ClinVar Miner

List of variants reported as benign for Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 by Invitae

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ClinVar version:
Total variants: 188
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.8843+7G>C rs2711885 0.98938
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.10074A>G (p.Ala3358=) rs1062831 0.17444
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.8136A>G (p.Leu2712=) rs3808039 0.04529
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.8508C>T (p.Phe2836=) rs2229862 0.03751
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.26A>C (p.Gln9Pro) rs115165703 0.02037
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.6672-16C>T rs79610318 0.01836
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.2932A>G (p.Thr978Ala) rs3025962 0.01491
NM_005045.4(RELN):c.9903C>T (p.Tyr3301=) rs73714404 0.01371
NM_005045.4(RELN):c.6671+8T>C rs362758 0.01237
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.9714C>T (p.His3238=) rs78218774 0.01139
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.9524A>C (p.His3175Pro) rs74513461 0.00648
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.6084C>T (p.Gly2028=) rs114019779 0.00507
NM_005045.4(RELN):c.1824C>T (p.Cys608=) rs79620906 0.00502
NM_005045.4(RELN):c.3712A>C (p.Asn1238His) rs114003896 0.00468
NM_005045.4(RELN):c.5775A>G (p.Arg1925=) rs2711866 0.00464
NM_005045.4(RELN):c.4986C>G (p.Thr1662=) rs78221963 0.00412
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860 0.00361
NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys) rs114647348 0.00354
NM_005045.4(RELN):c.565C>T (p.His189Tyr) rs115806540 0.00319
NM_005045.4(RELN):c.7086C>T (p.Thr2362=) rs362747 0.00300
NM_005045.4(RELN):c.6228C>T (p.Ser2076=) rs115379833 0.00291
NM_005045.4(RELN):c.906C>T (p.Ala302=) rs114494558 0.00287
NM_005045.4(RELN):c.416C>G (p.Thr139Ser) rs79471015 0.00283
NM_005045.4(RELN):c.4408G>A (p.Val1470Ile) rs143213152 0.00232
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser) rs150236371 0.00231
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.1442-8T>C rs181761096 0.00212
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_005045.4(RELN):c.2303+16G>T rs188276472 0.00198
NM_005045.4(RELN):c.8120-9T>C rs74952625 0.00190
NM_005045.4(RELN):c.1377G>A (p.Arg459=) rs73712207 0.00185
NM_005045.4(RELN):c.3008+11A>G rs186983114 0.00174
NM_005045.4(RELN):c.246C>G (p.Thr82=) rs113242008 0.00171
NM_005045.4(RELN):c.8275-19T>C rs149567032 0.00156
NM_005045.4(RELN):c.3123C>T (p.Gly1041=) rs41276148 0.00123
NM_005045.4(RELN):c.3424T>A (p.Ser1142Thr) rs145484343 0.00114
NM_005045.4(RELN):c.5880A>G (p.Thr1960=) rs362793 0.00105
NM_005045.4(RELN):c.4748-11T>C rs201494847 0.00098
NM_005045.4(RELN):c.577+7G>T rs188372756 0.00091
NM_005045.4(RELN):c.4182A>G (p.Ser1394=) rs147496823 0.00080
NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn) rs148509350 0.00071
NM_005045.4(RELN):c.5615-12T>C rs375680075 0.00062
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn) rs143948239 0.00057
