ClinVar Miner

List of variants studied for Norman-Roberts syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 217
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.*397G>A rs7811262 0.99261
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.*151T>C rs7811571 0.04492
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.*67G>A rs112874175 0.02333
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.10182-11G>A rs57844600 0.01613
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.*563C>A rs150458916 0.00535
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.*576G>A rs141550459 0.00484
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.5108C>G (p.Pro1703Arg) rs2229860 0.00361
NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys) rs114647348 0.00354
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.3651C>G (p.Ile1217Met) rs56342240 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.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.3477C>A (p.Asn1159Lys) rs114684479 0.00140
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.474-7T>C rs55693709 0.00105
NM_005045.4(RELN):c.4748-11T>C rs201494847 0.00098
NM_005045.4(RELN):c.6141C>T (p.Phe2047=) rs79161241 0.00098
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726 0.00091
NM_005045.4(RELN):c.7111G>A (p.Ala2371Thr) rs79377093 0.00084
NM_005045.4(RELN):c.*82T>C rs781050842 0.00081
NM_005045.4(RELN):c.4182A>G (p.Ser1394=) rs147496823 0.00080
NM_005045.4(RELN):c.3913-9T>C rs372473867 0.00076
NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn) rs148509350 0.00071
NM_005045.4(RELN):c.7580C>A (p.Ser2527Tyr) rs114620403 0.00050
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092 0.00047
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.-29C>T rs779534888 0.00039
NM_005045.4(RELN):c.7180+12G>A rs142041722 0.00039
NM_005045.4(RELN):c.5136G>A (p.Thr1712=) rs147933593 0.00038
NM_005045.4(RELN):c.2754A>G (p.Gln918=) rs114620008 0.00034
NM_005045.4(RELN):c.877G>A (p.Asp293Asn) rs200289289 0.00033
NM_005045.4(RELN):c.9825C>T (p.Ser3275=) rs149713137 0.00033
NM_005045.4(RELN):c.*68C>T rs978914860 0.00031
NM_005045.4(RELN):c.4275A>G (p.Gly1425=) rs141617635 0.00031
NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln) rs199553777 0.00031
NM_005045.4(RELN):c.9340A>G (p.Ile3114Val) rs149613347 0.00031
NM_005045.4(RELN):c.5643G>A (p.Leu1881=) rs141387255 0.00029
NM_005045.4(RELN):c.5796C>T (p.Asn1932=) rs200299096 0.00029
NM_005045.4(RELN):c.8843+3A>C rs200124755 0.00029
NM_005045.4(RELN):c.3060C>T (p.Asp1020=) rs115886170 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.5711C>T (p.Thr1904Met) rs114190729 0.00025
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile) rs144978163 0.00021
NM_005045.4(RELN):c.8798C>T (p.Thr2933Ile) rs201656873 0.00019
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120 0.00018
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys) rs114501042 0.00018
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln) rs200010849 0.00017
NM_005045.4(RELN):c.2376T>C (p.Gly792=) rs398124191 0.00016
NM_005045.4(RELN):c.5088T>C (p.Leu1696=) rs114551393 0.00016
NM_005045.4(RELN):c.3009-10G>A rs140358876 0.00014
NM_005045.4(RELN):c.3411C>T (p.Gly1137=) rs137974322 0.00014
NM_005045.4(RELN):c.8795C>A (p.Ser2932Tyr) rs139225791 0.00014
