ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_017882.3(CLN6):c.198+104T>C
NM_017882.3(CLN6):c.250T>A (p.Tyr84Asn) rs1567096598
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412
NM_017882.3(CLN6):c.486+8C>T rs149692285
NM_017882.3(CLN6):c.552dup (p.Phe185fs) rs1567095153
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194
NM_018941.3(CLN8):c.1A>G (p.Met1Val) rs143730802
NM_018941.3(CLN8):c.792C>G (p.Asn264Lys) rs587779411

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