ClinVar Miner

List of variants in gene RELN reported as pathogenic for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262
NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys) rs768119894
NM_005045.4(RELN):c.2288A>G (p.Asp763Gly) rs794727998
NM_005045.4(RELN):c.2392C>A (p.His798Asn) rs794727996
NM_005045.4(RELN):c.2531C>T (p.Pro844Leu) rs797045000
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile) rs79499902
NM_005045.4(RELN):c.5791A>G (p.Asn1931Asp) rs369993428

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