ClinVar Miner

List of variants in gene combination CLN5, FBXL3 reported as pathogenic for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_006493.2(CLN5):c.1054G>T (p.Glu352Ter) rs121908292
NM_006493.2(CLN5):c.1103_1106delAACA (p.Lys368Serfs) rs386833967
NM_006493.2(CLN5):c.1121A>G (p.Tyr374Cys) rs148862100
NM_006493.2(CLN5):c.1175_1176delAT (p.Tyr392Terfs) rs386833969
NM_006493.2(CLN5):c.334delC (p.Arg112Valfs) rs1555273881
NM_006493.2(CLN5):c.335G>A (p.Arg112His) rs104894386
NM_006493.2(CLN5):c.377G>A (p.Cys126Tyr) rs267606738
NM_006493.2(CLN5):c.518delG (p.Ser173Ilefs) rs794729218
NM_006493.2(CLN5):c.524T>G (p.Leu175Ter) rs386833972
NM_006493.2(CLN5):c.595C>T (p.Arg199Ter) rs546989392
NM_006493.2(CLN5):c.657_661dup (p.Asp221Valfs) rs1555274005
NM_006493.2(CLN5):c.669dupC (p.Trp224Leufs) rs386833979
NM_006493.2(CLN5):c.672delG (p.Trp224Terfs) rs587780315
NM_006493.2(CLN5):c.694C>T (p.Gln232Ter) rs869312751
NM_006493.2(CLN5):c.713-42_*46del600 rs1555274312
NM_006493.2(CLN5):c.713_*1548del
NM_006493.2(CLN5):c.835G>A (p.Asp279Asn) rs28940280
NM_006493.2(CLN5):c.924_925delAT (p.Phe309Serfs) rs786204644
NM_006493.2(CLN5):c.935G>A (p.Ser312Asn) rs730882146
NM_006493.3(CLN5):c.431G>A (p.Cys144Tyr)

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