ClinVar Miner

List of variants studied for epilepsy by Molecular Genetics Lab, CHRU Brest

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.2537G>A (p.Arg846Gln) rs1429234959 0.00001
NC_000012.11:g.52199766_52388207del
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_000834.5(GRIN2B):c.4208C>G (p.Ser1403Cys)
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys) rs1553923787
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys) rs587777310
NM_001040142.2(SCN2A):c.4309-2A>G
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.450G>C (p.Leu150Phe)
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile) rs2056767062
NM_001130438.3(SPTAN1):c.3292C>T (p.Arg1098Cys) rs1853920585
NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)
NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)
NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile) rs587777849
NM_005249.5(FOXG1):c.765G>C (p.Trp255Cys)
NM_006306.4(SMC1A):c.2299del (p.Glu767fs)
NM_006306.4(SMC1A):c.298+2T>C
NM_006306.4(SMC1A):c.3118G>A (p.Glu1040Lys)
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_007327.4(GRIN1):c.1904T>G (p.Val635Gly)
NM_014795.4(ZEB2):c.2635_2649delinsTAA (p.Ser879_Val883delinsTer)
NM_024818.6(UBA5):c.542G>A (p.Cys181Tyr)
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup) rs398124510
NM_172107.4(KCNQ2):c.715G>A (p.Gly239Ser)
NM_183381.3(RNF13):c.881_882del (p.Asp293_Ser294insTer) rs2108622234

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