ClinVar Miner

List of variants in gene CLN8 reported as pathogenic for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NC_000008.11:g.(?_1771035)_(1780587_?)del
NM_018941.3(CLN8):c.181_183del (p.Lys61del) rs386834123
NM_018941.3(CLN8):c.1A>G (p.Met1Val) rs143730802
NM_018941.3(CLN8):c.499G>T (p.Glu167Ter) rs144495588
NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) rs104894060
NM_018941.3(CLN8):c.66delG (p.Ile23Serfs) rs34238807
NM_018941.3(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_018941.3(CLN8):c.789G>C (p.Trp263Cys) rs28940569
NM_018941.3(CLN8):c.792C>G (p.Asn264Lys) rs587779411
NM_018941.3(CLN8):c.88G>C (p.Ala30Pro) rs137852883
NM_018941.3(CLN8):c.88delG (p.Ala30Leufs) rs386834139

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