ClinVar Miner

List of variants in gene SHANK3

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Gene type:
ClinVar version:
Total variants: 776
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.1802+18T>C rs1557620 0.80113
NM_001372044.2(SHANK3):c.1530-440T>C rs9616818 0.77757
NM_001372044.2(SHANK3):c.1529+106C>A rs2341009 0.76426
NM_001372044.2(SHANK3):c.2324+101T>C rs5770819 0.53140
NM_001372044.2(SHANK3):c.2220-195G>A rs4824145 0.52516
NM_001372044.2(SHANK3):c.2541-113T>G rs8136930 0.52364
NM_001372044.2(SHANK3):c.959T>C (p.Ile320Thr) rs9616915 0.46763
NM_001372044.2(SHANK3):c.4794+154C>T rs5770994 0.43670
NM_001372044.2(SHANK3):c.1529+44G>A rs13055562 0.41399
NM_001372044.2(SHANK3):c.675+16G>A rs9616914 0.36263
NM_001372044.2(SHANK3):c.1688+265C>T rs9616940 0.31232
NM_001372044.2(SHANK3):c.1530-534G>C rs9616939 0.30460
NM_001372044.2(SHANK3):c.2300+151T>C rs9968024 0.29015
NM_001372044.2(SHANK3):c.2456-257G>T rs28689705 0.15858
NM_001372044.2(SHANK3):c.1113-247C>T rs7284093 0.10768
NM_001372044.2(SHANK3):c.1689-24G>A rs9616942 0.09689
NM_001372044.2(SHANK3):c.2540+277T>C rs113872596 0.05245
NM_001372044.2(SHANK3):c.4794+228C>T rs56207913 0.05202
NM_001372044.2(SHANK3):c.2455+120C>T rs77869422 0.04277
NM_001372044.2(SHANK3):c.2301-51C>T rs116503692 0.03548
NM_001372044.2(SHANK3):c.1530-601C>T rs73174411 0.03335
NM_001372044.2(SHANK3):c.995+46T>G rs916588 0.03034
NM_001372044.2(SHANK3):c.2456-62G>A rs7289806 0.02620
NM_001372044.2(SHANK3):c.2386G>A (p.Ala796Thr) rs61729471 0.02583
NM_001372044.2(SHANK3):c.1606C>G (p.Arg536Gly) rs1043729674 0.02423
NM_001372044.2(SHANK3):c.1190+230C>G rs13054275 0.02298
NM_001372044.2(SHANK3):c.2541-95G>A rs186169549 0.02035
NM_001372044.2(SHANK3):c.2455+181C>T rs115459966 0.01986
NM_001372044.2(SHANK3):c.1112+9G>A rs77946357 0.01890
NM_001372044.2(SHANK3):c.1113-228G>A rs73429494 0.01867
NM_001372044.2(SHANK3):c.1191-67C>T rs116756427 0.01813
NM_001372044.2(SHANK3):c.3222C>T (p.Tyr1074=) rs144470529 0.01743
NM_001372044.2(SHANK3):c.494+283_494+284insAGTGTGTGCAGT rs374969130 0.01575
NM_001372044.2(SHANK3):c.1191-24G>A rs114849024 0.01359
NM_001372044.2(SHANK3):c.1529+78C>T rs116628032 0.01357
NM_001372044.2(SHANK3):c.1258-39C>A rs115640144 0.01344
NM_001372044.2(SHANK3):c.2325-132C>G rs116289450 0.01325
NM_001372044.2(SHANK3):c.1257+208A>G rs117641416 0.01205
NM_001372044.2(SHANK3):c.567-252A>G rs11912028 0.01072
NM_001372044.2(SHANK3):c.1113-8C>T rs9628236 0.00917
NM_001372044.2(SHANK3):c.3762G>A (p.Lys1254=) rs145196448 0.00666
NM_001372044.2(SHANK3):c.2541-267C>T rs114739072 0.00609
NM_001372044.2(SHANK3):c.2535G>A (p.Pro845=) rs117066889 0.00587
NM_001372044.2(SHANK3):c.5172C>T (p.Pro1724=) rs557669600 0.00492
NM_001372044.2(SHANK3):c.1113-95C>T rs114211068 0.00471
NM_001372044.2(SHANK3):c.2455+34G>A rs148315568 0.00456
NM_001372044.2(SHANK3):c.1470C>T (p.Ala490=) rs116756129 0.00455
NM_001372044.2(SHANK3):c.2219+106C>T rs147738095 0.00454
NM_001372044.2(SHANK3):c.1299G>A (p.Leu433=) rs193191459 0.00450
NM_001372044.2(SHANK3):c.1191-5C>T rs146144920 0.00434
NM_001372044.2(SHANK3):c.2541-192G>A rs181480195 0.00429
NM_001372044.2(SHANK3):c.4794+275G>A rs151251238 0.00424
NM_001372044.2(SHANK3):c.3372C>T (p.Pro1124=) rs200572899 0.00421
NM_001372044.2(SHANK3):c.996-27C>G rs181741673 0.00409
NM_001372044.2(SHANK3):c.885C>G (p.Leu295=) rs187348640 0.00405
NM_001372044.2(SHANK3):c.3588C>T (p.Ser1196=) rs200077311 0.00387
NM_001372044.2:c.1116C>T (p.Ser372=) rs201282170 0.00386
NM_001372044.2(SHANK3):c.1688+276G>A rs141240642 0.00350
NM_001372044.2(SHANK3):c.5185C>A (p.Pro1729Thr) rs749130556 0.00319
NM_001372044.2(SHANK3):c.2455+268C>T rs73431492 0.00302
NM_001372044.2(SHANK3):c.2456-269C>T rs73431494 0.00296
NM_001372044.2(SHANK3):c.2324+9T>C rs143935032 0.00282
NM_001372044.2(SHANK3):c.4794+12G>A rs182725302 0.00254
NM_001372044.2(SHANK3):c.1191-66G>A rs555709852 0.00235
NM_001372044.2(SHANK3):c.291-18G>A rs779140644 0.00228
NM_001372044.2(SHANK3):c.1529+34T>G rs1490345495 0.00224
NM_001372044.2(SHANK3):c.4104C>T (p.Ser1368=) rs201793890 0.00221
NM_001372044.2(SHANK3):c.3238C>G (p.Pro1080Ala) rs563455211 0.00198
NM_001372044.2(SHANK3):c.1257+13C>T rs187458677 0.00185
NM_001372044.2(SHANK3):c.1257+22G>A rs139076185 0.00178
NM_001372044.2(SHANK3):c.291-19C>G rs757516415 0.00166
NM_001372044.2(SHANK3):c.1190+7C>T rs186106384 0.00149
NM_001372044.2(SHANK3):c.474G>T (p.Thr158=) rs530240325 0.00137
NM_001372044.2(SHANK3):c.2436C>T (p.Ala812=) rs61729465 0.00131
NM_001372044.2(SHANK3):c.2455+26G>A rs143299890 0.00125
NM_001372044.2(SHANK3):c.1113-38C>T rs143896169 0.00121
NM_001372044.2(SHANK3):c.3114G>C (p.Ala1038=) rs772152761 0.00113
NM_001372044.2(SHANK3):c.1635C>T (p.Ala545=) rs780922475 0.00111
NM_001372044.2(SHANK3):c.3559C>T (p.Leu1187=) rs376858991 0.00107
NM_001372044.2(SHANK3):c.1689-22C>T rs200726327 0.00102
NM_001372044.2(SHANK3):c.5177C>T (p.Pro1726Leu) rs932743656 0.00099
NM_001372044.2(SHANK3):c.827+21G>A rs200342131 0.00098
NM_001372044.2(SHANK3):c.4410C>T (p.Thr1470=) rs376136109 0.00094
NM_001372044.2(SHANK3):c.2220-36T>C rs201640074 0.00092
NM_001372044.2(SHANK3):c.2325-149G>A rs753056563 0.00089
NM_001372044.2(SHANK3):c.996-7C>G rs371172305 0.00088
NM_001372044.2(SHANK3):c.2300+10G>A rs202200715 0.00087
NM_001372044.2(SHANK3):c.567-11C>T rs137910727 0.00083
NM_001372044.2(SHANK3):c.4118G>A (p.Arg1373Lys) rs201483867 0.00081