NM_005045.4(RELN):c.113T>A (p.Phe38Tyr) rs149715692 0.00012
NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln) rs116463039 0.00011
NM_005045.4(RELN):c.1336G>C (p.Glu446Gln) rs56146903 0.00011
NM_005045.4(RELN):c.6193G>A (p.Val2065Ile) rs201627577 0.00011
NM_005045.4(RELN):c.*136G>A rs886061853 0.00010
NM_005045.4(RELN):c.1344C>G (p.Gly448=) rs144150588 0.00010
NM_005045.4(RELN):c.6553A>T (p.Met2185Leu) rs114686696 0.00010
NM_005045.4(RELN):c.*487C>T rs987784206 0.00009
NM_005045.4(RELN):c.*81A>G rs560856156 0.00009
NM_005045.4(RELN):c.4495G>C (p.Asp1499His) rs200428576 0.00009
NM_005045.4(RELN):c.4720G>A (p.Ala1574Thr) rs78480723 0.00009
NM_005045.4(RELN):c.576A>G (p.Leu192=) rs142874980 0.00009
NM_005045.4(RELN):c.6072+7G>T rs777197865 0.00009
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile) rs375985673 0.00009
NM_005045.4(RELN):c.9708C>T (p.Ser3236=) rs200370282 0.00008
NM_005045.4(RELN):c.1566G>C (p.Leu522Phe) rs200373269 0.00006
NM_005045.4(RELN):c.3642C>T (p.Val1214=) rs151252449 0.00006
NM_005045.4(RELN):c.3712-5A>G rs370671369 0.00006
NM_005045.4(RELN):c.5025C>T (p.Pro1675=) rs748927848 0.00006
NM_005045.4(RELN):c.5480A>G (p.Asn1827Ser) rs374941914 0.00006
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr) rs757915171 0.00005
NM_005045.4(RELN):c.338-9T>C rs759501468 0.00005
NM_005045.4(RELN):c.*37G>A rs374606622 0.00004
NM_005045.4(RELN):c.10026G>A (p.Thr3342=) rs542352292 0.00004
NM_005045.4(RELN):c.1197C>T (p.Ser399=) rs199686580 0.00004
NM_005045.4(RELN):c.5359C>T (p.Arg1787Trp) rs115549751 0.00004
NM_005045.4(RELN):c.5599A>C (p.Arg1867=) rs753376558 0.00004
NM_005045.4(RELN):c.6102A>T (p.Ser2034=) rs368034037 0.00004
NM_005045.4(RELN):c.7590C>A (p.Asn2530Lys) rs766869538 0.00004
NM_005045.4(RELN):c.7757C>T (p.Thr2586Ile) rs202172902 0.00004
NM_005045.4(RELN):c.*263T>C rs879136898 0.00003
NM_005045.4(RELN):c.23G>A (p.Arg8Gln) rs765261158 0.00003
NM_005045.4(RELN):c.2476G>A (p.Val826Ile) rs369844245 0.00003
NM_005045.4(RELN):c.3197C>T (p.Pro1066Leu) rs116225248 0.00003
NM_005045.4(RELN):c.4434C>G (p.Asn1478Lys) rs375118721 0.00003
NM_005045.4(RELN):c.6789G>A (p.Glu2263=) rs748936767 0.00003
NM_005045.4(RELN):c.8839G>A (p.Ala2947Thr) rs141307064 0.00003
NM_005045.4(RELN):c.10287-7T>G rs886061854 0.00002
NM_005045.4(RELN):c.1555G>T (p.Val519Phe) rs560704715 0.00002
NM_005045.4(RELN):c.1936C>T (p.Arg646Trp) rs115831287 0.00002
NM_005045.4(RELN):c.1948A>T (p.Ile650Phe) rs371652596 0.00002
NM_005045.4(RELN):c.2189G>A (p.Arg730His) rs370858334 0.00002
NM_005045.4(RELN):c.2440T>C (p.Ser814Pro) rs764681189 0.00002
NM_005045.4(RELN):c.2673G>A (p.Gln891=) rs201156261 0.00002
NM_005045.4(RELN):c.2688C>T (p.His896=) rs368049278 0.00002
NM_005045.4(RELN):c.3540-14T>A rs754915287 0.00002
NM_005045.4(RELN):c.3952C>G (p.Pro1318Ala) rs140090640 0.00002
NM_005045.4(RELN):c.4296A>G (p.Gly1432=) rs757003273 0.00002
NM_005045.4(RELN):c.4480C>T (p.Arg1494Trp) rs140263617 0.00002
NM_005045.4(RELN):c.6147G>A (p.Ala2049=) rs116750302 0.00002
NM_005045.4(RELN):c.8029G>A (p.Ala2677Thr) rs747571208 0.00002
NM_005045.4(RELN):c.9826G>A (p.Ala3276Thr) rs781713047 0.00002
NM_005045.4(RELN):c.*109G>A rs1162034311 0.00001
NM_005045.4(RELN):c.-117G>T rs1185334042 0.00001
NM_005045.4(RELN):c.1696T>A (p.Ser566Thr) rs200058688 0.00001
