ClinVar Miner

List of variants in gene CLN8 reported as pathogenic for Neuronal ceroid lipofuscinosis 8

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Total variants: 10
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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.209G>A (p.Arg70His) rs386834124
NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) rs104894060
NM_018941.3(CLN8):c.66del (p.Ile23fs) 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.88G>C (p.Ala30Pro) rs137852883
NM_018941.3(CLN8):c.88del (p.Ala30fs) rs386834139
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) rs587779411

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