NM_001372044.2(SHANK3):c.827+12C>T rs142570054 0.00078
NM_001372044.2(SHANK3):c.4223T>G (p.Val1408Gly) rs200087210 0.00064
NM_001372044.2(SHANK3):c.4101C>T (p.Ser1367=) rs369992254 0.00062
NM_001372044.2(SHANK3):c.3257G>T (p.Gly1086Val) rs767058690 0.00061
NM_001372044.2(SHANK3):c.4569C>T (p.His1523=) rs368142005 0.00059
NM_001372044.2(SHANK3):c.676-22C>T rs201511318 0.00055
NM_001372044.2(SHANK3):c.1587G>A (p.Ala529=) rs758337485 0.00054
NM_001372044.2(SHANK3):c.3742G>A (p.Ala1248Thr) rs139686326 0.00053
NM_001372044.2(SHANK3):c.4671G>A (p.Gly1557=) rs191010623 0.00053
NM_001372044.2(SHANK3):c.696C>T (p.Ala232=) rs201013911 0.00053
NM_001372044.2(SHANK3):c.3180C>T (p.Pro1060=) rs1033616971 0.00050
NM_001372044.2(SHANK3):c.4038C>T (p.Gly1346=) rs367676023 0.00050
NM_001372044.2(SHANK3):c.4259C>T (p.Pro1420Leu) rs73174429 0.00046
NM_001372044.2(SHANK3):c.1530-282G>T rs764284877 0.00045
NM_001372044.2(SHANK3):c.2456-49G>A rs191123221 0.00045
NM_001372044.2(SHANK3):c.708C>T (p.Asn236=) rs79762996 0.00045
NM_033517.1:c.-4G>T rs1171230055 0.00039
NM_001372044.2(SHANK3):c.4794+11C>T rs201673541 0.00034
NM_001372044.2(SHANK3):c.2799C>T (p.Gly933=) rs907713706 0.00033
NM_001372044.2(SHANK3):c.3705T>C (p.Ala1235=) rs576803553 0.00033
NM_001372044.2(SHANK3):c.290+22C>T rs938259102 0.00032
NM_001372044.2(SHANK3):c.2325-66G>C rs754900884 0.00030
NM_001372044.2(SHANK3):c.2820G>A (p.Ala940=) rs758217731 0.00029
NM_001372044.2(SHANK3):c.3876C>T (p.Asn1292=) rs371876840 0.00028
NM_001372044.2(SHANK3):c.1530-287G>T rs760914514 0.00024
NM_001372044.2(SHANK3):c.2400G>A (p.Thr800=) rs370837596 0.00024
NM_001372044.2(SHANK3):c.1248G>A (p.Ser416=) rs372822152 0.00022
NM_001372044.2(SHANK3):c.4170C>T (p.Asn1390=) rs558643743 0.00022
NM_001372044.2(SHANK3):c.2250C>T (p.Arg750=) rs188450024 0.00021
NM_001372044.2(SHANK3):c.837C>A (p.Asp279Glu) rs375458711 0.00021
NM_001372044.2(SHANK3):c.5043C>G (p.Pro1681=) rs958460783 0.00020
NM_001372044.2(SHANK3):c.4794+48G>A rs142301047 0.00019
NM_001372044.2(SHANK3):c.690C>T (p.Leu230=) rs371154104 0.00018
NM_001372044.2(SHANK3):c.3917G>A (p.Arg1306His) rs750186589 0.00017
NM_001372044.2(SHANK3):c.4013C>T (p.Pro1338Leu) rs757572910 0.00017
NM_001372044.2(SHANK3):c.566+13G>T rs373994144 0.00014
NM_001372044.2(SHANK3):c.1398C>G (p.Pro466=) rs371565755 0.00013
NM_001372044.2(SHANK3):c.3885G>A (p.Glu1295=) rs546313986 0.00013
NM_001372044.2(SHANK3):c.966C>T (p.Asp322=) rs778488904 0.00012
NM_001372044.2(SHANK3):c.2324+23C>T rs373375556 0.00011
NM_001372044.2(SHANK3):c.3959C>T (p.Ala1320Val) rs552332994 0.00011
NM_001372044.2(SHANK3):c.675+15C>T rs199893190 0.00011
NM_001372044.2(SHANK3):c.1201G>A (p.Ala401Thr) rs371238756 0.00010
NM_001372044.2(SHANK3):c.3612A>G (p.Thr1204=) rs746873311 0.00010
NM_001372044.2(SHANK3):c.3938C>T (p.Ala1313Val) rs188531567 0.00010
NM_001372044.2(SHANK3):c.4441C>G (p.Leu1481Val) rs201973139 0.00010
NM_001372044.2(SHANK3):c.2422G>A (p.Ala808Thr) rs376095125 0.00009
NM_001372044.2(SHANK3):c.399G>A (p.Pro133=) rs768113393 0.00009
NM_001372044.2(SHANK3):c.4818C>T (p.Ile1606=) rs748062220 0.00008
NM_001372044.2(SHANK3):c.*9C>T rs1296708374 0.00007
NM_001372044.2(SHANK3):c.1113-7G>A rs368558971 0.00007
NM_001372044.2(SHANK3):c.1688+14G>C rs774946128 0.00007
NM_001372044.2(SHANK3):c.5094G>T (p.Val1698=) rs972006253 0.00007
NM_001372044.2(SHANK3):c.827+30G>A rs765779866 0.00007
NM_001372044.2(SHANK3):c.2148C>T (p.Val716=) rs754669007 0.00006
NM_001372044.2(SHANK3):c.2455+16G>A rs371419153 0.00006
NM_001372044.2(SHANK3):c.2943T>A (p.Pro981=) rs1000823234 0.00006
NM_001372044.2(SHANK3):c.4599C>T (p.Ala1533=) rs371743889 0.00006
NM_001372044.2(SHANK3):c.5412C>T (p.Asp1804=) rs1012662762 0.00006
NM_001372044.2(SHANK3):c.2184T>C (p.Gly728=) rs747708688 0.00005
NM_001372044.2(SHANK3):c.4392C>T (p.Ser1464=) rs767710495 0.00005
NM_001372044.2(SHANK3):c.651C>T (p.Asn217=) rs751998473 0.00005
NM_001372044.2(SHANK3):c.1513G>A (p.Gly505Ser) rs563454435 0.00004
NM_001372044.2(SHANK3):c.2385C>T (p.Ala795=) rs372388703 0.00004
NM_001372044.2(SHANK3):c.2479G>A (p.Ala827Thr) rs749080314 0.00004
NM_001372044.2(SHANK3):c.2745G>A (p.Pro915=) rs1453397190 0.00004
NM_001372044.2(SHANK3):c.4083A>G (p.Pro1361=) rs371543035 0.00004
NM_001372044.2(SHANK3):c.4581C>T (p.Ala1527=) rs530029288 0.00004
NM_001372044.2(SHANK3):c.4924G>A (p.Gly1642Ser) rs1050241731 0.00004
NM_001372044.2(SHANK3):c.2296C>T (p.Leu766=) rs201094179 0.00003
NM_001372044.2(SHANK3):c.3309G>T (p.Val1103=) rs746196255 0.00003
NM_001372044.2(SHANK3):c.3337A>G (p.Ser1113Gly) rs949742097 0.00003
NM_001372044.2(SHANK3):c.3918C>G (p.Arg1306=) rs1415046695 0.00003
NM_001372044.2(SHANK3):c.4133G>A (p.Arg1378Gln) rs765793587 0.00003
NM_001372044.2(SHANK3):c.4202C>T (p.Pro1401Leu) rs768398764 0.00003
NM_001372044.2(SHANK3):c.5160C>T (p.Pro1720=) rs751652089 0.00003
NM_001372044.2(SHANK3):c.766C>T (p.Arg256Cys) rs1030097250 0.00003
NM_001372044.2(SHANK3):c.928C>T (p.Leu310=) rs756340256 0.00003
NM_001372044.2(SHANK3):c.1112+4C>T rs376588105 0.00002
NM_001372044.2(SHANK3):c.2678A>C (p.Gln893Pro) rs1020480936 0.00002
NM_001372044.2(SHANK3):c.3507C>A (p.Ile1169=) rs746818601 0.00002
NM_001372044.2(SHANK3):c.3547C>T (p.Leu1183=) rs764710574 0.00002
NM_001372044.2(SHANK3):c.3616G>C (p.Val1206Leu) rs201641613 0.00002
NM_001372044.2(SHANK3):c.3760A>G (p.Lys1254Glu) rs771528741 0.00002
