ClinVar Miner

List of variants in gene SHANK3 studied for chromosomal disorder

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 112
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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.1113-8C>T rs9628236 0.00917
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.3985C>T (p.Pro1329Ser) rs748123356 0.00002
NM_001372044.2(SHANK3):c.1144G>T (p.Ala382Ser) rs1234645097 0.00001
NM_001372044.2(SHANK3):c.1312G>A (p.Gly438Ser) rs368073391 0.00001
NM_001372044.2(SHANK3):c.2455+1G>A rs1396379503 0.00001
NM_001372044.2(SHANK3):c.3852C>T (p.Leu1284=) rs753765611 0.00001
NM_001372044.2(SHANK3):c.4600G>A (p.Gly1534Arg) rs1440735830 0.00001
GRCh37/hg19 22q13.33(chr22:51123491-51144365)
GRCh37/hg19 22q13.33(chr22:51132804-51144365)
NM_001372044.2(SHANK3):c.1012G>A (p.Val338Met)
NM_001372044.2(SHANK3):c.1040A>G (p.Tyr347Cys) rs1555905749
NM_001372044.2(SHANK3):c.1065C>G (p.Asn355Lys) rs200400333
NM_001372044.2(SHANK3):c.1181C>T (p.Ala394Val) rs2124372229
NM_001372044.2(SHANK3):c.1235C>G rs869312715
NM_001372044.2(SHANK3):c.1255G>T (p.Val419Leu) rs1057519406
NM_001372044.2(SHANK3):c.1294C>T (p.Arg432Ter)
NM_001372044.2(SHANK3):c.1336C>T (p.Gln446Ter) rs2146794652
NM_001372044.2(SHANK3):c.1529+46G>A rs2146795039
NM_001372044.2(SHANK3):c.1530-280dup rs745950788
NM_001372044.2(SHANK3):c.155G>A (p.Gly52Glu)
NM_001372044.2(SHANK3):c.2228C>G (p.Pro743Arg)
NM_001372044.2(SHANK3):c.2300+4_2300+12del
NM_001372044.2(SHANK3):c.2324+1del rs2146817773
NM_001372044.2(SHANK3):c.2365C>T (p.Leu789=) rs1447758824
NM_001372044.2(SHANK3):c.2410_2413del (p.Asp804fs)
NM_001372044.2(SHANK3):c.2648G>C (p.Arg883Pro) rs2083272071
NM_001372044.2(SHANK3):c.2869dup (p.Tyr957fs)
NM_001372044.2(SHANK3):c.2871T>A (p.Tyr957Ter)
NM_001372044.2(SHANK3):c.2881C>T (p.Gln961Ter) rs2083274586
NM_001372044.2(SHANK3):c.2914_2948del (p.Asp972fs)
NM_001372044.2(SHANK3):c.2970del (p.Glu991fs)
NM_001372044.2(SHANK3):c.3014C>T (p.Pro1005Leu) rs2083276245
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser) rs530255181
NM_001372044.2(SHANK3):c.3187_3188insGCTCTCCCCGA (p.Thr1063fs)
NM_001372044.2(SHANK3):c.3189_3202del (p.His1064fs)
NM_001372044.2(SHANK3):c.319G>T (p.Val107Leu) rs2082908926
NM_001372044.2(SHANK3):c.3226G>A (p.Ala1076Thr) rs1555910078
NM_001372044.2(SHANK3):c.3251del (p.Phe1084fs)
NM_001372044.2(SHANK3):c.3286del (p.Glu1096fs)
NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs) rs2083280147
NM_001372044.2(SHANK3):c.335A>C (p.Gln112Pro)
NM_001372044.2(SHANK3):c.3388del (p.Glu1130fs) rs2146830613
NM_001372044.2(SHANK3):c.3389del (p.Glu1130fs)
NM_001372044.2(SHANK3):c.3443_3449del (p.Pro1148fs)
NM_001372044.2(SHANK3):c.3443del (p.Pro1148fs)
NM_001372044.2(SHANK3):c.3502_3535del (p.Phe1168fs)
NM_001372044.2(SHANK3):c.3568C>T (p.Arg1190Ter)
NM_001372044.2(SHANK3):c.3597C>G (p.Pro1199=)
NM_001372044.2(SHANK3):c.3635dup (p.Asp1212fs)
NM_001372044.2(SHANK3):c.3689C>G (p.Ser1230Cys)
NM_001372044.2(SHANK3):c.3777G>A (p.Glu1259=) rs763158627
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.3867dup (p.Thr1290fs) rs2083287955
NM_001372044.2(SHANK3):c.3949dup (p.Met1317fs)
NM_001372044.2(SHANK3):c.3952_3964del (p.Gln1318fs) rs2146832070
NM_001372044.2(SHANK3):c.3952dup (p.Gln1318fs)
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.4052A>C (p.Glu1351Ala)
NM_001372044.2(SHANK3):c.4108GAG[1] (p.Glu1371del) rs1462066038
NM_001372044.2(SHANK3):c.4108del (p.Glu1370fs) rs1555910212
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.4254_4255del (p.Ser1418fs) rs1057519395
NM_001372044.2(SHANK3):c.4265dup (p.Ala1423fs)
NM_001372044.2(SHANK3):c.4274_4275del (p.Glu1425fs) rs2146832853
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.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.4477C>T (p.Leu1493Phe)
NM_001372044.2(SHANK3):c.4613dup (p.Arg1539fs)
NM_001372044.2(SHANK3):c.4690G>T (p.Asp1564Tyr) rs373588048
NM_001372044.2(SHANK3):c.4703_4704del (p.Val1568fs)
NM_001372044.2(SHANK3):c.4730A>G (p.Gln1577Arg)
NM_001372044.2(SHANK3):c.4732C>T (p.Gln1578Ter) rs2146833747
NM_001372044.2(SHANK3):c.4889C>T (p.Pro1630Leu) rs1329146990
NM_001372044.2(SHANK3):c.4904C>G (p.Ser1635Trp)
NM_001372044.2(SHANK3):c.4907dup (p.Tyr1636Ter)
NM_001372044.2(SHANK3):c.4908C>G (p.Tyr1636Ter)
NM_001372044.2(SHANK3):c.494+2T>G rs1603445997
NM_001372044.2(SHANK3):c.4978G>T (p.Glu1660Ter) rs1603447380
NM_001372044.2(SHANK3):c.4987G>T (p.Glu1663Ter)
NM_001372044.2(SHANK3):c.5057C>G (p.Ser1686Trp) rs2083359701
NM_001372044.2(SHANK3):c.5074_5077dup (p.His1693fs)
NM_001372044.2(SHANK3):c.5107C>A (p.Arg1703Ser) rs2083360139
NM_001372044.2(SHANK3):c.5166dup (p.Gly1723fs)
NM_001372044.2(SHANK3):c.5307_5310del (p.Ile1769fs) rs2083362101
NM_001372044.2(SHANK3):c.542A>C (p.Gln181Pro) rs1555905307
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.623G>A (p.Arg208His)
NM_001372044.2(SHANK3):c.646C>G (p.Pro216Ala) rs397514705
NM_001372044.2(SHANK3):c.781G>A (p.Ala261Thr)
NM_001372044.2(SHANK3):c.800G>A (p.Arg267His)
NM_001372044.2(SHANK3):c.938A>G (p.His313Arg)
NM_001372044.2(SHANK3):c.974G>T (p.Gly325Val)
NM_001372044.2:c.288+1G>A
NM_033517.1(SHANK3):c.2613C>G (p.Tyr871Ter) rs1001153999
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

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