ClinVar Miner

List of variants in gene SHANK3 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.1606C>G (p.Arg536Gly) rs1043729674 0.02423
NM_001372044.2(SHANK3):c.3762G>A (p.Lys1254=) rs145196448 0.00666
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.1470C>T (p.Ala490=) rs116756129 0.00455
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.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.5185C>A (p.Pro1729Thr) rs749130556 0.00319
NM_001372044.2(SHANK3):c.4104C>T (p.Ser1368=) rs201793890 0.00221
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.3114G>C (p.Ala1038=) rs772152761 0.00113
NM_001372044.2(SHANK3):c.1635C>T (p.Ala545=) rs780922475 0.00111
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.3742G>A (p.Ala1248Thr) rs139686326 0.00053
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_001372044.2(SHANK3):c.2799C>T (p.Gly933=) rs907713706 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.5043C>G (p.Pro1681=) rs958460783 0.00020
NM_001372044.2(SHANK3):c.4013C>T (p.Pro1338Leu) rs757572910 0.00017
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.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.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.5160C>T (p.Pro1720=) rs751652089 0.00003
NM_001372044.2(SHANK3):c.3547C>T (p.Leu1183=) rs764710574 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.1312G>A (p.Gly438Ser) rs368073391 0.00001
NM_001372044.2(SHANK3):c.1384G>A (p.Ala462Thr) rs924786980 0.00001
NM_001372044.2(SHANK3):c.2455+1G>A rs1396379503 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.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
GRCh37/hg19 22q13.33(chr22:51153345-51162581)x1
GRCh37/hg19 22q13.33(chr22:51158612-51160865)x1
NC_000022.11:g.50674689G>A
NC_000022.11:g.50697558T>C
NM_001372044.2(SHANK3):c.1052T>G (p.Met351Arg)
NM_001372044.2(SHANK3):c.113G>A (p.Ser38Asn)
NM_001372044.2(SHANK3):c.1178C>T (p.Thr393Ile)
NM_001372044.2(SHANK3):c.125G>C (p.Gly42Ala)
NM_001372044.2(SHANK3):c.1471G>A (p.Asp491Asn)
NM_001372044.2(SHANK3):c.1482C>G (p.Ser494Arg)
NM_001372044.2(SHANK3):c.1512C>T (p.Ala504=)
NM_001372044.2(SHANK3):c.1530-280dup rs745950788
NM_001372044.2(SHANK3):c.1593dup (p.Ala532fs) rs1064797289
NM_001372044.2(SHANK3):c.1598C>T (p.Pro533Leu) rs1555907951
NM_001372044.2(SHANK3):c.1643G>C (p.Gly548Ala)
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.16GCC[9] (p.Ala13_Pro14insAla)
NM_001372044.2(SHANK3):c.1721del (p.Lys574fs) rs1064797290
NM_001372044.2(SHANK3):c.1797C>T (p.Cys599=)
NM_001372044.2(SHANK3):c.2149G>A (p.Gly717Arg) rs1569108417
NM_001372044.2(SHANK3):c.2214T>C (p.Ser738=) rs2146808552
NM_001372044.2(SHANK3):c.2220-134C>T
NM_001372044.2(SHANK3):c.2220-158G>A
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.2246G>A (p.Arg749Gln)
NM_001372044.2(SHANK3):c.2268C>G (p.Pro756=) rs61731160
NM_001372044.2(SHANK3):c.2325-8C>A
NM_001372044.2(SHANK3):c.2357G>C (p.Gly786Ala)
NM_001372044.2(SHANK3):c.2416G>A (p.Ala806Thr)
NM_001372044.2(SHANK3):c.2418A>G (p.Ala806=)
NM_001372044.2(SHANK3):c.2421C>T (p.Asp807=)
NM_001372044.2(SHANK3):c.2455+1G>C
NM_001372044.2(SHANK3):c.2541-1G>C rs2083271355
NM_001372044.2(SHANK3):c.2545C>T (p.Arg849Trp)
NM_001372044.2(SHANK3):c.2648G>C (p.Arg883Pro) rs2083272071
NM_001372044.2(SHANK3):c.2664C>G (p.Ile888Met) rs1603447099
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.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>A (p.Tyr946Ter) rs1001153999
