ClinVar Miner

List of variants in gene CLN3 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 10
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GRCh37/hg19 16p11.2(chr16:28497795-28498122)x1
GRCh37/hg19 16p11.2(chr16:28497795-28498182)x1
NM_000086.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697
NM_000086.2(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_000086.2(CLN3):c.240del (p.Pro81fs) rs748710466
NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_000086.2(CLN3):c.784A>T (p.Lys262Ter) rs1064794233
NM_000086.2(CLN3):c.816_817del (p.Glu273fs) rs886041546
NM_000086.2(CLN3):c.949C>T (p.Gln317Ter) rs796052335
NM_000086.2(CLN3):c.988G>A (p.Val330Ile) rs386833744

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