ClinVar Miner

List of variants in gene CLN5 reported as likely pathogenic for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_006493.4(CLN5):c.119del (p.Gly40fs) rs1555273609
NM_006493.4(CLN5):c.131_132TC[1] (p.Ser45fs) rs780198002
NM_006493.4(CLN5):c.144dup (p.Ser49fs) rs386833970
NM_006493.4(CLN5):c.155_167del (p.His52fs) rs1057517134
NM_006493.4(CLN5):c.18del (p.Asp6fs) rs1555273567
NM_006493.4(CLN5):c.73_74delinsG (p.Ser25fs) rs1057516814

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