NM_001372044.2(SHANK3):c.2849C>T (p.Ala950Val)
NM_001372044.2(SHANK3):c.2958G>C (p.Ala986=)
NM_001372044.2(SHANK3):c.2962_2996del (p.Thr988fs) rs2083275468
NM_001372044.2(SHANK3):c.2967G>A (p.Pro989=)
NM_001372044.2(SHANK3):c.2971_2979dup (p.Pro993_Lys994insGluArgPro)
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.3159_3179delinsGGCAG (p.Gly1054fs) rs2146830032
NM_001372044.2(SHANK3):c.3173G>C (p.Arg1058Pro) rs1000364280
NM_001372044.2(SHANK3):c.3216C>A (p.Leu1072=)
NM_001372044.2(SHANK3):c.3279G>C (p.Arg1093=) rs2146830361
NM_001372044.2(SHANK3):c.3327C>A (p.Ala1109=)
NM_001372044.2(SHANK3):c.3339C>T (p.Ser1113=)
NM_001372044.2(SHANK3):c.3350C>A (p.Ala1117Glu)
NM_001372044.2(SHANK3):c.3408C>G (p.Gly1136=) rs748205250
NM_001372044.2(SHANK3):c.3526C>G (p.Pro1176Ala) rs1385920913
NM_001372044.2(SHANK3):c.3546C>T (p.Pro1182=)
NM_001372044.2(SHANK3):c.3561G>T (p.Leu1187=) rs2083283470
NM_001372044.2(SHANK3):c.3566C>T (p.Ala1189Val)
NM_001372044.2(SHANK3):c.3769C>T (p.Arg1257Trp)
NM_001372044.2(SHANK3):c.3798G>A (p.Lys1266=)
NM_001372044.2(SHANK3):c.3870C>T (p.Thr1290=)
NM_001372044.2(SHANK3):c.3880C>G (p.Gln1294Glu)
NM_001372044.2(SHANK3):c.3902G>A (p.Gly1301Glu)
NM_001372044.2(SHANK3):c.3904dup (p.Ala1302fs) rs762292772
NM_001372044.2(SHANK3):c.3907G>T (p.Glu1303Ter) rs761720914
NM_001372044.2(SHANK3):c.3941C>T (p.Pro1314Leu) rs753314270
NM_001372044.2(SHANK3):c.3950T>G (p.Met1317Arg)
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs) rs886041238
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.4027C>T (p.Pro1343Ser)
NM_001372044.2(SHANK3):c.4061T>G (p.Leu1354Arg)
NM_001372044.2(SHANK3):c.4081C>T (p.Pro1361Ser) rs1219979283
NM_001372044.2(SHANK3):c.4088C>T (p.Ala1363Val)
NM_001372044.2(SHANK3):c.4173G>A (p.Gly1391=)
NM_001372044.2(SHANK3):c.41C>T (p.Pro14Leu)
NM_001372044.2(SHANK3):c.4201C>T (p.Pro1401Ser)
NM_001372044.2(SHANK3):c.4257_4260del (p.Glu1419fs) rs1569116167
NM_001372044.2(SHANK3):c.4265del (p.Pro1422fs)
NM_001372044.2(SHANK3):c.4473C>A (p.Pro1491=)
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.4647G>A (p.Trp1549Ter) rs2146833570
NM_001372044.2(SHANK3):c.4656C>T (p.Pro1552=)
NM_001372044.2(SHANK3):c.4709G>C (p.Ser1570Thr)
NM_001372044.2(SHANK3):c.4719C>T (p.Ser1573=)
NM_001372044.2(SHANK3):c.473C>T (p.Thr158Met)
NM_001372044.2(SHANK3):c.4740_4746dup (p.Thr1583fs) rs2083299114
NM_001372044.2(SHANK3):c.4813C>T (p.Pro1605Ser) rs1569116634
NM_001372044.2(SHANK3):c.4874_4878dup (p.Pro1627fs) rs1603447373
NM_001372044.2(SHANK3):c.4901C>T (p.Ala1634Val)
NM_001372044.2(SHANK3):c.4904C>T (p.Ser1635Leu)
NM_001372044.2(SHANK3):c.5009G>C (p.Gly1670Ala)
NM_001372044.2(SHANK3):c.5016A>C (p.Ala1672=)
NM_001372044.2(SHANK3):c.5097C>T (p.Arg1699=)
NM_001372044.2(SHANK3):c.5136C>G (p.Pro1712=)
NM_001372044.2(SHANK3):c.5197C>T (p.Arg1733Ter) rs2083361357
NM_001372044.2(SHANK3):c.5227T>C (p.Trp1743Arg) rs2083361660
NM_001372044.2(SHANK3):c.5281C>A (p.Arg1761Ser) rs2146844008
NM_001372044.2(SHANK3):c.5325C>T (p.Pro1775=)
NM_001372044.2(SHANK3):c.5394C>A (p.Arg1798=)
NM_001372044.2(SHANK3):c.70G>T (p.Ala24Ser)
NM_001372044.2(SHANK3):c.756_757del (p.Phe253fs)
NM_001372044.2(SHANK3):c.813G>A (p.Ala271=)
NM_001372044.2(SHANK3):c.871G>A (p.Gly291Ser)
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.996-5C>T

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