ClinVar Miner

List of variants in gene CLN3 reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_000086.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_000086.2(CLN3):c.1268C>A (p.Ser423Ter) rs386833706
NM_000086.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709
NM_000086.2(CLN3):c.265C>T (p.Arg89Ter) rs386833713
NM_000086.2(CLN3):c.631C>T (p.Gln211Ter) rs386833737

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