ClinVar Miner

List of variants in gene combination LOC126860131, RELN reported as uncertain significance for Norman-Roberts syndrome; Familial temporal lobe epilepsy 7

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.1405A>G (p.Thr469Ala) rs182533022 0.00002
NM_005045.4(RELN):c.1290A>G (p.Gly430=) rs750986647 0.00001
NM_005045.4(RELN):c.1302G>C (p.Leu434Phe) rs1338264030 0.00001
NM_005045.4(RELN):c.1435G>T (p.Val479Leu) rs1220962945 0.00001
NM_005045.4(RELN):c.1296T>A (p.Asp432Glu)
NM_005045.4(RELN):c.1313T>C (p.Ile438Thr) rs1463687606
NM_005045.4(RELN):c.1338A>T (p.Glu446Asp) rs766146040
NM_005045.4(RELN):c.1344C>T (p.Gly448=) rs144150588
NM_005045.4(RELN):c.1351A>G (p.Met451Val)
NM_005045.4(RELN):c.1352T>C (p.Met451Thr) rs1833139566
NM_005045.4(RELN):c.1361T>C (p.Leu454Pro) rs1833139042
NM_005045.4(RELN):c.1372G>C (p.Glu458Gln)
NM_005045.4(RELN):c.1394C>T (p.Ser465Phe) rs111409626
NM_005045.4(RELN):c.1402A>T (p.Thr468Ser) rs1833136675
NM_005045.4(RELN):c.1415G>A (p.Gly472Glu) rs2117412664
NM_005045.4(RELN):c.1441+5G>A rs1402939542

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