ClinVar Miner

List of variants in gene CLN3 reported as pathogenic for Neuronal ceroid lipofuscinosis

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Total variants: 12
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HGVS dbSNP
NC_000016.9:g.(?_28497286)_(28498251_?)del
NC_000016.9:g.(?_28497648)_(28497991_?)del
NC_000016.9:g.(?_28497668)_(28497971_?)del
NC_000016.9:g.(?_28498757)_(28503100_?)del
NM_000086.2(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_000086.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709
NM_000086.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_000086.2(CLN3):c.569dup (p.Ala191fs) rs386833732
NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_000086.2(CLN3):c.622dup (p.Ser208fs) rs386833736
NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286
NM_000086.2(CLN3):c.944dup (p.His315fs) rs386833740

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