ClinVar Miner

List of variants in gene SHANK3 studied for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 218
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.959T>C (p.Ile320Thr) rs9616915 0.46763
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.3222C>T (p.Tyr1074=) rs144470529 0.01743
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.3372C>T (p.Pro1124=) rs200572899 0.00421
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(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.3238C>G (p.Pro1080Ala) rs563455211 0.00198
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.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.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.4038C>T (p.Gly1346=) rs367676023 0.00050
NM_001372044.2(SHANK3):c.4259C>T (p.Pro1420Leu) rs73174429 0.00046
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.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.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.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.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.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.2745G>A (p.Pro915=) rs1453397190 0.00004
NM_001372044.2(SHANK3):c.4083A>G (p.Pro1361=) rs371543035 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.5160C>T (p.Pro1720=) rs751652089 0.00003
NM_001372044.2(SHANK3):c.3507C>A (p.Ile1169=) rs746818601 0.00002
NM_001372044.2(SHANK3):c.3760A>G (p.Lys1254Glu) rs771528741 0.00002
NM_001372044.2(SHANK3):c.4667G>A (p.Arg1556Gln) rs1216527991 0.00002
NM_001372044.2(SHANK3):c.1251T>C (p.Asp417=) rs1377234347 0.00001
NM_001372044.2(SHANK3):c.1832G>A (p.Arg611Gln) rs767437118 0.00001
NM_001372044.2(SHANK3):c.2261C>T (p.Pro754Leu) rs1257874744 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.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.3527C>T (p.Pro1176Leu) rs768527232 0.00001
NM_001372044.2(SHANK3):c.3779G>A (p.Arg1260Gln) rs752694316 0.00001
NM_001372044.2(SHANK3):c.4006G>A (p.Gly1336Ser) rs752227380 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.492G>A (p.Glu164=) rs1377264220 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.1052T>C (p.Met351Thr)
NM_001372044.2(SHANK3):c.1138C>T (p.Arg380Cys) rs2082981691
NM_001372044.2(SHANK3):c.1177A>G (p.Thr393Ala)
NM_001372044.2(SHANK3):c.1235C>T (p.Thr412Ile)
NM_001372044.2(SHANK3):c.1307C>G (p.Pro436Arg)
NM_001372044.2(SHANK3):c.1547G>C (p.Gly516Ala)
NM_001372044.2(SHANK3):c.1619_1629dup (p.Ser544fs)
NM_001372044.2(SHANK3):c.1689-3C>T rs565420289
NM_001372044.2(SHANK3):c.1695C>G (p.Ile565Met)
NM_001372044.2(SHANK3):c.1776G>A (p.Thr592=)
NM_001372044.2(SHANK3):c.1792G>C (p.Asp598His)
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.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.2268C>G (p.Pro756=) rs61731160
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.2416G>A (p.Ala806Thr)
NM_001372044.2(SHANK3):c.2452_2453del (p.Arg818fs) rs2083233502
NM_001372044.2(SHANK3):c.2478del (p.Ala827fs) rs2083233723
NM_001372044.2(SHANK3):c.2487T>G (p.Ile829Met)
NM_001372044.2(SHANK3):c.2543T>C (p.Leu848Ser)
NM_001372044.2(SHANK3):c.2545C>T (p.Arg849Trp)
NM_001372044.2(SHANK3):c.2612G>A (p.Arg871His)
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.2703G>A (p.Ala901=)
NM_001372044.2(SHANK3):c.2717A>G (p.Asp906Gly)
NM_001372044.2(SHANK3):c.2720C>T (p.Ser907Leu)
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.2838C>T (p.Tyr946=)
NM_001372044.2(SHANK3):c.2847C>T (p.Gly949=)
NM_001372044.2(SHANK3):c.2849C>T (p.Ala950Val)
NM_001372044.2(SHANK3):c.2894G>C (p.Arg965Pro)
NM_001372044.2(SHANK3):c.290+6C>T
