ClinVar Miner

List of variants reported as uncertain significance for childhood-onset epilepsy syndrome by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001134407.3(GRIN2A):c.964G>A (p.Gly322Arg) rs374637415 0.00001
NM_001134407.3(GRIN2A):c.4261G>T (p.Asp1421Tyr) rs1567275051
NM_001271.4(CHD2):c.3640G>A (p.Gly1214Arg) rs1596446980
NM_003042.4(SLC6A1):c.307T>C (p.Ser103Pro) rs1574892346
NM_004408.4(DNM1):c.646G>A (p.Ala216Thr)
NM_005045.4(RELN):c.4882G>C (p.Val1628Leu) rs1436133395
NM_006545.5(NPRL2):c.233G>T (p.Arg78Leu) rs1559857717

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