ClinVar Miner

List of variants studied for Familial temporal lobe epilepsy 7 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120 0.00018
NM_005045.4(RELN):c.1653T>A (p.Asn551Lys) rs1417611613 0.00001
NM_005045.4(RELN):c.9281A>G (p.Tyr3094Cys) rs750252271 0.00001
NM_005045.4(RELN):c.1172T>C (p.Ile391Thr)
NM_005045.4(RELN):c.9453del (p.Trp3152fs)

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