NM_001372044.2(SHANK3):c.3985C>T (p.Pro1329Ser) rs748123356 0.00002
NM_001372044.2(SHANK3):c.4097C>T (p.Ser1366Leu) rs773196497 0.00002
NM_001372044.2(SHANK3):c.4365C>T (p.Ser1455=) rs371175325 0.00002
NM_001372044.2(SHANK3):c.4667G>A (p.Arg1556Gln) rs1216527991 0.00002
NM_001372044.2(SHANK3):c.588C>G (p.Asp196Glu) rs370856789 0.00002
NM_001372044.2(SHANK3):c.1144G>T (p.Ala382Ser) rs1234645097 0.00001
NM_001372044.2(SHANK3):c.1175A>G (p.Gln392Arg) rs765089490 0.00001
NM_001372044.2(SHANK3):c.1251T>C (p.Asp417=) rs1377234347 0.00001
NM_001372044.2(SHANK3):c.1312G>A (p.Gly438Ser) rs368073391 0.00001
NM_001372044.2(SHANK3):c.1384G>A (p.Ala462Thr) rs924786980 0.00001
NM_001372044.2(SHANK3):c.1689-13C>T rs547613640 0.00001
NM_001372044.2(SHANK3):c.1793A>G (p.Asp598Gly) rs1456892761 0.00001
NM_001372044.2(SHANK3):c.1832G>A (p.Arg611Gln) rs767437118 0.00001
NM_001372044.2(SHANK3):c.2145G>A (p.Lys715=) rs373607816 0.00001
NM_001372044.2(SHANK3):c.2239G>A (p.Gly747Arg) rs763010846 0.00001
NM_001372044.2(SHANK3):c.2261C>T (p.Pro754Leu) rs1257874744 0.00001
NM_001372044.2(SHANK3):c.2301-11T>C rs946851711 0.00001
NM_001372044.2(SHANK3):c.2398A>G (p.Thr800Ala) rs748955765 0.00001
NM_001372044.2(SHANK3):c.2437G>A (p.Ala813Thr) rs373822999 0.00001
NM_001372044.2(SHANK3):c.2455+1G>A rs1396379503 0.00001
NM_001372044.2(SHANK3):c.2968C>G (p.Pro990Ala) rs975392090 0.00001
NM_001372044.2(SHANK3):c.3144C>T (p.Ser1048=) rs760688077 0.00001
NM_001372044.2(SHANK3):c.3196G>A (p.Gly1066Ser) rs900070859 0.00001
NM_001372044.2(SHANK3):c.3294G>A (p.Arg1098=) rs757833825 0.00001
NM_001372044.2(SHANK3):c.3343C>T (p.Pro1115Ser) rs762947232 0.00001
NM_001372044.2(SHANK3):c.3353A>C (p.Asp1118Ala) rs1064793828 0.00001
NM_001372044.2(SHANK3):c.3487C>T (p.Pro1163Ser) rs565975948 0.00001
NM_001372044.2(SHANK3):c.350C>T (p.Ala117Val) rs1461739965 0.00001
NM_001372044.2(SHANK3):c.3527C>T (p.Pro1176Leu) rs768527232 0.00001
NM_001372044.2(SHANK3):c.3675C>T (p.Asp1225=) rs747936370 0.00001
NM_001372044.2(SHANK3):c.3779G>A (p.Arg1260Gln) rs752694316 0.00001
NM_001372044.2(SHANK3):c.3784T>A (p.Ser1262Thr) rs946579020 0.00001
NM_001372044.2(SHANK3):c.3852C>T (p.Leu1284=) rs753765611 0.00001
NM_001372044.2(SHANK3):c.4006G>A (p.Gly1336Ser) rs752227380 0.00001
NM_001372044.2(SHANK3):c.4024G>A (p.Gly1342Arg) rs773137381 0.00001
NM_001372044.2(SHANK3):c.4134A>T (p.Arg1378=) rs750852888 0.00001
NM_001372044.2(SHANK3):c.4211C>T (p.Ser1404Leu) rs1464985103 0.00001
NM_001372044.2(SHANK3):c.4233G>A (p.Pro1411=) rs369083529 0.00001
NM_001372044.2(SHANK3):c.4377C>T (p.Thr1459=) rs1264636649 0.00001
NM_001372044.2(SHANK3):c.4436C>T (p.Thr1479Ile) rs777394030 0.00001
NM_001372044.2(SHANK3):c.4520C>T (p.Pro1507Leu) rs752413653 0.00001
NM_001372044.2(SHANK3):c.4600G>A (p.Gly1534Arg) rs1440735830 0.00001
NM_001372044.2(SHANK3):c.4657G>A (p.Val1553Met) rs530777182 0.00001
NM_001372044.2(SHANK3):c.4749G>A (p.Thr1583=) rs751058928 0.00001
NM_001372044.2(SHANK3):c.492G>A (p.Glu164=) rs1377264220 0.00001
NM_001372044.2(SHANK3):c.4950C>T (p.Ala1650=) rs1169261374 0.00001
NM_001372044.2(SHANK3):c.5071A>G (p.Ile1691Val) rs991616356 0.00001
NM_001372044.2(SHANK3):c.5079C>T (p.His1693=) rs917429108 0.00001
NM_001372044.2(SHANK3):c.609G>A (p.Thr203=) rs555588172 0.00001
NM_001372044.2(SHANK3):c.828-6C>A rs748298696 0.00001
NM_001372044.2(SHANK3):c.869G>A (p.Arg290His) rs775487427 0.00001
NM_001372044.2(SHANK3):c.994G>A (p.Ala332Thr) rs1210893160 0.00001
GRCh37/hg19 22q13.33(chr22:51068560-51124975)x3
GRCh37/hg19 22q13.33(chr22:51107230-51166282)x3
GRCh37/hg19 22q13.33(chr22:51123491-51144365)
GRCh37/hg19 22q13.33(chr22:51127897-51176099)x1
GRCh37/hg19 22q13.33(chr22:51132804-51144365)
GRCh37/hg19 22q13.33(chr22:51137117-51171693)x0
GRCh37/hg19 22q13.33(chr22:51153345-51162581)x1
NC_000022.11:g.50697558T>C
NM_001372044.2(SHANK3):c.*29T>G
NM_001372044.2(SHANK3):c.*50del
NM_001372044.2(SHANK3):c.1012G>A (p.Val338Met)
NM_001372044.2(SHANK3):c.1037T>G (p.Phe346Cys)
NM_001372044.2(SHANK3):c.1040A>G (p.Tyr347Cys) rs1555905749
NM_001372044.2(SHANK3):c.1052T>C (p.Met351Thr)
NM_001372044.2(SHANK3):c.1052T>G (p.Met351Arg)
NM_001372044.2(SHANK3):c.1054G>A (p.Gly352Arg) rs796878782
NM_001372044.2(SHANK3):c.1056G>T (p.Gly352=)
NM_001372044.2(SHANK3):c.1065C>G (p.Asn355Lys) rs200400333
NM_001372044.2(SHANK3):c.1066G>A (p.Ala356Thr)
NM_001372044.2(SHANK3):c.1087C>T (p.His363Tyr) rs2146773272
NM_001372044.2(SHANK3):c.1111-8C>T
NM_001372044.2(SHANK3):c.1112+1G>A rs1555905767
NM_001372044.2(SHANK3):c.1112+5G>T rs370396444
NM_001372044.2(SHANK3):c.1113-207G>T rs9616933
NM_001372044.2(SHANK3):c.1138C>G (p.Arg380Gly)
NM_001372044.2(SHANK3):c.1138C>T (p.Arg380Cys) rs2082981691
NM_001372044.2(SHANK3):c.1153G>C (p.Asp385His) rs2124372223
NM_001372044.2(SHANK3):c.1161C>A (p.Arg387=) rs2124372227
NM_001372044.2(SHANK3):c.1177A>G (p.Thr393Ala)
NM_001372044.2(SHANK3):c.1181C>T (p.Ala394Val) rs2124372229
NM_001372044.2(SHANK3):c.1188+7C>T
NM_001372044.2(SHANK3):c.1188+8G>A
NM_001372044.2(SHANK3):c.1191-6C>T
NM_001372044.2(SHANK3):c.1235C>G rs869312715
NM_001372044.2(SHANK3):c.1235C>T (p.Thr412Ile)
NM_001372044.2(SHANK3):c.1255G>T (p.Val419Leu) rs1057519406
NM_001372044.2(SHANK3):c.1257+4A>G rs1555906705
NM_001372044.2(SHANK3):c.125G>C (p.Gly42Ala)
NM_001372044.2(SHANK3):c.1294C>T (p.Arg432Ter)
NM_001372044.2(SHANK3):c.1307C>G (p.Pro436Arg)
NM_001372044.2(SHANK3):c.1336C>T (p.Gln446Ter) rs2146794652
