ClinVar Miner

List of variants studied for childhood-onset epilepsy syndrome by Neurogenetics Laboratory - MEYER, AOU Meyer

Included ClinVar conditions (90):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser) rs748400155 0.00001
NM_000834.5(GRIN2B):c.4315C>G (p.Pro1439Ala) rs758042475
NM_001134407.3(GRIN2A):c.2147C>A (p.Ala716Asp) rs1057519552
NM_032108.4(SEMA6B):c.2138C>T (p.Thr713Met) rs2145342338

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