NM_005045.4(RELN):c.1893-3C>T rs1214133012 0.00001
NM_005045.4(RELN):c.340A>G (p.Ile114Val) rs886061863 0.00001
NM_005045.4(RELN):c.5166C>G (p.Phe1722Leu) rs886061856 0.00001
NM_005045.4(RELN):c.5179C>T (p.Arg1727Trp) rs757649565 0.00001
NM_005045.4(RELN):c.5547T>C (p.Leu1849=) rs766701326 0.00001
NM_005045.4(RELN):c.5973A>G (p.Glu1991=) rs888620136 0.00001
NM_005045.4(RELN):c.6157C>T (p.Leu2053Phe) rs779142703 0.00001
NM_005045.4(RELN):c.6830C>T (p.Ala2277Val) rs374796794 0.00001
NM_005045.4(RELN):c.7093G>A (p.Val2365Met) rs756299161 0.00001
NM_005045.4(RELN):c.717C>T (p.Ala239=) rs368472328 0.00001
NM_005045.4(RELN):c.7398G>A (p.Lys2466=) rs376360223 0.00001
NM_005045.4(RELN):c.7668+13C>T rs751859147 0.00001
NM_005045.4(RELN):c.7668+3G>T rs748053614 0.00001
NM_005045.4(RELN):c.7762A>C (p.Asn2588His) rs569919781 0.00001
NM_005045.4(RELN):c.7974C>T (p.Val2658=) rs1279589989 0.00001
NM_005045.4(RELN):c.8158G>A (p.Glu2720Lys) rs1554367200 0.00001
NM_005045.4(RELN):c.9664A>G (p.Ile3222Val) rs142638365 0.00001
NM_005045.4(RELN):c.9790G>A (p.Asp3264Asn) rs770064368 0.00001
NM_005045.4(RELN):c.*135C>T rs1015535811
NM_005045.4(RELN):c.*374G>C rs577560786
NM_005045.4(RELN):c.*526A>G rs775372107
NM_005045.4(RELN):c.*857T>C rs1827874321
NM_005045.4(RELN):c.*94T>C rs1385040041
NM_005045.4(RELN):c.-35G>C rs746380201
NM_005045.4(RELN):c.1011A>T (p.Glu337Asp) rs886061861
NM_005045.4(RELN):c.10173T>C (p.Asn3391=) rs1261008609
NM_005045.4(RELN):c.1045T>C (p.Leu349=) rs777083831
NM_005045.4(RELN):c.1171A>G (p.Ile391Val) rs886061860
NM_005045.4(RELN):c.1790A>G (p.His597Arg) rs886061859
NM_005045.4(RELN):c.223C>T (p.His75Tyr) rs555377051
NM_005045.4(RELN):c.2261G>A (p.Arg754Gln) rs1294568040
NM_005045.4(RELN):c.2304-13A>T rs774202843
NM_005045.4(RELN):c.2549G>C (p.Arg850Thr) rs1832418506
NM_005045.4(RELN):c.2992C>G (p.Leu998Val) rs201003473
NM_005045.4(RELN):c.337+11C>A rs771085561
NM_005045.4(RELN):c.3670C>G (p.Gln1224Glu) rs549360134
NM_005045.4(RELN):c.3798T>C (p.Asn1266=) rs1831475858
NM_005045.4(RELN):c.4031G>A (p.Gly1344Asp) rs1831365750
NM_005045.4(RELN):c.4220A>G (p.Tyr1407Cys) rs1830980709
NM_005045.4(RELN):c.4308A>G (p.Ala1436=) rs886061858
NM_005045.4(RELN):c.4466G>A (p.Gly1489Glu) rs886061857
NM_005045.4(RELN):c.4731G>T (p.Trp1577Cys) rs1830758203
NM_005045.4(RELN):c.5306C>G (p.Pro1769Arg) rs1830649453
NM_005045.4(RELN):c.545-15C>A rs886061862
NM_005045.4(RELN):c.5797+11A>G rs765957925
NM_005045.4(RELN):c.6082G>A (p.Gly2028Ser) rs886061855
NM_005045.4(RELN):c.6201T>C (p.Ser2067=) rs1830401696
NM_005045.4(RELN):c.6787G>C (p.Glu2263Gln) rs1830150596
NM_005045.4(RELN):c.6899G>A (p.Gly2300Glu) rs1830147556
NM_005045.4(RELN):c.7188A>G (p.Glu2396=) rs776781331
NM_005045.4(RELN):c.7547C>A (p.Thr2516Asn) rs1829722766
NM_005045.4(RELN):c.792C>A (p.Leu264=) rs1172120788
NM_005045.4(RELN):c.8673C>T (p.Phe2891=) rs200157006
NM_005045.4(RELN):c.8792G>A (p.Gly2931Glu) rs1465519249
NM_005045.4(RELN):c.8888C>A (p.Thr2963Asn) rs200781285
NM_005045.4(RELN):c.9095T>C (p.Val3032Ala) rs1828849563
NM_005045.4(RELN):c.9129G>C (p.Leu3043=) rs1828848339
NM_005045.4(RELN):c.9681T>C (p.Ile3227=) rs1236487874
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) rs73714410

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.