NM_001372044.2(SHANK3):c.1353T>C (p.Asp451=) rs1196417230
NM_001372044.2(SHANK3):c.1390C>T (p.Pro464Ser) rs2146794712
NM_001372044.2(SHANK3):c.1413C>T (p.Leu471=)
NM_001372044.2(SHANK3):c.1431C>T (p.Leu477=)
NM_001372044.2(SHANK3):c.1471G>A (p.Asp491Asn)
NM_001372044.2(SHANK3):c.1482C>G (p.Ser494Arg)
NM_001372044.2(SHANK3):c.1511C>T (p.Ala504Val)
NM_001372044.2(SHANK3):c.1529+46G>A rs2146795039
NM_001372044.2(SHANK3):c.1530-182CCGCGT[3] rs538667292
NM_001372044.2(SHANK3):c.1530-280del rs745950788
NM_001372044.2(SHANK3):c.1530-280dup rs745950788
NM_001372044.2(SHANK3):c.1530-390A>T rs28735993
NM_001372044.2(SHANK3):c.1547G>C (p.Gly516Ala)
NM_001372044.2(SHANK3):c.1551del (p.Gly518fs) rs2124372231
NM_001372044.2(SHANK3):c.155G>A (p.Gly52Glu)
NM_001372044.2(SHANK3):c.1593dup (p.Ala532fs) rs1064797289
NM_001372044.2(SHANK3):c.1594G>A (p.Ala532Thr) rs1053116057
NM_001372044.2(SHANK3):c.1598C>T (p.Pro533Leu) rs1555907951
NM_001372044.2(SHANK3):c.160_165= (p.Arg54_Ala55=) rs566877404
NM_001372044.2(SHANK3):c.1613C>T (p.Pro538Leu) rs2146799027
NM_001372044.2(SHANK3):c.1619_1629dup (p.Ser544fs)
NM_001372044.2(SHANK3):c.1688+203C>T rs374568483
NM_001372044.2(SHANK3):c.1688+21_1688+30del
NM_001372044.2(SHANK3):c.1689-3C>T rs565420289
NM_001372044.2(SHANK3):c.1695C>G (p.Ile565Met)
NM_001372044.2(SHANK3):c.16GCC[10] (p.Ala13_Pro14insAlaAla)
NM_001372044.2(SHANK3):c.16GCC[7] (p.Ala13del)
NM_001372044.2(SHANK3):c.16GCC[9] (p.Ala13_Pro14insAla)
NM_001372044.2(SHANK3):c.1721del (p.Lys574fs) rs1064797290
NM_001372044.2(SHANK3):c.1733T>C (p.Ile578Thr) rs1333345587
NM_001372044.2(SHANK3):c.1776G>A (p.Thr592=)
NM_001372044.2(SHANK3):c.1792G>C (p.Asp598His)
NM_001372044.2(SHANK3):c.1794C>A (p.Asp598Glu) rs2146800699
NM_001372044.2(SHANK3):c.1797C>A (p.Cys599Ter) rs377573165
NM_001372044.2(SHANK3):c.1802+22C>G rs11704325
NM_001372044.2(SHANK3):c.1802+22C>T rs11704325
NM_001372044.2(SHANK3):c.1814_1819dup (p.Arg606_Gln607insLeuArg) rs1555908096
NM_001372044.2(SHANK3):c.1824T>G (p.His608Gln)
NM_001372044.2(SHANK3):c.1827C>A (p.Asp609Glu)
NM_001372044.2(SHANK3):c.1831C>T (p.Arg611Trp) rs387906933
NM_001372044.2(SHANK3):c.2087-2_2093del rs2146808453
NM_001372044.2(SHANK3):c.2149G>A (p.Gly717Arg) rs1569108417
NM_001372044.2(SHANK3):c.2176C>G (p.Arg726Gly)
NM_001372044.2(SHANK3):c.2187C>T (p.Gly729=)
NM_001372044.2(SHANK3):c.2197G>A (p.Val733Ile)
NM_001372044.2(SHANK3):c.2214T>C (p.Ser738=) rs2146808552
NM_001372044.2(SHANK3):c.2219+162G>T rs148828263
NM_001372044.2(SHANK3):c.2219+82C>G rs76179018
NM_001372044.2(SHANK3):c.2220-134C>T
NM_001372044.2(SHANK3):c.2220-195G>C rs4824145
NM_001372044.2(SHANK3):c.2220-196_2220-195insCCCAC rs947564448
NM_001372044.2(SHANK3):c.2220-23C>T
NM_001372044.2(SHANK3):c.2220-83G>A
NM_001372044.2(SHANK3):c.2220-8_2220-6del rs1603446766
NM_001372044.2(SHANK3):c.2228C>G (p.Pro743Arg)
NM_001372044.2(SHANK3):c.2236G>A (p.Asp746Asn)
NM_001372044.2(SHANK3):c.2268C>G (p.Pro756=) rs61731160
NM_001372044.2(SHANK3):c.2289A>C (p.Thr763=)
NM_001372044.2(SHANK3):c.2294C>T (p.Thr765Ile) rs2146810295
NM_001372044.2(SHANK3):c.2300+3G>C rs2083163077
NM_001372044.2(SHANK3):c.2300+4_2300+12del
NM_001372044.2(SHANK3):c.2300G>A (p.Arg767His) rs1064796528
NM_001372044.2(SHANK3):c.2301-5C>T rs181480774
NM_001372044.2(SHANK3):c.2310C>T (p.Ser770=)
NM_001372044.2(SHANK3):c.2324+1del rs2146817773
NM_001372044.2(SHANK3):c.2325-8C>A
NM_001372044.2(SHANK3):c.2329G>T (p.Glu777Ter) rs1131691960
NM_001372044.2(SHANK3):c.2353A>G (p.Lys785Glu)
NM_001372044.2(SHANK3):c.2357G>C (p.Gly786Ala)
NM_001372044.2(SHANK3):c.2361G>C (p.Glu787Asp)
NM_001372044.2(SHANK3):c.2365C>T (p.Leu789=) rs1447758824
NM_001372044.2(SHANK3):c.2368G>A (p.Asp790Asn) rs1555909545
NM_001372044.2(SHANK3):c.2410_2413del (p.Asp804fs)
NM_001372044.2(SHANK3):c.2416G>A (p.Ala806Thr)
NM_001372044.2(SHANK3):c.2421C>T (p.Asp807=)
NM_001372044.2(SHANK3):c.2452_2453del (p.Arg818fs) rs2083233502
NM_001372044.2(SHANK3):c.2455+1G>C
NM_001372044.2(SHANK3):c.2459C>A (p.Thr820Asn)
NM_001372044.2(SHANK3):c.2470A>G (p.Ile824Val)
NM_001372044.2(SHANK3):c.2478del (p.Ala827fs) rs2083233723
NM_001372044.2(SHANK3):c.2487T>G (p.Ile829Met)
NM_001372044.2(SHANK3):c.2507A>G (p.Gln836Arg) rs2083239098
NM_001372044.2(SHANK3):c.2540+50_2540+51insTATGG rs759259990
NM_001372044.2(SHANK3):c.2540+50_2540+51insTATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGG rs780075591
NM_001372044.2(SHANK3):c.2541-1G>C rs2083271355
NM_001372044.2(SHANK3):c.2543T>C (p.Leu848Ser)
NM_001372044.2(SHANK3):c.2545C>G (p.Arg849Gly) rs766205731
NM_001372044.2(SHANK3):c.2545C>T (p.Arg849Trp)
NM_001372044.2(SHANK3):c.2553del (p.Ile852fs) rs1064796526
NM_001372044.2(SHANK3):c.2588A>G (p.Lys863Arg)
NM_001372044.2(SHANK3):c.2612G>A (p.Arg871His)
NM_001372044.2(SHANK3):c.2617C>T (p.Pro873Ser)
NM_001372044.2(SHANK3):c.2639A>G (p.Asp880Gly)
NM_001372044.2(SHANK3):c.2641C>A (p.Pro881Thr)
NM_001372044.2(SHANK3):c.2648G>C (p.Arg883Pro) rs2083272071
NM_001372044.2(SHANK3):c.2652G>C (p.Glu884Asp)
NM_001372044.2(SHANK3):c.2664C>G (p.Ile888Met) rs1603447099
NM_001372044.2(SHANK3):c.2667G>C (p.Pro889=) rs1569114747
NM_001372044.2(SHANK3):c.2673G>C (p.Pro891=) rs1569114751
NM_001372044.2(SHANK3):c.2676G>C (p.Pro892=) rs1173390690
NM_001372044.2(SHANK3):c.2682C>A (p.Thr894=)
NM_001372044.2(SHANK3):c.2685G>C (p.Ala895=) rs1569114769
NM_001372044.2(SHANK3):c.2688G>C (p.Pro896=)
NM_001372044.2(SHANK3):c.2697G>C (p.Pro899=)
