ClinVar Miner

List of variants in gene SHANK3 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.4259C>T (p.Pro1420Leu) rs73174429 0.00046
NM_001372044.2(SHANK3):c.4441C>G (p.Leu1481Val) rs201973139 0.00010
NM_001372044.2(SHANK3):c.2479G>A (p.Ala827Thr) rs749080314 0.00004
NM_001372044.2(SHANK3):c.4924G>A (p.Gly1642Ser) rs1050241731 0.00004
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.2678A>C (p.Gln893Pro) rs1020480936 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.1175A>G (p.Gln392Arg) rs765089490 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.1793A>G (p.Asp598Gly) rs1456892761 0.00001
NM_001372044.2(SHANK3):c.1832G>A (p.Arg611Gln) rs767437118 0.00001
NM_001372044.2(SHANK3):c.2239G>A (p.Gly747Arg) rs763010846 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.350C>T (p.Ala117Val) rs1461739965 0.00001
NM_001372044.2(SHANK3):c.3527C>T (p.Pro1176Leu) rs768527232 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.4520C>T (p.Pro1507Leu) rs752413653 0.00001
NM_001372044.2(SHANK3):c.4657G>A (p.Val1553Met) rs530777182 0.00001
NM_001372044.2(SHANK3):c.5071A>G (p.Ile1691Val) rs991616356 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
NM_001372044.2(SHANK3):c.1037T>G (p.Phe346Cys)
NM_001372044.2(SHANK3):c.1052T>G (p.Met351Arg)
NM_001372044.2(SHANK3):c.1087C>T (p.His363Tyr) rs2146773272
NM_001372044.2(SHANK3):c.1112+1G>A rs1555905767
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.125G>C (p.Gly42Ala)
NM_001372044.2(SHANK3):c.1390C>T (p.Pro464Ser) rs2146794712
NM_001372044.2(SHANK3):c.1413C>T (p.Leu471=)
NM_001372044.2(SHANK3):c.1511C>T (p.Ala504Val)
NM_001372044.2(SHANK3):c.1598C>T (p.Pro533Leu) rs1555907951
NM_001372044.2(SHANK3):c.1613C>T (p.Pro538Leu) rs2146799027
NM_001372044.2(SHANK3):c.1733T>C (p.Ile578Thr) rs1333345587
NM_001372044.2(SHANK3):c.1794C>A (p.Asp598Glu) rs2146800699
NM_001372044.2(SHANK3):c.1827C>A (p.Asp609Glu)
NM_001372044.2(SHANK3):c.2149G>A (p.Gly717Arg) rs1569108417
NM_001372044.2(SHANK3):c.2220-23C>T
NM_001372044.2(SHANK3):c.2236G>A (p.Asp746Asn)
NM_001372044.2(SHANK3):c.2294C>T (p.Thr765Ile) rs2146810295
NM_001372044.2(SHANK3):c.2325-8C>A
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.2459C>A (p.Thr820Asn)
NM_001372044.2(SHANK3):c.2507A>G (p.Gln836Arg) rs2083239098
NM_001372044.2(SHANK3):c.2545C>T (p.Arg849Trp)
NM_001372044.2(SHANK3):c.2588A>G (p.Lys863Arg)
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.2728C>T (p.Pro910Ser)
NM_001372044.2(SHANK3):c.2842C>G (p.Pro948Ala)
NM_001372044.2(SHANK3):c.2849C>G (p.Ala950Gly) rs1326735946
NM_001372044.2(SHANK3):c.2877G>C (p.Glu959Asp)
NM_001372044.2(SHANK3):c.2891C>G (p.Ala964Gly)
NM_001372044.2(SHANK3):c.2897C>A (p.Ser966Tyr)
NM_001372044.2(SHANK3):c.2957_2971del (p.Ala986_Pro990del) rs1048276757
NM_001372044.2(SHANK3):c.2971_2979dup (p.Pro993_Lys994insGluArgPro)
NM_001372044.2(SHANK3):c.2986C>T (p.Arg996Trp) rs2083275877
NM_001372044.2(SHANK3):c.3001G>A (p.Gly1001Ser)
NM_001372044.2(SHANK3):c.3004C>T (p.Pro1002Ser)
NM_001372044.2(SHANK3):c.3021C>A (p.Ala1007=) rs1367333501
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.3173G>C (p.Arg1058Pro) rs1000364280
NM_001372044.2(SHANK3):c.3202C>A (p.Arg1068Ser) rs2083278623
NM_001372044.2(SHANK3):c.3226G>A (p.Ala1076Thr) rs1555910078
NM_001372044.2(SHANK3):c.3277C>T (p.Arg1093Trp)
