ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis 8 by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

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Total variants: 18
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HGVS dbSNP
NM_018941.3(CLN8):c.181_183del (p.Lys61del) rs386834123
NM_018941.3(CLN8):c.209G>A (p.Arg70His) rs386834124
NM_018941.3(CLN8):c.227A>G (p.Gln76Arg) rs386834125
NM_018941.3(CLN8):c.320T>G (p.Ile107Ser) rs386834126
NM_018941.3(CLN8):c.415C>T (p.His139Tyr) rs386834127
NM_018941.3(CLN8):c.464C>T (p.Ala155Val) rs386834128
NM_018941.3(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018941.3(CLN8):c.473A>G (p.Tyr158Cys) rs386834130
NM_018941.3(CLN8):c.507C>T (p.Ser169=) rs386834131
NM_018941.3(CLN8):c.509C>T (p.Thr170Met) rs188259026
NM_018941.3(CLN8):c.562_563delCT rs386834132
NM_018941.3(CLN8):c.581A>G (p.Gln194Arg) rs386834133
NM_018941.3(CLN8):c.611G>T (p.Arg204Leu) rs386834134
NM_018941.3(CLN8):c.637_639delTGG rs386834135
NM_018941.3(CLN8):c.661G>A (p.Gly221Ser) rs386834136
NM_018941.3(CLN8):c.66del (p.Ile23fs) rs34238807
NM_018941.3(CLN8):c.766C>G (p.Gln256Glu) rs386834138
NM_018941.3(CLN8):c.88del (p.Ala30fs) rs386834139

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