ClinVar Miner

List of variants studied for epilepsy by Center of Genomic medicine, Geneva, University Hospital of Geneva

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.791A>G (p.Tyr264Cys) rs1316686443 0.00001
NM_016023.5(OTUD6B):c.839C>T (p.Ser280Leu) rs1391158579 0.00001
NM_000742.4(CHRNA2):c.959C>A (p.Ser320Tyr) rs760884840
NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp) rs1060499659
NM_001032221.6(STXBP1):c.1006C>T (p.Gln336Ter) rs1057519501
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001122752.2(SERPINI1):c.1174G>A (p.Gly392Arg) rs121909054
NM_001122752.2(SERPINI1):c.1175G>A (p.Gly392Glu) rs121909053
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001242896.3(DEPDC5):c.727C>T (p.Arg243Ter) rs772872014
NM_001323289.2(CDKL5):c.2359_2363del (p.Lys787fs) rs1555954078
NM_001323289.2(CDKL5):c.747dup (p.Pro250fs) rs875989880
NM_001323289.2(CDKL5):c.751delinsTC (p.Ala251fs) rs1555951141
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_002641.4(PIGA):c.1183G>A (p.Glu395Lys) rs1060499666
NM_006516.4(SLC2A1):c.1033_1042del (p.Ala345fs) rs1553155973
NM_006516.4(SLC2A1):c.388G>A (p.Gly130Ser) rs80359819
NM_006516.4(SLC2A1):c.844_855del (p.Gln282_Ser285del) rs1553156047
NM_006772.3(SYNGAP1):c.1925A>C (p.Lys642Thr) rs1485749468
NM_006772.3(SYNGAP1):c.2578_2579del (p.Val860fs) rs879253762
NM_016023.5(OTUD6B):c.381_388del (p.Leu127fs)
NM_020361.5(CPA6):c.994T>C (p.Tyr332His) rs1554662194
NM_172107.4(KCNQ2):c.1610_1615del (p.Lys537_Val538del) rs1555853977
NM_172107.4(KCNQ2):c.1639C>G (p.Arg547Gly) rs796052650
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974

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