ClinVar Miner

List of variants in gene CLN3 reported as likely pathogenic by GeneDx

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.1004C>A (p.Ser335Tyr) rs765157752
NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_000086.2(CLN3):c.141del (p.Leu46_Cys47insTer) rs1064795153
NM_000086.2(CLN3):c.750del (p.Gln251fs) rs1064796502
NM_000086.2(CLN3):c.962+3A>T rs796052336

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