ClinVar Miner

List of variants in gene CLN3 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_000086.2(CLN3):c.(374+1_375-1)_(533+1_534-1)del
NM_001042432.2(CLN3):c.379del (p.Arg127fs) rs386833717

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