NM_001372044.2(SHANK3):c.2703G>A (p.Ala901=)
NM_001372044.2(SHANK3):c.2712C>T (p.Tyr904=)
NM_001372044.2(SHANK3):c.2717A>G (p.Asp906Gly)
NM_001372044.2(SHANK3):c.2720C>T (p.Ser907Leu)
NM_001372044.2(SHANK3):c.2728C>T (p.Pro910Ser)
NM_001372044.2(SHANK3):c.2734G>C (p.Ala912Pro) rs1209403984
NM_001372044.2(SHANK3):c.2765C>G (p.Ala922Gly)
NM_001372044.2(SHANK3):c.2768A>G (p.Tyr923Cys)
NM_001372044.2(SHANK3):c.2769C>G (p.Tyr923Ter) rs1191090323
NM_001372044.2(SHANK3):c.2838C>A (p.Tyr946Ter) rs1001153999
NM_001372044.2(SHANK3):c.2838C>T (p.Tyr946=)
NM_001372044.2(SHANK3):c.2842C>G (p.Pro948Ala)
NM_001372044.2(SHANK3):c.2847C>T (p.Gly949=)
NM_001372044.2(SHANK3):c.2849C>G (p.Ala950Gly) rs1326735946
NM_001372044.2(SHANK3):c.2849C>T (p.Ala950Val)
NM_001372044.2(SHANK3):c.2869dup (p.Tyr957fs)
NM_001372044.2(SHANK3):c.2871T>A (p.Tyr957Ter)
NM_001372044.2(SHANK3):c.2877G>C (p.Glu959Asp)
NM_001372044.2(SHANK3):c.2881C>T (p.Gln961Ter) rs2083274586
NM_001372044.2(SHANK3):c.2891C>G (p.Ala964Gly)
NM_001372044.2(SHANK3):c.2894G>C (p.Arg965Pro)
NM_001372044.2(SHANK3):c.2897C>A (p.Ser966Tyr)
NM_001372044.2(SHANK3):c.290+6C>T
NM_001372044.2(SHANK3):c.2914_2948del (p.Asp972fs)
NM_001372044.2(SHANK3):c.2920del (p.Ala974fs) rs1555910013
NM_001372044.2(SHANK3):c.2951dup (p.Pro985fs) rs1603447111
NM_001372044.2(SHANK3):c.2957_2971del (p.Ala986_Pro990del) rs1048276757
NM_001372044.2(SHANK3):c.2958G>C (p.Ala986=)
NM_001372044.2(SHANK3):c.2962A>C (p.Thr988Pro)
NM_001372044.2(SHANK3):c.2962_2996del (p.Thr988fs) rs2083275468
NM_001372044.2(SHANK3):c.2967G>A (p.Pro989=)
NM_001372044.2(SHANK3):c.2970del (p.Glu991fs)
NM_001372044.2(SHANK3):c.2971_2979dup (p.Pro993_Lys994insGluArgPro)
NM_001372044.2(SHANK3):c.2972A>C (p.Glu991Ala)
NM_001372044.2(SHANK3):c.2974C>T (p.Arg992Ter) rs1327088096
NM_001372044.2(SHANK3):c.2981A>C (p.Lys994Thr)
NM_001372044.2(SHANK3):c.2986C>T (p.Arg996Trp) rs2083275877
NM_001372044.2(SHANK3):c.2990del (p.Pro997fs) rs2083275928
NM_001372044.2(SHANK3):c.3001G>A (p.Gly1001Ser)
NM_001372044.2(SHANK3):c.3004C>T (p.Pro1002Ser)
NM_001372044.2(SHANK3):c.3008A>C (p.Asp1003Ala)
NM_001372044.2(SHANK3):c.3010A>C (p.Ser1004Arg)
NM_001372044.2(SHANK3):c.3012C>T (p.Ser1004=)
NM_001372044.2(SHANK3):c.3014C>T (p.Pro1005Leu) rs2083276245
NM_001372044.2(SHANK3):c.3019G>A (p.Ala1007Thr)
NM_001372044.2(SHANK3):c.3021C>A (p.Ala1007=) rs1367333501
NM_001372044.2(SHANK3):c.3032C>T (p.Ala1011Val) rs1569114967
NM_001372044.2(SHANK3):c.3033C>G (p.Ala1011=)
NM_001372044.2(SHANK3):c.3069_3076dup (p.Lys1026fs) rs1555910034
NM_001372044.2(SHANK3):c.3074G>A (p.Arg1025His) rs1231632189
NM_001372044.2(SHANK3):c.3082C>T (p.Pro1028Ser)
NM_001372044.2(SHANK3):c.3083C>G (p.Pro1028Arg) rs779406129
NM_001372044.2(SHANK3):c.3128C>A (p.Ala1043Asp) rs2146829940
NM_001372044.2(SHANK3):c.312C>A (p.Ala104=)
NM_001372044.2(SHANK3):c.3130C>A (p.Leu1044Met)
NM_001372044.2(SHANK3):c.3130C>G (p.Leu1044Val)
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser) rs530255181
NM_001372044.2(SHANK3):c.3134_3149dup (p.Pro1051fs) rs1555910048
NM_001372044.2(SHANK3):c.3151C>T (p.Pro1051Ser) rs2146830003
NM_001372044.2(SHANK3):c.3153C>A (p.Pro1051=) rs1183722632
NM_001372044.2(SHANK3):c.3153del (p.Gly1052fs) rs886041869
NM_001372044.2(SHANK3):c.3159_3179delinsGGCAG (p.Gly1054fs) rs2146830032
NM_001372044.2(SHANK3):c.315G>A (p.Ala105=)
NM_001372044.2(SHANK3):c.3162_3165del (p.Phe1056fs) rs2083278122
NM_001372044.2(SHANK3):c.3173G>C (p.Arg1058Pro) rs1000364280
NM_001372044.2(SHANK3):c.3175G>T (p.Glu1059Ter) rs2083278313
NM_001372044.2(SHANK3):c.3187_3188insGCTCTCCCCGA (p.Thr1063fs)
NM_001372044.2(SHANK3):c.3189_3202del (p.His1064fs)
NM_001372044.2(SHANK3):c.318C>G (p.Pro106=)
NM_001372044.2(SHANK3):c.3191A>C (p.His1064Pro)
NM_001372044.2(SHANK3):c.3195C>A (p.Arg1065=) rs1569115121
NM_001372044.2(SHANK3):c.3197G>C (p.Gly1066Ala)
NM_001372044.2(SHANK3):c.319G>T (p.Val107Leu) rs2082908926
NM_001372044.2(SHANK3):c.3202C>A (p.Arg1068Ser) rs2083278623
NM_001372044.2(SHANK3):c.3209del (p.Gly1070fs) rs2083278717
NM_001372044.2(SHANK3):c.3216C>A (p.Leu1072=)
NM_001372044.2(SHANK3):c.3226G>A (p.Ala1076Thr) rs1555910078
NM_001372044.2(SHANK3):c.3233A>C (p.Asp1078Ala) rs2146830229
NM_001372044.2(SHANK3):c.3250T>G (p.Phe1084Val)
NM_001372044.2(SHANK3):c.3251del (p.Phe1084fs)
NM_001372044.2(SHANK3):c.3257G>C (p.Gly1086Ala) rs767058690
NM_001372044.2(SHANK3):c.3270_3280del (p.Lys1091fs) rs2083279575
NM_001372044.2(SHANK3):c.3277C>T (p.Arg1093Trp)
NM_001372044.2(SHANK3):c.3279G>C (p.Arg1093=) rs2146830361
NM_001372044.2(SHANK3):c.3286del (p.Glu1096fs)
NM_001372044.2(SHANK3):c.3297C>T (p.Arg1099=)
NM_001372044.2(SHANK3):c.3302C>T (p.Ser1101Phe) rs1555910094
NM_001372044.2(SHANK3):c.3304A>G (p.Thr1102Ala)
NM_001372044.2(SHANK3):c.330C>T (p.Ala110=)
NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs) rs2083280147
NM_001372044.2(SHANK3):c.3322G>A (p.Gly1108Arg) rs1555910097
NM_001372044.2(SHANK3):c.3325_3349del (p.Ala1109fs) rs1603447122
NM_001372044.2(SHANK3):c.3325del (p.Ala1109fs) rs2083280269
NM_001372044.2(SHANK3):c.3327C>A (p.Ala1109=)
NM_001372044.2(SHANK3):c.3339C>T (p.Ser1113=)
NM_001372044.2(SHANK3):c.3341C>A (p.Ala1114Asp)
NM_001372044.2(SHANK3):c.3345C>T (p.Pro1115=)
NM_001372044.2(SHANK3):c.334C>T (p.Gln112Ter) rs547796852
NM_001372044.2(SHANK3):c.3352G>C (p.Asp1118His)
NM_001372044.2(SHANK3):c.3356T>C (p.Leu1119Pro)
