ClinVar Miner

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

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Total variants: 14
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HGVS dbSNP
CLN3, 3-KB DEL, NT928
CLN3, 6-KB DEL
CLN3, IVSDS, G-C, +1/76-BP DEL
NM_000086.2(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_000086.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697
NM_000086.2(CLN3):c.1198-1G>T rs386833702
NM_000086.2(CLN3):c.371_372insT (p.Ser125fs) rs587779397
NM_000086.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_000086.2(CLN3):c.460+376_677+388del
NM_000086.2(CLN3):c.461-279_677+384del rs1555468632
NM_000086.2(CLN3):c.461-280_677+382del rs1555468634
NM_000086.2(CLN3):c.790+532_1056+1445del
NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286
NM_000086.2(CLN3):c.944dup (p.His315fs) rs386833740

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