ClinVar Miner

List of variants reported as uncertain significance for Norman-Roberts syndrome

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ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736 0.00515
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860 0.00361
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.5618C>T (p.Thr1873Ile) rs41275239 0.00212
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.6141C>T (p.Phe2047=) rs79161241 0.00098
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726 0.00091
NM_005045.4(RELN):c.577+7G>T rs188372756 0.00091
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.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.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.8863C>T (p.Arg2955Cys) rs114501042 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.2376T>C (p.Gly792=) rs398124191 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.7634C>T (p.Ala2545Val) rs116634494 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.*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.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.3191C>G (p.Ala1064Gly) rs565236668 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.6875G>A (p.Arg2292His) rs565382144 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.7147G>A (p.Ala2383Thr) rs978248682 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.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.5005A>C (p.Ser1669Arg) rs1481028795 0.00002
NM_005045.4(RELN):c.6147G>A (p.Ala2049=) rs116750302 0.00002
NM_005045.4(RELN):c.7282C>T (p.Arg2428Trp) rs751431158 0.00002
NM_005045.4(RELN):c.7943T>C (p.Leu2648Pro) rs566580675 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.10131C>G (p.His3377Gln) rs767876947 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.2465+5G>T rs772717691 0.00001
NM_005045.4(RELN):c.340A>G (p.Ile114Val) rs886061863 0.00001
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly) rs587780439 0.00001
NM_005045.4(RELN):c.4918A>G (p.Ile1640Val) rs756988903 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.673T>G (p.Cys225Gly) rs371731772 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.7451T>C (p.Met2484Thr) rs1402071263 0.00001
NM_005045.4(RELN):c.74C>T (p.Ala25Val) rs757957218 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.8490-3T>C rs373564931 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.1132G>A (p.Ala378Thr) rs1834010274
NM_005045.4(RELN):c.1171A>G (p.Ile391Val) rs886061860
NM_005045.4(RELN):c.1505G>C (p.Gly502Ala) rs1382483563
NM_005045.4(RELN):c.1790A>G (p.His597Arg) rs886061859
NM_005045.4(RELN):c.1901G>A (p.Arg634Gln) rs779205093
NM_005045.4(RELN):c.2066G>A (p.Cys689Tyr) rs2117362100
NM_005045.4(RELN):c.217G>C (p.Glu73Gln)
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.2728T>C (p.Ser910Pro) rs1831965631
NM_005045.4(RELN):c.2895A>T (p.Glu965Asp)
NM_005045.4(RELN):c.2992C>G (p.Leu998Val) rs201003473
NM_005045.4(RELN):c.337+11C>A rs771085561
NM_005045.4(RELN):c.3485dup (p.Ile1163fs) rs1831540545
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.416C>T (p.Thr139Ile)
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.4855A>G (p.Asn1619Asp) rs1830750187
NM_005045.4(RELN):c.5069A>G (p.Asn1690Ser)
NM_005045.4(RELN):c.5306C>G (p.Pro1769Arg) rs1830649453
NM_005045.4(RELN):c.541G>C (p.Gly181Arg) rs1342417375
NM_005045.4(RELN):c.545-15C>A rs886061862
NM_005045.4(RELN):c.5615-102A>G
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.65G>A (p.Arg22Lys) rs139532757
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.7299C>A (p.Asp2433Glu)
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.8119+3A>G
NM_005045.4(RELN):c.8654C>T (p.Thr2885Ile)
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.887A>T (p.Gln296Leu)
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.925ATC[1] (p.Ile310del) rs1554404031
NM_005045.4(RELN):c.9681T>C (p.Ile3227=) rs1236487874

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