ClinVar Miner

List of variants in gene SHANK3 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 249
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HGVS dbSNP gnomAD frequency
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.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.2541-267C>T rs114739072 0.00609
NM_001372044.2(SHANK3):c.2535G>A (p.Pro845=) rs117066889 0.00587
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.2219+106C>T rs147738095 0.00454
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.885C>G (p.Leu295=) rs187348640 0.00405
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.1191-66G>A rs555709852 0.00235
NM_001372044.2(SHANK3):c.291-18G>A rs779140644 0.00228
NM_001372044.2(SHANK3):c.4104C>T (p.Ser1368=) rs201793890 0.00221
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.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.5177C>T (p.Pro1726Leu) rs932743656 0.00099
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.996-7C>G rs371172305 0.00088
NM_001372044.2(SHANK3):c.2300+10G>A rs202200715 0.00087
NM_001372044.2(SHANK3):c.4118G>A (p.Arg1373Lys) rs201483867 0.00081
NM_001372044.2(SHANK3):c.4223T>G (p.Val1408Gly) rs200087210 0.00064
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.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.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.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.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.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.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.5094G>T (p.Val1698=) rs972006253 0.00007
NM_001372044.2(SHANK3):c.827+30G>A rs765779866 0.00007
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.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.2745G>A (p.Pro915=) rs1453397190 0.00004
NM_001372044.2(SHANK3):c.4083A>G (p.Pro1361=) rs371543035 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.3918C>G (p.Arg1306=) rs1415046695 0.00003
NM_001372044.2(SHANK3):c.5160C>T (p.Pro1720=) rs751652089 0.00003
NM_001372044.2(SHANK3):c.1112+4C>T rs376588105 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.3985C>T (p.Pro1329Ser) rs748123356 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.1251T>C (p.Asp417=) rs1377234347 0.00001
NM_001372044.2(SHANK3):c.1689-13C>T rs547613640 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.3353A>C (p.Asp1118Ala) rs1064793828 0.00001
NM_001372044.2(SHANK3):c.3487C>T (p.Pro1163Ser) rs565975948 0.00001
NM_001372044.2(SHANK3):c.3675C>T (p.Asp1225=) rs747936370 0.00001
NM_001372044.2(SHANK3):c.3784T>A (p.Ser1262Thr) rs946579020 0.00001
NM_001372044.2(SHANK3):c.4006G>A (p.Gly1336Ser) rs752227380 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.4600G>A (p.Gly1534Arg) rs1440735830 0.00001
NM_001372044.2(SHANK3):c.4749G>A (p.Thr1583=) rs751058928 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
NC_000022.11:g.50697558T>C
NM_001372044.2(SHANK3):c.*29T>G
NM_001372044.2(SHANK3):c.*50del
NM_001372044.2(SHANK3):c.1052T>C (p.Met351Thr)
NM_001372044.2(SHANK3):c.1054G>A (p.Gly352Arg) rs796878782
NM_001372044.2(SHANK3):c.1056G>T (p.Gly352=)
NM_001372044.2(SHANK3):c.1112+5G>T rs370396444
NM_001372044.2(SHANK3):c.1161C>A (p.Arg387=) rs2124372227
NM_001372044.2(SHANK3):c.1188+8G>A
NM_001372044.2(SHANK3):c.1191-6C>T
NM_001372044.2(SHANK3):c.1353T>C (p.Asp451=) rs1196417230
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.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.1594G>A (p.Ala532Thr) rs1053116057
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.16GCC[10] (p.Ala13_Pro14insAlaAla)
NM_001372044.2(SHANK3):c.16GCC[7] (p.Ala13del)
NM_001372044.2(SHANK3):c.1776G>A (p.Thr592=)
NM_001372044.2(SHANK3):c.2187C>T (p.Gly729=)
NM_001372044.2(SHANK3):c.2214T>C (p.Ser738=) rs2146808552
NM_001372044.2(SHANK3):c.2219+162G>T rs148828263
NM_001372044.2(SHANK3):c.2220-134C>T
NM_001372044.2(SHANK3):c.2220-83G>A
NM_001372044.2(SHANK3):c.2220-8_2220-6del rs1603446766
NM_001372044.2(SHANK3):c.2289A>C (p.Thr763=)
NM_001372044.2(SHANK3):c.2301-5C>T rs181480774
NM_001372044.2(SHANK3):c.2310C>T (p.Ser770=)
