ClinVar Miner

List of variants in gene combination RELN, SLC26A5 reported as benign for Norman-Roberts syndrome; Familial temporal lobe epilepsy 7

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.8843+7G>C rs2711885 0.98938
NM_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831 0.17444
NM_005045.4(RELN):c.8136A>G (p.Leu2712=) rs3808039 0.04529
NM_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862 0.03751
NM_005045.4(RELN):c.10182-11G>A rs57844600 0.01613
NM_005045.4(RELN):c.8950+16G>A rs76565991 0.01546
NM_005045.4(RELN):c.9903C>T (p.Tyr3301=) rs73714404 0.01371
NM_005045.4(RELN):c.8811G>A (p.Ala2937=) rs144728023 0.00226
NM_005045.4(RELN):c.9321C>T (p.Leu3107=) rs150387973 0.00218
NM_005045.4(RELN):c.8120-9T>C rs74952625 0.00190
NM_005045.4(RELN):c.8275-19T>C rs149567032 0.00156
NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn) rs148509350 0.00071
NM_005045.4(RELN):c.9340A>G (p.Ile3114Val) rs149613347 0.00031
NM_005045.4(RELN):c.10016T>C (p.Met3339Thr) rs150638029 0.00019
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120 0.00018
NM_005045.4(RELN):c.8844-20T>C rs142002220 0.00016
NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln) rs116463039 0.00011
NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter) rs139326865 0.00006
NM_005045.4(RELN):c.10266T>C (p.His3422=)
NM_005045.4(RELN):c.8120-9dup
NM_005045.4(RELN):c.8205T>C (p.His2735=)
NM_005045.4(RELN):c.8799T>C (p.Thr2933=)
NM_005045.4(RELN):c.8922C>T (p.Gly2974=) rs544687307
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del) rs762015967
NM_005045.4(RELN):c.9370-13_9370-8del rs141397961

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