.3(CLN8):c.209G>A (p.Arg70His) rs386834124
NM_018941.3(CLN8):c.226C>T (p.Gln76Ter) rs1554449047
NM_018941.3(CLN8):c.263del (p.Asp88fs) rs1057516582
NM_018941.3(CLN8):c.283A>T (p.Lys95Ter) rs759830733
NM_018941.3(CLN8):c.2T>C (p.Met1Thr) rs1554448874
NM_018941.3(CLN8):c.306G>A (p.Trp102Ter) rs1554449124
NM_018941.3(CLN8):c.312G>A (p.Trp104Ter) rs1554449136
NM_018941.3(CLN8):c.398T>A (p.Leu133Ter) rs554042394
NM_018941.3(CLN8):c.47del (p.Leu16fs) rs1057516867
NM_018941.3(CLN8):c.499G>T (p.Glu167Ter) rs144495588
NM_018941.3(CLN8):c.50del (p.Asp17fs) rs1554448924
NM_018941.3(CLN8):c.543+1G>T rs756267448
NM_018941.3(CLN8):c.544-2A>G rs1554451484
NM_018941.3(CLN8):c.562_563delCT rs386834132
NM_018941.3(CLN8):c.594del (p.His199fs) rs1554451504
NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) rs104894060
NM_018941.3(CLN8):c.709G>A (p.Gly237Arg) rs746645358
NM_018941.3(CLN8):c.763C>T (p.Gln255Ter) rs746397087

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