ClinVar Miner

List of variants reported as likely pathogenic for childhood-onset epilepsy syndrome by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter) rs746975723
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001134407.3(GRIN2A):c.1678ATG[1] (p.Met561del) rs1057519248
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala) rs1555492758
NM_001271.4(CHD2):c.3454C>G (p.Arg1152Gly) rs1596443241
NM_003042.4(SLC6A1):c.149G>T (p.Arg50Leu) rs766945941
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006545.5(NPRL2):c.232C>T (p.Arg78Cys)
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304

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