ClinVar Miner

List of variants in gene RELN reported as benign for Norman-Roberts syndrome

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.7181-34G>A rs362706 0.75362
NM_005045.4(RELN):c.8046T>C (p.His2682=) rs2229864 0.49951
NM_005045.4(RELN):c.578-3T>C rs607755 0.49658
NM_005045.4(RELN):c.4589-28A>G rs362726 0.46847
NM_005045.4(RELN):c.7887T>C (p.Pro2629=) rs56345626 0.17070
NM_005045.4(RELN):c.2989C>G (p.Leu997Val) rs362691 0.10133
NM_005045.4(RELN):c.1776A>G (p.Glu592=) rs2072403 0.09661
NM_005045.4(RELN):c.6702T>C (p.Cys2234=) rs2075043 0.05938
NM_005045.4(RELN):c.4588+14T>C rs362810 0.04203
NM_005045.4(RELN):c.1596G>A (p.Gln532=) rs41276154 0.04078
NM_005045.4(RELN):c.7530C>T (p.Pro2510=) rs2075038 0.03404
NM_005045.4(RELN):c.5351+3A>G rs6967725 0.03307
NM_005045.4(RELN):c.5831T>G (p.Phe1944Cys) rs77664442 0.02460
NM_005045.4(RELN):c.6672-15G>A rs73418565 0.02349
NM_005045.4(RELN):c.1888A>C (p.Ser630Arg) rs115734214 0.02229
NM_005045.4(RELN):c.7110T>C (p.Val2370=) rs362746 0.01926
NM_005045.4(RELN):c.4589-8T>G rs362801 0.01890
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962 0.01491
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr) rs115640958 0.01215
NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu) rs55689103 0.01176
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe) rs78008536 0.01065
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile) rs79499902 0.01040
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038 0.00747
NM_005045.4(RELN):c.6078C>T (p.Asn2026=) rs79610081 0.00676
NM_005045.4(RELN):c.621C>T (p.Asp207=) rs114627891 0.00558
NM_005045.4(RELN):c.1075G>A (p.Val359Ile) rs114926265 0.00535
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736 0.00515
NM_005045.4(RELN):c.4937-15A>T rs2711839 0.00514
NM_005045.4(RELN):c.1824C>T (p.Cys608=) rs79620906 0.00502
NM_005045.4(RELN):c.5775A>G (p.Arg1925=) rs2711866 0.00464
NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys) rs114647348 0.00354
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) rs56342240 0.00287
NM_005045.4(RELN):c.416C>G (p.Thr139Ser) rs79471015 0.00283
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479 0.00140
NM_005045.4(RELN):c.4748-11T>C rs201494847 0.00098
NM_005045.4(RELN):c.7111G>A (p.Ala2371Thr) rs79377093 0.00084
NM_005045.4(RELN):c.1144-15T>C rs2301560 0.00025
NM_005045.4(RELN):c.-24GGC[10] (p.Met1_Glu2insGlyGly) rs55656324
NM_005045.4(RELN):c.4937-4del rs35268159
NM_005045.4(RELN):c.6303-42_6303-40del rs74440147

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