NM_001372044.2(SHANK3):c.3322G>A (p.Gly1108Arg) rs1555910097
NM_001372044.2(SHANK3):c.334C>T (p.Gln112Ter) rs547796852
NM_001372044.2(SHANK3):c.3374C>T (p.Ser1125Phe) rs1603447124
NM_001372044.2(SHANK3):c.3390G>T (p.Glu1130Asp)
NM_001372044.2(SHANK3):c.3398T>C (p.Leu1133Pro) rs2146830640
NM_001372044.2(SHANK3):c.3408C>G (p.Gly1136=) rs748205250
NM_001372044.2(SHANK3):c.3443C>T (p.Pro1148Leu)
NM_001372044.2(SHANK3):c.3460C>T (p.Pro1154Ser)
NM_001372044.2(SHANK3):c.3526C>G (p.Pro1176Ala) rs1385920913
NM_001372044.2(SHANK3):c.3561G>T (p.Leu1187=) rs2083283470
NM_001372044.2(SHANK3):c.3566C>T (p.Ala1189Val)
NM_001372044.2(SHANK3):c.356A>G (p.Asn119Ser)
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.3626C>A (p.Pro1209His)
NM_001372044.2(SHANK3):c.3626C>G (p.Pro1209Arg)
NM_001372044.2(SHANK3):c.3636C>G (p.Asp1212Glu) rs2146831187
NM_001372044.2(SHANK3):c.3646C>G (p.Pro1216Ala)
NM_001372044.2(SHANK3):c.3661G>A (p.Val1221Ile) rs2146831275
NM_001372044.2(SHANK3):c.3712C>T (p.Pro1238Ser)
NM_001372044.2(SHANK3):c.3793G>A (p.Asp1265Asn)
NM_001372044.2(SHANK3):c.3880C>G (p.Gln1294Glu)
NM_001372044.2(SHANK3):c.3916C>G (p.Arg1306Gly) rs765080418
NM_001372044.2(SHANK3):c.3928C>T (p.Pro1310Ser)
NM_001372044.2(SHANK3):c.3950T>G (p.Met1317Arg)
NM_001372044.2(SHANK3):c.3991G>T (p.Ala1331Ser)
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.4061T>G (p.Leu1354Arg)
NM_001372044.2(SHANK3):c.4081C>T (p.Pro1361Ser) rs1219979283
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.4169A>C (p.Asn1390Thr)
NM_001372044.2(SHANK3):c.4198G>A (p.Gly1400Ser)
NM_001372044.2(SHANK3):c.4224G>T (p.Val1408=)
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.4268C>G (p.Ala1423Gly) rs756226608
NM_001372044.2(SHANK3):c.4438T>C (p.Phe1480Leu) rs1444005320
NM_001372044.2(SHANK3):c.4508C>T (p.Thr1503Ile) rs767385272
NM_001372044.2(SHANK3):c.4634G>A (p.Arg1545Lys) rs2146833546
NM_001372044.2(SHANK3):c.4658T>C (p.Val1553Ala) rs552048572
NM_001372044.2(SHANK3):c.4709G>C (p.Ser1570Thr)
NM_001372044.2(SHANK3):c.4717A>G (p.Ser1573Gly)
NM_001372044.2(SHANK3):c.473C>T (p.Thr158Met)
NM_001372044.2(SHANK3):c.4750C>T (p.Arg1584Cys)
NM_001372044.2(SHANK3):c.4813C>T (p.Pro1605Ser) rs1569116634
NM_001372044.2(SHANK3):c.4901C>T (p.Ala1634Val)
NM_001372044.2(SHANK3):c.4904C>T (p.Ser1635Leu)
NM_001372044.2(SHANK3):c.4910C>T (p.Ser1637Leu) rs1064796872
NM_001372044.2(SHANK3):c.4990G>A (p.Gly1664Arg)
NM_001372044.2(SHANK3):c.500A>G (p.Tyr167Cys) rs2146768702
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.511G>C (p.Val171Leu)
NM_001372044.2(SHANK3):c.5182G>A (p.Ala1728Thr)
NM_001372044.2(SHANK3):c.5209C>G (p.Gln1737Glu) 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.5287C>T (p.Arg1763Cys)
NM_001372044.2(SHANK3):c.5372G>A (p.Gly1791Asp) rs2146844132
NM_001372044.2(SHANK3):c.5396C>G (p.Ala1799Gly)
NM_001372044.2(SHANK3):c.613A>C (p.Lys205Gln)
NM_001372044.2(SHANK3):c.622C>T (p.Arg208Cys)
NM_001372044.2(SHANK3):c.677G>A (p.Cys226Tyr)
NM_001372044.2(SHANK3):c.682_683del (p.Leu228fs)
NM_001372044.2(SHANK3):c.799C>T (p.Arg267Cys)
NM_001372044.2(SHANK3):c.869G>T (p.Arg290Leu) rs775487427
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.8T>C (p.Leu3Pro)
NM_001372044.2(SHANK3):c.901G>C (p.Gly301Arg)
NM_001372044.2(SHANK3):c.940G>A (p.Asp314Asn)
NM_033517.1:c.4338G>C rs2146833382

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