ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP
NM_018941.3(CLN8):c.-123-1G>C rs1554448791
NM_018941.3(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018941.3(CLN8):c.470A>G (p.His157Arg) rs149308952
NM_018941.3(CLN8):c.611G>A (p.Arg204His) rs386834134
NM_018941.3(CLN8):c.681T>A (p.Tyr227Ter) rs1554451561
NM_018941.3(CLN8):c.806A>T (p.Glu269Val) rs139003032

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