NM_001372044.2(SHANK3):c.2962A>C (p.Thr988Pro)
NM_001372044.2(SHANK3):c.2972A>C (p.Glu991Ala)
NM_001372044.2(SHANK3):c.2981A>C (p.Lys994Thr)
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.3019G>A (p.Ala1007Thr)
NM_001372044.2(SHANK3):c.3032C>T (p.Ala1011Val) rs1569114967
NM_001372044.2(SHANK3):c.3130C>A (p.Leu1044Met)
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser) rs530255181
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.3250T>G (p.Phe1084Val)
NM_001372044.2(SHANK3):c.3304A>G (p.Thr1102Ala)
NM_001372044.2(SHANK3):c.330C>T (p.Ala110=)
NM_001372044.2(SHANK3):c.3352G>C (p.Asp1118His)
NM_001372044.2(SHANK3):c.3356T>C (p.Leu1119Pro)
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.3425A>C (p.Asp1142Ala)
NM_001372044.2(SHANK3):c.3443C>G (p.Pro1148Arg)
NM_001372044.2(SHANK3):c.3455T>A (p.Leu1152Gln)
NM_001372044.2(SHANK3):c.3460C>T (p.Pro1154Ser)
NM_001372044.2(SHANK3):c.3596C>T (p.Pro1199Leu)
NM_001372044.2(SHANK3):c.3656T>C (p.Val1219Ala)
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.3766C>A (p.Pro1256Thr) rs200188413
NM_001372044.2(SHANK3):c.3793G>A (p.Asp1265Asn)
NM_001372044.2(SHANK3):c.3832C>T (p.Leu1278=)
NM_001372044.2(SHANK3):c.3867C>T (p.Ala1289=)
NM_001372044.2(SHANK3):c.3868A>T (p.Thr1290Ser)
NM_001372044.2(SHANK3):c.3899G>A (p.Gly1300Glu)
NM_001372044.2(SHANK3):c.3912G>A (p.Glu1304=) rs1264964864
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.3977_3989del (p.Leu1326fs) rs1555910182
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs) rs886041238
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.4077C>T (p.Asn1359=)
NM_001372044.2(SHANK3):c.4088C>T (p.Ala1363Val)
NM_001372044.2(SHANK3):c.4144G>T (p.Val1382Leu)
NM_001372044.2(SHANK3):c.4170C>G (p.Asn1390Lys)
NM_001372044.2(SHANK3):c.4265C>G (p.Pro1422Arg)
NM_001372044.2(SHANK3):c.4269C>T (p.Ala1423=)
NM_001372044.2(SHANK3):c.4284C>T (p.Ala1428=)
NM_001372044.2(SHANK3):c.4313G>A (p.Arg1438His)
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.4502C>T (p.Pro1501Leu)
NM_001372044.2(SHANK3):c.4589C>T (p.Ala1530Val)
NM_001372044.2(SHANK3):c.4627C>T (p.Gln1543Ter) rs1064795759
NM_001372044.2(SHANK3):c.4656C>T (p.Pro1552=)
NM_001372044.2(SHANK3):c.4662G>A (p.Glu1554=)
NM_001372044.2(SHANK3):c.4666C>T (p.Arg1556Trp)
NM_001372044.2(SHANK3):c.4691A>G (p.Asp1564Gly)
NM_001372044.2(SHANK3):c.4696C>T (p.Pro1566Ser)
NM_001372044.2(SHANK3):c.4765dup (p.Glu1589fs) rs1569116595
NM_001372044.2(SHANK3):c.4902C>A (p.Ala1634=)
NM_001372044.2(SHANK3):c.4910C>T (p.Ser1637Leu) rs1064796872
NM_001372044.2(SHANK3):c.4944A>T (p.Arg1648Ser)
NM_001372044.2(SHANK3):c.496C>T (p.Arg166Ter) rs1569097392
NM_001372044.2(SHANK3):c.4983G>C (p.Arg1661=)
NM_001372044.2(SHANK3):c.5003G>A (p.Gly1668Asp)
NM_001372044.2(SHANK3):c.5153C>T (p.Pro1718Leu)
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.5184C>T (p.Ala1728=)
NM_001372044.2(SHANK3):c.5188G>A (p.Gly1730Ser)
NM_001372044.2(SHANK3):c.5253G>A (p.Trp1751Ter)
NM_001372044.2(SHANK3):c.5346C>T (p.Phe1782=)
NM_001372044.2(SHANK3):c.5362dup (p.Thr1788fs) rs2083362624
NM_001372044.2(SHANK3):c.5400C>G (p.Leu1800=)
NM_001372044.2(SHANK3):c.5417G>A (p.Ser1806Asn)
NM_001372044.2(SHANK3):c.567-3C>T rs867118013
NM_001372044.2(SHANK3):c.870C>T (p.Arg290=)
NM_001372044.2(SHANK3):c.895G>A (p.Ala299Thr)
NM_001372044.2(SHANK3):c.991C>G (p.Gln331Glu)
NM_001372044.2(SHANK3):c.995+3G>A
NM_033517.1(SHANK3):c.3379delinsCC (p.Ser1127fs) rs1555910140
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772
NM_033517.1(SHANK3):c.59A>G (p.Gln20Arg)

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