ClinVar Miner

List of variants in gene CLN3 reported by Molecular Genetics Laboratory, Institute for Ophthalmic Research

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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001042432.2(CLN3):c.1197+2T>A rs2046020472
NM_001042432.2(CLN3):c.370del (p.Tyr124fs) rs1555468920
NM_001042432.2(CLN3):c.676A>G (p.Ser226Gly) rs1555468695
NM_001042432.2(CLN3):c.922_923del (p.Phe308fs) rs2046113301

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