ClinVar Miner

List of variants reported as uncertain significance for adolescent-onset epilepsy syndrome by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000310.3(PPT1):c.329A>G (p.Asn110Ser) rs142894102
NM_000310.3(PPT1):c.535C>T (p.Arg179Cys) rs560471003
NM_000391.3(TPP1):c.1205A>G (p.Glu402Gly) rs1471156821
NM_000744.6(CHRNA4):c.496A>T (p.Thr166Ser)
NM_000748.2(CHRNB2):c.317G>A (p.Arg106Gln)
NM_000833.4(GRIN2A):c.2929A>C (p.Asn977His) rs776506065
NM_005076.4(CNTN2):c.1075C>A (p.Arg359Ser) rs371816961
NM_006493.2(CLN5):c.545T>G (p.Met133Arg)
NM_006545.4(NPRL2):c.602A>C (p.Asp201Ala) rs202157450
NM_018941.3(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_020822.2(KCNT1):c.3059G>A (p.Arg1020His) rs373365707
NM_152778.2(MFSD8):c.935T>C (p.Ile312Thr) rs556875684
NM_153033.4(KCTD7):c.677G>C (p.Cys226Ser) rs1554300943

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