NM_001372044.2(SHANK3):c.335A>C (p.Gln112Pro)
NM_001372044.2(SHANK3):c.3360A>G (p.Pro1120=)
NM_001372044.2(SHANK3):c.3374C>T (p.Ser1125Phe) rs1603447124
NM_001372044.2(SHANK3):c.3381C>T (p.Ser1127=)
NM_001372044.2(SHANK3):c.3387C>T (p.Asp1129=)
NM_001372044.2(SHANK3):c.3388del (p.Glu1130fs) rs2146830613
NM_001372044.2(SHANK3):c.3389del (p.Glu1130fs)
NM_001372044.2(SHANK3):c.3390G>T (p.Glu1130Asp)
NM_001372044.2(SHANK3):c.3398T>C (p.Leu1133Pro) rs2146830640
NM_001372044.2(SHANK3):c.3401G>A (p.Gly1134Glu)
NM_001372044.2(SHANK3):c.3404C>G (p.Thr1135Ser)
NM_001372044.2(SHANK3):c.3408C>G (p.Gly1136=) rs748205250
NM_001372044.2(SHANK3):c.3411del (p.Thr1138fs) rs1131691816
NM_001372044.2(SHANK3):c.3425A>C (p.Asp1142Ala)
NM_001372044.2(SHANK3):c.3440_3455dup (p.Lys1153fs) rs2083281950
NM_001372044.2(SHANK3):c.3443C>G (p.Pro1148Arg)
NM_001372044.2(SHANK3):c.3443C>T (p.Pro1148Leu)
NM_001372044.2(SHANK3):c.3443_3449del (p.Pro1148fs)
NM_001372044.2(SHANK3):c.3443del (p.Pro1148fs)
NM_001372044.2(SHANK3):c.3455T>A (p.Leu1152Gln)
NM_001372044.2(SHANK3):c.3460C>T (p.Pro1154Ser)
NM_001372044.2(SHANK3):c.3480_3484del (p.Ser1160fs) rs1064793925
NM_001372044.2(SHANK3):c.3502_3535del (p.Phe1168fs)
NM_001372044.2(SHANK3):c.351C>T (p.Ala117=) rs974149501
NM_001372044.2(SHANK3):c.3526C>G (p.Pro1176Ala) rs1385920913
NM_001372044.2(SHANK3):c.3539G>T (p.Ser1180Ile)
NM_001372044.2(SHANK3):c.3561G>T (p.Leu1187=) rs2083283470
NM_001372044.2(SHANK3):c.3566C>T (p.Ala1189Val)
NM_001372044.2(SHANK3):c.3568C>T (p.Arg1190Ter)
NM_001372044.2(SHANK3):c.356A>G (p.Asn119Ser)
NM_001372044.2(SHANK3):c.3574C>T (p.Arg1192Ter) rs387906932
NM_001372044.2(SHANK3):c.3592G>C (p.Ala1198Pro) rs2146831056
NM_001372044.2(SHANK3):c.3595C>T (p.Pro1199Ser) rs2146831070
NM_001372044.2(SHANK3):c.3596C>T (p.Pro1199Leu)
NM_001372044.2(SHANK3):c.3597C>G (p.Pro1199=)
NM_001372044.2(SHANK3):c.3597del (p.Ser1200fs) rs2083283892
NM_001372044.2(SHANK3):c.3626C>A (p.Pro1209His)
NM_001372044.2(SHANK3):c.3626C>G (p.Pro1209Arg)
NM_001372044.2(SHANK3):c.3635dup (p.Asp1212fs)
NM_001372044.2(SHANK3):c.3636C>G (p.Asp1212Glu) rs2146831187
NM_001372044.2(SHANK3):c.3646C>G (p.Pro1216Ala)
NM_001372044.2(SHANK3):c.3648C>T (p.Pro1216=)
NM_001372044.2(SHANK3):c.3656T>C (p.Val1219Ala)
NM_001372044.2(SHANK3):c.3661G>A (p.Val1221Ile) rs2146831275
NM_001372044.2(SHANK3):c.3664C>T (p.Gln1222Ter) rs751604326
NM_001372044.2(SHANK3):c.3679dup (p.Glu1227fs)
NM_001372044.2(SHANK3):c.3689C>G (p.Ser1230Cys)
NM_001372044.2(SHANK3):c.3690C>T (p.Ser1230=)
NM_001372044.2(SHANK3):c.3708C>A (p.Phe1236Leu)
NM_001372044.2(SHANK3):c.3710C>T (p.Ser1237Phe)
NM_001372044.2(SHANK3):c.3712C>T (p.Pro1238Ser)
NM_001372044.2(SHANK3):c.3736G>C (p.Val1246Leu)
NM_001372044.2(SHANK3):c.3760A>T (p.Lys1254Ter) rs771528741
NM_001372044.2(SHANK3):c.3765C>A (p.Val1255=)
NM_001372044.2(SHANK3):c.3766C>A (p.Pro1256Thr) rs200188413
NM_001372044.2(SHANK3):c.3777G>A (p.Glu1259=) rs763158627
NM_001372044.2(SHANK3):c.3790G>C (p.Glu1264Gln)
NM_001372044.2(SHANK3):c.3793G>A (p.Asp1265Asn)
NM_001372044.2(SHANK3):c.3806T>C (p.Met1269Thr) rs797045960
NM_001372044.2(SHANK3):c.3832C>T (p.Leu1278=)
NM_001372044.2(SHANK3):c.3848del (p.Gly1283fs) rs1569115756
NM_001372044.2(SHANK3):c.3857_3858insG (p.Val1287fs) rs2083287837
NM_001372044.2(SHANK3):c.3865dup (p.Ala1289fs) rs2146831793
NM_001372044.2(SHANK3):c.3867C>T (p.Ala1289=)
NM_001372044.2(SHANK3):c.3867dup (p.Thr1290fs) rs2083287955
NM_001372044.2(SHANK3):c.3868A>T (p.Thr1290Ser)
NM_001372044.2(SHANK3):c.3870C>T (p.Thr1290=)
NM_001372044.2(SHANK3):c.3880C>G (p.Gln1294Glu)
NM_001372044.2(SHANK3):c.3899G>A (p.Gly1300Glu)
NM_001372044.2(SHANK3):c.3903G>T (p.Gly1301=) rs772120494
NM_001372044.2(SHANK3):c.3907G>T (p.Glu1303Ter) rs761720914
NM_001372044.2(SHANK3):c.3912G>A (p.Glu1304=) rs1264964864
NM_001372044.2(SHANK3):c.3916C>G (p.Arg1306Gly) rs765080418
NM_001372044.2(SHANK3):c.3928C>T (p.Pro1310Ser)
NM_001372044.2(SHANK3):c.3929C>A (p.Pro1310Gln)
NM_001372044.2(SHANK3):c.3929C>G (p.Pro1310Arg)
NM_001372044.2(SHANK3):c.3941C>T (p.Pro1314Leu) rs753314270
NM_001372044.2(SHANK3):c.3943G>C (p.Ala1315Pro)
NM_001372044.2(SHANK3):c.3949dup (p.Met1317fs)
NM_001372044.2(SHANK3):c.3950T>G (p.Met1317Arg)
NM_001372044.2(SHANK3):c.3952_3964del (p.Gln1318fs) rs2146832070
NM_001372044.2(SHANK3):c.3952dup (p.Gln1318fs)
NM_001372044.2(SHANK3):c.3976_3988del (p.Leu1326fs) rs1555910178
NM_001372044.2(SHANK3):c.3977_3989del (p.Leu1326fs) rs1555910182
NM_001372044.2(SHANK3):c.3988dup (p.Arg1330fs) rs1603447135
NM_001372044.2(SHANK3):c.3989G>A (p.Arg1330Gln)
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs) rs886041238
NM_001372044.2(SHANK3):c.3991G>T (p.Ala1331Ser)
NM_001372044.2(SHANK3):c.3991dup (p.Ala1331fs) rs1603447136
NM_001372044.2(SHANK3):c.3996_4000dup (p.Pro1334fs) rs2146832177
NM_001372044.2(SHANK3):c.399G>T (p.Pro133=)
NM_001372044.2(SHANK3):c.4013dup (p.Ala1339fs) rs1555910193
NM_001372044.2(SHANK3):c.4018G>C (p.Asp1340His)
NM_001372044.2(SHANK3):c.4019A>T (p.Asp1340Val) rs374885308
NM_001372044.2(SHANK3):c.4020C>T (p.Asp1340=)
NM_001372044.2(SHANK3):c.4027C>T (p.Pro1343Ser)
NM_001372044.2(SHANK3):c.4036G>C (p.Gly1346Arg) rs1433943238
NM_001372044.2(SHANK3):c.4040G>A (p.Ser1347Asn) rs2146832312
NM_001372044.2(SHANK3):c.4052A>C (p.Glu1351Ala)
NM_001372044.2(SHANK3):c.4061T>G (p.Leu1354Arg)
NM_001372044.2(SHANK3):c.4077C>T (p.Asn1359=)
NM_001372044.2(SHANK3):c.4081C>T (p.Pro1361Ser) rs1219979283
