ClinVar Miner

List of variants reported as likely pathogenic for adolescent-onset epilepsy syndrome by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_153033.5(KCTD7):c.551G>A (p.Arg184His) rs747676224 0.00001
NM_001134407.3(GRIN2A):c.2007+1del rs1596471698
NM_003995.4(NPR2):c.1032T>G (p.Tyr344Ter) rs1588057922
NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln) rs771373457
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu) rs771373457
NM_005045.4(RELN):c.6314del (p.Phe2105fs) rs1830269249
NM_005506.4(SCARB2):c.108dup (p.Ile37fs) rs1733108376

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