ClinVar Miner

List of variants studied for Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.10292G>A (p.Arg3431His) rs1442266027 0.00001
NM_005045.4(RELN):c.1532C>T (p.Thr511Ile) rs372928932 0.00001
NM_005045.4(RELN):c.5300G>A (p.Gly1767Glu) rs766384576 0.00001
NM_005045.4(RELN):c.381T>C (p.Ser127=)
NM_005045.4(RELN):c.5211-7T>G rs760447914
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del) rs762015967

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