NM_001372044.2(SHANK3):c.4088C>T (p.Ala1363Val)
NM_001372044.2(SHANK3):c.4090C>T (p.Gln1364Ter) rs1038102194
NM_001372044.2(SHANK3):c.409G>C (p.Gly137Arg)
NM_001372044.2(SHANK3):c.4105G>C (p.Asp1369His)
NM_001372044.2(SHANK3):c.4108GAG[1] (p.Glu1371del) rs1462066038
NM_001372044.2(SHANK3):c.4108del (p.Glu1370fs) rs1555910212
NM_001372044.2(SHANK3):c.4132C>T (p.Arg1378Ter) rs1238131472
NM_001372044.2(SHANK3):c.4144G>T (p.Val1382Leu)
NM_001372044.2(SHANK3):c.4150C>T (p.Pro1384Ser) rs1482351235
NM_001372044.2(SHANK3):c.4156del (p.Glu1386fs) rs1555910219
NM_001372044.2(SHANK3):c.415G>A (p.Ala139Thr) rs2082909895
NM_001372044.2(SHANK3):c.4160_4161del (p.Glu1387fs) rs1603447139
NM_001372044.2(SHANK3):c.4169A>C (p.Asn1390Thr)
NM_001372044.2(SHANK3):c.4170C>G (p.Asn1390Lys)
NM_001372044.2(SHANK3):c.4173G>A (p.Gly1391=)
NM_001372044.2(SHANK3):c.4181T>G (p.Leu1394Arg)
NM_001372044.2(SHANK3):c.4193del (p.Leu1398fs) rs2083292400
NM_001372044.2(SHANK3):c.4198G>A (p.Gly1400Ser)
NM_001372044.2(SHANK3):c.4224G>T (p.Val1408=)
NM_001372044.2(SHANK3):c.4254_4255del (p.Ser1418fs) rs1057519395
NM_001372044.2(SHANK3):c.4257_4260del (p.Glu1419fs) rs1569116167
NM_001372044.2(SHANK3):c.4261C>A (p.Pro1421Thr) rs752824629
NM_001372044.2(SHANK3):c.4264C>T (p.Pro1422Ser) rs1398660041
NM_001372044.2(SHANK3):c.4265C>G (p.Pro1422Arg)
NM_001372044.2(SHANK3):c.4265dup (p.Ala1423fs)
NM_001372044.2(SHANK3):c.4268C>G (p.Ala1423Gly) rs756226608
NM_001372044.2(SHANK3):c.4269C>T (p.Ala1423=)
NM_001372044.2(SHANK3):c.4271C>T (p.Pro1424Leu)
NM_001372044.2(SHANK3):c.4274_4275del (p.Glu1425fs) rs2146832853
NM_001372044.2(SHANK3):c.4284C>T (p.Ala1428=)
NM_001372044.2(SHANK3):c.4290_4291del (p.Val1432fs) rs2083293616
NM_001372044.2(SHANK3):c.4311_4312del (p.Arg1438fs) rs1603447144
NM_001372044.2(SHANK3):c.4313G>A (p.Arg1438His)
NM_001372044.2(SHANK3):c.431A>G (p.Asp144Gly) rs1005062028
NM_001372044.2(SHANK3):c.432T>C (p.Asp144=)
NM_001372044.2(SHANK3):c.4334_4335del (p.Leu1445fs) rs1064793514
NM_001372044.2(SHANK3):c.4341del (p.Thr1448fs)
NM_001372044.2(SHANK3):c.4362_4363del (p.Ser1455fs)
NM_001372044.2(SHANK3):c.4396G>T (p.Glu1466Ter)
NM_001372044.2(SHANK3):c.4401C>G (p.Leu1467=) rs906873431
NM_001372044.2(SHANK3):c.4401_4404del (p.Asp1469fs) rs2146833064
NM_001372044.2(SHANK3):c.4428C>T (p.Asp1476=)
NM_001372044.2(SHANK3):c.4438T>C (p.Phe1480Leu) rs1444005320
NM_001372044.2(SHANK3):c.4454del (p.Pro1485fs) rs1131691727
NM_001372044.2(SHANK3):c.4477C>T (p.Leu1493Phe)
NM_001372044.2(SHANK3):c.4502C>T (p.Pro1501Leu)
NM_001372044.2(SHANK3):c.4508C>T (p.Thr1503Ile) rs767385272
NM_001372044.2(SHANK3):c.4556_4559dup (p.Gln1520fs) rs2083297043
NM_001372044.2(SHANK3):c.4557C>T (p.Ala1519=)
NM_001372044.2(SHANK3):c.4589C>T (p.Ala1530Val)
NM_001372044.2(SHANK3):c.4613dup (p.Arg1539fs)
NM_001372044.2(SHANK3):c.4627C>T (p.Gln1543Ter) rs1064795759
NM_001372044.2(SHANK3):c.4634G>A (p.Arg1545Lys) rs2146833546
NM_001372044.2(SHANK3):c.4647G>A (p.Trp1549Ter) rs2146833570
NM_001372044.2(SHANK3):c.4656C>T (p.Pro1552=)
NM_001372044.2(SHANK3):c.4658T>C (p.Val1553Ala) rs552048572
NM_001372044.2(SHANK3):c.4662G>A (p.Glu1554=)
NM_001372044.2(SHANK3):c.4666C>T (p.Arg1556Trp)
NM_001372044.2(SHANK3):c.4690G>T (p.Asp1564Tyr) rs373588048
NM_001372044.2(SHANK3):c.4691A>G (p.Asp1564Gly)
NM_001372044.2(SHANK3):c.4696C>T (p.Pro1566Ser)
NM_001372044.2(SHANK3):c.4703_4704del (p.Val1568fs)
NM_001372044.2(SHANK3):c.4709G>C (p.Ser1570Thr)
NM_001372044.2(SHANK3):c.4717A>G (p.Ser1573Gly)
NM_001372044.2(SHANK3):c.4719C>T (p.Ser1573=)
NM_001372044.2(SHANK3):c.4730A>G (p.Gln1577Arg)
NM_001372044.2(SHANK3):c.4732C>T (p.Gln1578Ter) rs2146833747
NM_001372044.2(SHANK3):c.473C>T (p.Thr158Met)
NM_001372044.2(SHANK3):c.4740_4746dup (p.Thr1583fs) rs2083299114
NM_001372044.2(SHANK3):c.4747_4748del (p.Thr1583fs) rs1555910299
NM_001372044.2(SHANK3):c.4750C>T (p.Arg1584Cys)
NM_001372044.2(SHANK3):c.4756C>T (p.Leu1586=) rs2146833802
NM_001372044.2(SHANK3):c.475C>T (p.Pro159Ser)
NM_001372044.2(SHANK3):c.4765dup (p.Glu1589fs) rs1569116595
NM_001372044.2(SHANK3):c.4773TGG[1] (p.Gly1593del) rs766299545
NM_001372044.2(SHANK3):c.477C>T (p.Pro159=)
NM_001372044.2(SHANK3):c.4784del (p.Gly1595fs) rs1555910304
NM_001372044.2(SHANK3):c.4790del (p.Leu1597fs) rs886041430
NM_001372044.2(SHANK3):c.4795-59C>T rs181332679
NM_001372044.2(SHANK3):c.4813C>T (p.Pro1605Ser) rs1569116634
NM_001372044.2(SHANK3):c.4820C>A (p.Ala1607Glu)
NM_001372044.2(SHANK3):c.4835_4839dup (p.Leu1615fs) rs2146843340
NM_001372044.2(SHANK3):c.4836dup (p.Ser1613fs) rs1555910895
NM_001372044.2(SHANK3):c.4853T>C (p.Leu1618Pro)
NM_001372044.2(SHANK3):c.4874_4878dup (p.Pro1627fs) rs1603447373
NM_001372044.2(SHANK3):c.4878_4879insGCACC (p.Pro1627fs) rs2083358123
NM_001372044.2(SHANK3):c.4889C>T (p.Pro1630Leu) rs1329146990
NM_001372044.2(SHANK3):c.4901C>T (p.Ala1634Val)
NM_001372044.2(SHANK3):c.4902C>A (p.Ala1634=)
NM_001372044.2(SHANK3):c.4904C>G (p.Ser1635Trp)
NM_001372044.2(SHANK3):c.4904C>T (p.Ser1635Leu)
NM_001372044.2(SHANK3):c.4907dup (p.Tyr1636Ter)
NM_001372044.2(SHANK3):c.4908C>G (p.Tyr1636Ter)
NM_001372044.2(SHANK3):c.4910C>T (p.Ser1637Leu) rs1064796872
NM_001372044.2(SHANK3):c.494+2T>G rs1603445997
NM_001372044.2(SHANK3):c.4944A>T (p.Arg1648Ser)
NM_001372044.2(SHANK3):c.4952C>G (p.Pro1651Arg)
NM_001372044.2(SHANK3):c.496C>T (p.Arg166Ter) rs1569097392
NM_001372044.2(SHANK3):c.4978G>T (p.Glu1660Ter) rs1603447380