NM_001372044.2(SHANK3):c.2368G>A (p.Asp790Asn) rs1555909545
NM_001372044.2(SHANK3):c.2416G>A (p.Ala806Thr)
NM_001372044.2(SHANK3):c.2421C>T (p.Asp807=)
NM_001372044.2(SHANK3):c.2540+50_2540+51insTATGG rs759259990
NM_001372044.2(SHANK3):c.2545C>G (p.Arg849Gly) rs766205731
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.2838C>T (p.Tyr946=)
NM_001372044.2(SHANK3):c.2847C>T (p.Gly949=)
NM_001372044.2(SHANK3):c.2958G>C (p.Ala986=)
NM_001372044.2(SHANK3):c.2967G>A (p.Pro989=)
NM_001372044.2(SHANK3):c.3012C>T (p.Ser1004=)
NM_001372044.2(SHANK3):c.3033C>G (p.Ala1011=)
NM_001372044.2(SHANK3):c.312C>A (p.Ala104=)
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser) rs530255181
NM_001372044.2(SHANK3):c.3153C>A (p.Pro1051=) rs1183722632
NM_001372044.2(SHANK3):c.315G>A (p.Ala105=)
NM_001372044.2(SHANK3):c.318C>G (p.Pro106=)
NM_001372044.2(SHANK3):c.3195C>A (p.Arg1065=) rs1569115121
NM_001372044.2(SHANK3):c.3216C>A (p.Leu1072=)
NM_001372044.2(SHANK3):c.3257G>C (p.Gly1086Ala) rs767058690
NM_001372044.2(SHANK3):c.3279G>C (p.Arg1093=) rs2146830361
NM_001372044.2(SHANK3):c.3297C>T (p.Arg1099=)
NM_001372044.2(SHANK3):c.3304A>G (p.Thr1102Ala)
NM_001372044.2(SHANK3):c.330C>T (p.Ala110=)
NM_001372044.2(SHANK3):c.3327C>A (p.Ala1109=)
NM_001372044.2(SHANK3):c.3339C>T (p.Ser1113=)
NM_001372044.2(SHANK3):c.3345C>T (p.Pro1115=)
NM_001372044.2(SHANK3):c.335A>C (p.Gln112Pro)
NM_001372044.2(SHANK3):c.3360A>G (p.Pro1120=)
NM_001372044.2(SHANK3):c.3381C>T (p.Ser1127=)
NM_001372044.2(SHANK3):c.3387C>T (p.Asp1129=)
NM_001372044.2(SHANK3):c.3401G>A (p.Gly1134Glu)
NM_001372044.2(SHANK3):c.351C>T (p.Ala117=) rs974149501
NM_001372044.2(SHANK3):c.3648C>T (p.Pro1216=)
NM_001372044.2(SHANK3):c.3690C>T (p.Ser1230=)
NM_001372044.2(SHANK3):c.3765C>A (p.Val1255=)
NM_001372044.2(SHANK3):c.3766C>A (p.Pro1256Thr) rs200188413
NM_001372044.2(SHANK3):c.3832C>T (p.Leu1278=)
NM_001372044.2(SHANK3):c.3867C>T (p.Ala1289=)
NM_001372044.2(SHANK3):c.3870C>T (p.Thr1290=)
NM_001372044.2(SHANK3):c.3899G>A (p.Gly1300Glu)
NM_001372044.2(SHANK3):c.3903G>T (p.Gly1301=) rs772120494
NM_001372044.2(SHANK3):c.3912G>A (p.Glu1304=) rs1264964864
NM_001372044.2(SHANK3):c.3941C>T (p.Pro1314Leu) rs753314270
NM_001372044.2(SHANK3):c.399G>T (p.Pro133=)
NM_001372044.2(SHANK3):c.4019A>T (p.Asp1340Val) rs374885308
NM_001372044.2(SHANK3):c.4020C>T (p.Asp1340=)
NM_001372044.2(SHANK3):c.4077C>T (p.Asn1359=)
NM_001372044.2(SHANK3):c.4088C>T (p.Ala1363Val)
NM_001372044.2(SHANK3):c.4173G>A (p.Gly1391=)
NM_001372044.2(SHANK3):c.4181T>G (p.Leu1394Arg)
NM_001372044.2(SHANK3):c.4269C>T (p.Ala1423=)
NM_001372044.2(SHANK3):c.4284C>T (p.Ala1428=)
NM_001372044.2(SHANK3):c.432T>C (p.Asp144=)
NM_001372044.2(SHANK3):c.4401C>G (p.Leu1467=) rs906873431
NM_001372044.2(SHANK3):c.4428C>T (p.Asp1476=)
NM_001372044.2(SHANK3):c.4557C>T (p.Ala1519=)
NM_001372044.2(SHANK3):c.4656C>T (p.Pro1552=)
NM_001372044.2(SHANK3):c.4662G>A (p.Glu1554=)
NM_001372044.2(SHANK3):c.4719C>T (p.Ser1573=)
NM_001372044.2(SHANK3):c.4773TGG[1] (p.Gly1593del) rs766299545
NM_001372044.2(SHANK3):c.477C>T (p.Pro159=)
NM_001372044.2(SHANK3):c.4795-59C>T rs181332679
NM_001372044.2(SHANK3):c.4902C>A (p.Ala1634=)
NM_001372044.2(SHANK3):c.4983G>C (p.Arg1661=)
NM_001372044.2(SHANK3):c.5016A>C (p.Ala1672=)
NM_001372044.2(SHANK3):c.5097C>T (p.Arg1699=)
NM_001372044.2(SHANK3):c.5135C>T (p.Pro1712Leu)
NM_001372044.2(SHANK3):c.5136C>G (p.Pro1712=)
NM_001372044.2(SHANK3):c.5170CCCGGC[3] (p.1724PG[3]) rs1054399689
NM_001372044.2(SHANK3):c.5184C>T (p.Ala1728=)
NM_001372044.2(SHANK3):c.5188G>A (p.Gly1730Ser)
NM_001372044.2(SHANK3):c.5325C>T (p.Pro1775=)
NM_001372044.2(SHANK3):c.5346C>T (p.Phe1782=)
NM_001372044.2(SHANK3):c.5400C>G (p.Leu1800=)
NM_001372044.2(SHANK3):c.567-190C>T rs80149769
NM_001372044.2(SHANK3):c.675+38C>A rs115592847
NM_001372044.2(SHANK3):c.714G>A (p.Thr238=)
NM_001372044.2(SHANK3):c.783C>T (p.Ala261=)
NM_001372044.2(SHANK3):c.813G>A (p.Ala271=)
NM_001372044.2(SHANK3):c.870C>T (p.Arg290=)
NM_001372044.2(SHANK3):c.996-5C>T
NM_033517.1(SHANK3):c.48G>A (p.Pro16=)
NM_033517.1:c.37G>C rs1196868406

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