NM_005045.4(RELN):c.7580C>A (p.Ser2527Tyr) rs114620403 0.00050
NM_005045.4(RELN):c.7114G>A (p.Val2372Met) rs114344654 0.00046
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) rs146877597 0.00043
NM_005045.4(RELN):c.5344C>T (p.Arg1782Cys) rs138576725 0.00041
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553 0.00041
NM_005045.4(RELN):c.6166C>T (p.Pro2056Ser) rs200409290 0.00038
NM_005045.4(RELN):c.1483A>G (p.Ile495Val) rs150850005 0.00034
NM_005045.4(RELN):c.2944A>C (p.Ile982Leu) rs143972828 0.00031
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val) rs147026512 0.00031
NM_005045.4(RELN):c.9340A>G (p.Ile3114Val) rs149613347 0.00031
NM_005045.4(RELN):c.2868C>T (p.His956=) rs362694 0.00026
NM_005045.4(RELN):c.3060C>T (p.Asp1020=) rs115886170 0.00026
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser) rs115577014 0.00026
NM_005045.4(RELN):c.1144-15T>C rs2301560 0.00025
NM_005045.4(RELN):c.2954C>G (p.Ala985Gly) rs138598422 0.00025
NM_005045.4(RELN):c.59C>T (p.Thr20Met) rs145135688 0.00024
NM_005045.4(RELN):c.6278A>C (p.His2093Pro) rs149152189 0.00024
NM_005045.4(RELN):c.6458G>A (p.Gly2153Asp) rs144387303 0.00022
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser) rs201422815 0.00021
NM_005045.4(RELN):c.10016T>C (p.Met3339Thr) rs150638029 0.00019
NM_005045.4(RELN):c.4145+19A>G rs200189547 0.00019
NM_005045.4(RELN):c.5893C>A (p.Pro1965Thr) rs370624724 0.00019
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120 0.00018
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln) rs200010849 0.00017
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262 0.00016
NM_005045.4(RELN):c.4354G>A (p.Asp1452Asn) rs114446781 0.00016
NM_005045.4(RELN):c.5088T>C (p.Leu1696=) rs114551393 0.00016
NM_005045.4(RELN):c.5589G>T (p.Gln1863His) rs774354428 0.00016
NM_005045.4(RELN):c.8844-20T>C rs142002220 0.00016
NM_005045.4(RELN):c.4893C>G (p.Asp1631Glu) rs201296719 0.00014
NM_005045.4(RELN):c.1708C>G (p.His570Asp) rs374546580 0.00013
NM_005045.4(RELN):c.5398C>G (p.Leu1800Val) rs150148125 0.00013
NM_005045.4(RELN):c.6200C>T (p.Ser2067Phe) rs368566543 0.00012
NM_005045.4(RELN):c.7268G>A (p.Arg2423His) rs140660860 0.00012
NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln) rs116463039 0.00011
NM_005045.4(RELN):c.1655T>C (p.Val552Ala) rs144116037 0.00010
NM_005045.4(RELN):c.6853C>T (p.Arg2285Cys) rs144565023 0.00010
NM_005045.4(RELN):c.7350-15T>C rs532399420 0.00010
NM_005045.4(RELN):c.697G>A (p.Ala233Thr) rs181961566 0.00008
NM_005045.4(RELN):c.9708C>T (p.Ser3236=) rs200370282 0.00008
NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter) rs139326865 0.00006
NM_005045.4(RELN):c.4937-18del rs757860282 0.00006
NM_005045.4(RELN):c.1795C>T (p.Arg599Cys) rs369272208 0.00005
NM_005045.4(RELN):c.1320A>G (p.Thr440=) rs376968265 0.00004
NM_005045.4(RELN):c.1690C>A (p.Leu564Ile) rs748901010 0.00004
NM_005045.4(RELN):c.2779A>G (p.Met927Val) rs546154419 0.00004
NM_005045.4(RELN):c.2252A>C (p.Lys751Thr) rs116504075 0.00003
NM_005045.4(RELN):c.3197C>T (p.Pro1066Leu) rs116225248 0.00003