NM_001372044.2(SHANK3):c.4983G>C (p.Arg1661=)
NM_001372044.2(SHANK3):c.4987G>T (p.Glu1663Ter)
NM_001372044.2(SHANK3):c.4990G>A (p.Gly1664Arg)
NM_001372044.2(SHANK3):c.5003G>A (p.Gly1668Asp)
NM_001372044.2(SHANK3):c.500A>G (p.Tyr167Cys) rs2146768702
NM_001372044.2(SHANK3):c.5011_5012del (p.Gly1671fs) rs1385882031
NM_001372044.2(SHANK3):c.5016A>C (p.Ala1672=)
NM_001372044.2(SHANK3):c.503A>G (p.Lys168Arg)
NM_001372044.2(SHANK3):c.5043dup (p.Thr1682fs)
NM_001372044.2(SHANK3):c.5046dup (p.Ile1683fs) rs1603447381
NM_001372044.2(SHANK3):c.5057C>G (p.Ser1686Trp) rs2083359701
NM_001372044.2(SHANK3):c.506G>A (p.Arg169Gln) rs2082921353
NM_001372044.2(SHANK3):c.5074_5077dup (p.His1693fs)
NM_001372044.2(SHANK3):c.5086A>T (p.Lys1696Ter) rs1085307954
NM_001372044.2(SHANK3):c.5097C>T (p.Arg1699=)
NM_001372044.2(SHANK3):c.5107C>A (p.Arg1703Ser) rs2083360139
NM_001372044.2(SHANK3):c.511G>C (p.Val171Leu)
NM_001372044.2(SHANK3):c.5130C>T (p.Arg1710=)
NM_001372044.2(SHANK3):c.5131_5146dup (p.Pro1716fs) rs886041467
NM_001372044.2(SHANK3):c.5135C>T (p.Pro1712Leu)
NM_001372044.2(SHANK3):c.5136C>G (p.Pro1712=)
NM_001372044.2(SHANK3):c.5153C>T (p.Pro1718Leu)
NM_001372044.2(SHANK3):c.5166dup (p.Gly1723fs)
NM_001372044.2(SHANK3):c.5170CCCGGC[1] (p.1724PG[1])
NM_001372044.2(SHANK3):c.5170CCCGGC[3] (p.1724PG[3]) rs1054399689
NM_001372044.2(SHANK3):c.5176C>T (p.Pro1726Ser)
NM_001372044.2(SHANK3):c.5182G>A (p.Ala1728Thr)
NM_001372044.2(SHANK3):c.5184C>T (p.Ala1728=)
NM_001372044.2(SHANK3):c.5188G>A (p.Gly1730Ser)
NM_001372044.2(SHANK3):c.5197C>T (p.Arg1733Ter) rs2083361357
NM_001372044.2(SHANK3):c.5209C>G (p.Gln1737Glu) rs1294272918
NM_001372044.2(SHANK3):c.5209C>T (p.Gln1737Ter) rs1294272918
NM_001372044.2(SHANK3):c.521A>G (p.Gln174Arg) rs2146768744
NM_001372044.2(SHANK3):c.5224C>G (p.Leu1742Val) rs1036266314
NM_001372044.2(SHANK3):c.5225T>C (p.Leu1742Pro) rs2146843947
NM_001372044.2(SHANK3):c.5227T>C (p.Trp1743Arg) rs2083361660
NM_001372044.2(SHANK3):c.5239G>T (p.Asp1747Tyr) rs1131691485
NM_001372044.2(SHANK3):c.5251T>C (p.Trp1751Arg) rs1131691469
NM_001372044.2(SHANK3):c.5252G>A (p.Trp1751Ter) rs1603447383
NM_001372044.2(SHANK3):c.5253G>A (p.Trp1751Ter)
NM_001372044.2(SHANK3):c.525C>G (p.Asn175Lys)
NM_001372044.2(SHANK3):c.5281C>A (p.Arg1761Ser) rs2146844008
NM_001372044.2(SHANK3):c.5287C>T (p.Arg1763Cys)
NM_001372044.2(SHANK3):c.5306T>G (p.Ile1769Arg)
NM_001372044.2(SHANK3):c.5307_5310del (p.Ile1769fs) rs2083362101
NM_001372044.2(SHANK3):c.5311G>A (p.Gly1771Ser) rs1555910944
NM_001372044.2(SHANK3):c.5324_5334del (p.Pro1775fs)
NM_001372044.2(SHANK3):c.5325C>T (p.Pro1775=)
NM_001372044.2(SHANK3):c.5346C>T (p.Phe1782=)
NM_001372044.2(SHANK3):c.5354T>C (p.Leu1785Pro) rs1555910948
NM_001372044.2(SHANK3):c.5362dup (p.Thr1788fs) rs2083362624
NM_001372044.2(SHANK3):c.5372G>A (p.Gly1791Asp) rs2146844132
NM_001372044.2(SHANK3):c.5396C>G (p.Ala1799Gly)
NM_001372044.2(SHANK3):c.5400C>G (p.Leu1800=)
NM_001372044.2(SHANK3):c.5417G>A (p.Ser1806Asn)
NM_001372044.2(SHANK3):c.542A>C (p.Gln181Pro) rs1555905307
NM_001372044.2(SHANK3):c.567-190C>T rs80149769
NM_001372044.2(SHANK3):c.567-3C>T rs867118013
NM_001372044.2(SHANK3):c.574A>T (p.Lys192Ter) rs2082934908
NM_001372044.2(SHANK3):c.575A>G (p.Lys192Arg)
NM_001372044.2(SHANK3):c.592G>A (p.Val198Ile)
NM_001372044.2(SHANK3):c.613A>C (p.Lys205Gln)
NM_001372044.2(SHANK3):c.616G>T (p.Val206Leu)
NM_001372044.2(SHANK3):c.622C>T (p.Arg208Cys)
NM_001372044.2(SHANK3):c.623G>A (p.Arg208His)
NM_001372044.2(SHANK3):c.646C>G (p.Pro216Ala) rs397514705
NM_001372044.2(SHANK3):c.675+38C>A rs115592847
NM_001372044.2(SHANK3):c.677G>A (p.Cys226Tyr)
NM_001372044.2(SHANK3):c.682_683del (p.Leu228fs)
NM_001372044.2(SHANK3):c.714G>A (p.Thr238=)
NM_001372044.2(SHANK3):c.756_757del (p.Phe253fs)
NM_001372044.2(SHANK3):c.781G>A (p.Ala261Thr)
NM_001372044.2(SHANK3):c.783C>T (p.Ala261=)
NM_001372044.2(SHANK3):c.799C>T (p.Arg267Cys)
NM_001372044.2(SHANK3):c.800G>A (p.Arg267His)
NM_001372044.2(SHANK3):c.813G>A (p.Ala271=)
NM_001372044.2(SHANK3):c.869G>T (p.Arg290Leu) rs775487427
NM_001372044.2(SHANK3):c.870C>T (p.Arg290=)
NM_001372044.2(SHANK3):c.871G>A (p.Gly291Ser)
NM_001372044.2(SHANK3):c.878C>T (p.Thr293Ile) rs2146772569
NM_001372044.2(SHANK3):c.887A>G (p.Tyr296Cys) rs2082939036
NM_001372044.2(SHANK3):c.895G>A (p.Ala299Thr)
NM_001372044.2(SHANK3):c.8T>C (p.Leu3Pro)
NM_001372044.2(SHANK3):c.901G>C (p.Gly301Arg)
NM_001372044.2(SHANK3):c.938A>G (p.His313Arg)
NM_001372044.2(SHANK3):c.940G>A (p.Asp314Asn)
NM_001372044.2(SHANK3):c.957del (p.Ile320fs) rs2146772777
NM_001372044.2(SHANK3):c.973G>T (p.Gly325Cys) rs1131691463
NM_001372044.2(SHANK3):c.974G>T (p.Gly325Val)
NM_001372044.2(SHANK3):c.991C>G (p.Gln331Glu)
NM_001372044.2(SHANK3):c.993G>T (p.Gln331His) rs1131691464
NM_001372044.2(SHANK3):c.995+3G>A
NM_001372044.2(SHANK3):c.996-5C>T
NM_001372044.2:c.288+1G>A
NM_033517.1(SHANK3):c.2613C>G (p.Tyr871Ter) rs1001153999
NM_033517.1(SHANK3):c.3379delinsCC (p.Ser1127fs) rs1555910140
NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs) rs1555910143
NM_033517.1(SHANK3):c.3637dup (p.His1213fs) rs1555910162
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772
NM_033517.1(SHANK3):c.48G>A (p.Pro16=)
NM_033517.1(SHANK3):c.59A>G (p.Gln20Arg)
NM_033517.1:c.37G>C rs1196868406
NM_033517.1:c.4338G>C rs2146833382
NM_033517.1:c.891C>T

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