ClinVar Miner

List of variants reported as benign for adolescent-onset epilepsy syndrome by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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NM_000310.3(PPT1):c.363-4G>A rs117284255
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396
NM_000744.6(CHRNA4):c.1758+14A>G rs3827020
NM_000744.6(CHRNA4):c.189C>T (p.Leu63=) rs2273506
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834
NM_004287.4(GOSR2):c.-12G>C rs183199
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln) rs111656822
NM_005506.4(SCARB2):c.475A>G (p.Met159Val) rs143655258
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673

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