ClinVar Miner

List of variants in gene CLN3 reported as pathogenic by Counsyl

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001042432.1(CLN3):c.1054C>T (p.Gln352Ter) rs386833697
NM_001042432.1(CLN3):c.1198-1G>T rs386833702
NM_001042432.1(CLN3):c.424delG (p.Val142Leufs) rs386833720
NM_001042432.1(CLN3):c.461-280_677+383del rs1555468632

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