ClinVar Miner

List of variants in gene CLN6 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: 16
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HGVS dbSNP
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_017882.2(CLN6):c.150C>G (p.Tyr50Ter) rs154774640
NM_017882.2(CLN6):c.1A>G (p.Met1Val) rs1555440206
NM_017882.2(CLN6):c.297+113G>C rs553192210
NM_017882.2(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.2(CLN6):c.486+1G>A rs756522171
NM_017882.2(CLN6):c.498dup (p.Glu167Terfs) rs762902907
NM_017882.2(CLN6):c.542+1G>T rs1555438614
NM_017882.2(CLN6):c.543G>A (p.Trp181Ter) rs1555438443
NM_017882.2(CLN6):c.665G>A (p.Trp222Ter) rs1555438411
NM_017882.2(CLN6):c.766_770del5 (p.Asp256Glnfs) rs1555438234
NM_017882.2(CLN6):c.786_787dup (p.Phe263Serfs) rs1555438229
NM_017882.2(CLN6):c.83+2T>G rs1555440188
NM_017882.2(CLN6):c.837G>A (p.Trp279Ter) rs1555438212
NM_017882.2(CLN6):c.890delC (p.Pro297Leufs) rs154774639
NM_017882.2(CLN6):c.896C>T (p.Pro299Leu) rs758921701

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