NM_005045.4(RELN):c.4314A>T (p.Gly1438=) rs368010584 0.00003
NM_005045.4(RELN):c.5157G>A (p.Ser1719=) rs144388452 0.00003
NM_005045.4(RELN):c.855A>G (p.Leu285=) rs749680856 0.00003
NM_005045.4(RELN):c.1278C>T (p.Ser426=) rs755465811 0.00002
NM_005045.4(RELN):c.1880A>G (p.Glu627Gly) rs779007436 0.00002
NM_005045.4(RELN):c.1915C>A (p.Leu639Ile) rs150988816 0.00002
NM_005045.4(RELN):c.4296A>G (p.Gly1432=) rs757003273 0.00002
NM_005045.4(RELN):c.7943T>C (p.Leu2648Pro) rs566580675 0.00002
NM_005045.4(RELN):c.1277G>A (p.Ser426Asn) rs568950079 0.00001
NM_005045.4(RELN):c.4719G>A (p.Thr1573=) rs370566453 0.00001
NM_005045.4(RELN):c.4934T>C (p.Ile1645Thr) rs537366000 0.00001
NM_005045.4(RELN):c.7762A>C (p.Asn2588His) rs569919781 0.00001
NM_005045.4(RELN):c.9447G>A (p.Ser3149=) rs770503009 0.00001
NM_005045.4(RELN):c.-24GGC[10] (p.Met1_Glu2insGlyGly) rs55656324
NM_005045.4(RELN):c.10266T>C (p.His3422=)
NM_005045.4(RELN):c.1143+15dup rs758452731
NM_005045.4(RELN):c.1290-12dup
NM_005045.4(RELN):c.1290-3del rs146986040
NM_005045.4(RELN):c.1290-3dup rs146986040
NM_005045.4(RELN):c.1515G>A (p.Glu505=)
NM_005045.4(RELN):c.1789C>T (p.His597Tyr) rs779014769
NM_005045.4(RELN):c.1791T>G (p.His597Gln)
NM_005045.4(RELN):c.1806C>T (p.Ser602=)
NM_005045.4(RELN):c.2003-12dup rs768288120
NM_005045.4(RELN):c.2124A>C (p.Pro708=)
NM_005045.4(RELN):c.227-17del rs561211301
NM_005045.4(RELN):c.227-26dup rs561211301
NM_005045.4(RELN):c.2370G>A (p.Gln790=)
NM_005045.4(RELN):c.2466-7del rs571882672
NM_005045.4(RELN):c.2466-7dup rs571882672
NM_005045.4(RELN):c.2466-8_2466-7del
NM_005045.4(RELN):c.2643G>A (p.Gln881=)
NM_005045.4(RELN):c.2907A>G (p.Pro969=) rs780891394
NM_005045.4(RELN):c.2989C>T (p.Leu997Phe) rs362691
NM_005045.4(RELN):c.2992C>G (p.Leu998Val) rs201003473
NM_005045.4(RELN):c.3099C>T (p.Cys1033=)
NM_005045.4(RELN):c.3708T>G (p.Pro1236=)
NM_005045.4(RELN):c.3829A>G (p.Met1277Val) rs555946635
NM_005045.4(RELN):c.4005A>G (p.Lys1335=) rs1242460681
NM_005045.4(RELN):c.4368G>A (p.Gly1456=)
NM_005045.4(RELN):c.4589-15T>C
NM_005045.4(RELN):c.4589-8dup rs751121994
NM_005045.4(RELN):c.4833T>C (p.Asp1611=)
NM_005045.4(RELN):c.4854C>T (p.Ala1618=)
NM_005045.4(RELN):c.4937-4del rs35268159
NM_005045.4(RELN):c.4937-4dup rs35268159
NM_005045.4(RELN):c.4937-5_4937-4dup rs35268159
NM_005045.4(RELN):c.5151C>T (p.Tyr1717=)
NM_005045.4(RELN):c.5211-10_5211-7del rs34125550
NM_005045.4(RELN):c.5827G>C (p.Asp1943His)
NM_005045.4(RELN):c.6073-14del
NM_005045.4(RELN):c.6541A>C (p.Arg2181=)
NM_005045.4(RELN):c.7059C>T (p.Ala2353=)
NM_005045.4(RELN):c.7110_7111inv (p.Ala2371Thr)
NM_005045.4(RELN):c.7189T>C (p.Leu2397=)
NM_005045.4(RELN):c.7490+16dup rs761790873
NM_005045.4(RELN):c.7590C>T (p.Asn2530=)
NM_005045.4(RELN):c.7821C>T (p.Asn2607=)
NM_005045.4(RELN):c.805+13dup
NM_005045.4(RELN):c.8061A>G (p.Ala2687=)
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
NM_005045.4(RELN):c.9444-10G>T rs575743816
NM_005045.4(RELN):c.9444-12dup
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) rs73714410

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