ClinVar Miner

List of variants studied for childhood-onset epilepsy syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060 0.00145
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617 0.00029
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) rs373365707 0.00004
NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu) rs1064796396 0.00001
NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln) rs779199533 0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 0.00001
NM_000744.7(CHRNA4):c.496A>T (p.Thr166Ser) rs1568810867
NM_001134407.3(GRIN2A):c.2929A>C (p.Asn977His) rs776506065
NM_001271.4(CHD2):c.4297A>G (p.Lys1433Glu) rs1567160905
NM_006277.3(ITSN2):c.4208A>G (p.Asp1403Gly) rs1553340826
NM_006545.5(NPRL2):c.602A>C (p.Asp201Ala) rs202157450
NM_014467.3(SRPX2):c.1183C>T (p.Gln395Ter) rs771849296
NM_021267.5(CERS1):c.274C>T (p.Gln92Ter) rs561672108
NM_153033.5(KCTD7):c.677G>C (p.Cys226Ser) rs1554300943

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