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 (88):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000086.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617
NM_000310.3(PPT1):c.329A>G (p.Asn110Ser) rs142894102
NM_000310.3(PPT1):c.535C>T (p.Arg179Cys) rs560471003
NM_000744.7(CHRNA4):c.496A>T (p.Thr166Ser) rs1568810867
NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu) rs1064796396
NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln) rs779199533
NM_001134407.3(GRIN2A):c.2929A>C (p.Asn977His) rs776506065
NM_002087.3(GRN):c.1438C>T (p.His480Tyr) rs770058074
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser) rs371816961
NM_006277.3(ITSN2):c.4208A>G (p.Asp1403Gly) rs1553340826
NM_006493.4(CLN5):c.208T>C (p.Cys70Arg) rs1593910113
NM_006493.4(CLN5):c.398T>G (p.Met133Arg) rs1419308949
NM_006545.5(NPRL2):c.602A>C (p.Asp201Ala) rs202157450
NM_017882.3(CLN6):c.297+113G>C rs553192210
NM_018941.3(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) rs373365707
NM_152778.3(MFSD8):c.935T>C (p.Ile312Thr) rs556875684
NM_153033.4(KCTD7):c.677G>C (p.Cys226Ser) rs1554300943

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