ClinVar Miner

List of variants in gene SHANK3 reported as likely pathogenic

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Gene type:
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.2455+1G>A rs1396379503 0.00001
GRCh37/hg19 22q13.33(chr22:51107230-51166282)x3
NM_001372044.2(SHANK3):c.1065C>G (p.Asn355Lys) rs200400333
NM_001372044.2(SHANK3):c.1255G>T (p.Val419Leu) rs1057519406
NM_001372044.2(SHANK3):c.1257+4A>G rs1555906705
NM_001372044.2(SHANK3):c.1593dup (p.Ala532fs) rs1064797289
NM_001372044.2(SHANK3):c.1721del (p.Lys574fs) rs1064797290
NM_001372044.2(SHANK3):c.1797C>A (p.Cys599Ter) rs377573165
NM_001372044.2(SHANK3):c.2300G>A (p.Arg767His) rs1064796528
NM_001372044.2(SHANK3):c.2324+1del rs2146817773
NM_001372044.2(SHANK3):c.2455+1G>C
NM_001372044.2(SHANK3):c.2869dup (p.Tyr957fs)
NM_001372044.2(SHANK3):c.2914_2948del (p.Asp972fs)
NM_001372044.2(SHANK3):c.2951dup (p.Pro985fs) rs1603447111
NM_001372044.2(SHANK3):c.2970del (p.Glu991fs)
NM_001372044.2(SHANK3):c.3159_3179delinsGGCAG (p.Gly1054fs) rs2146830032
NM_001372044.2(SHANK3):c.3187_3188insGCTCTCCCCGA (p.Thr1063fs)
NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs) rs2083280147
NM_001372044.2(SHANK3):c.3443_3449del (p.Pro1148fs)
NM_001372044.2(SHANK3):c.3443del (p.Pro1148fs)
NM_001372044.2(SHANK3):c.3568C>T (p.Arg1190Ter)
NM_001372044.2(SHANK3):c.3949dup (p.Met1317fs)
NM_001372044.2(SHANK3):c.3952dup (p.Gln1318fs)
NM_001372044.2(SHANK3):c.3977_3989del (p.Leu1326fs) rs1555910182
NM_001372044.2(SHANK3):c.4013dup (p.Ala1339fs) rs1555910193
NM_001372044.2(SHANK3):c.4257_4260del (p.Glu1419fs) rs1569116167
NM_001372044.2(SHANK3):c.4274_4275del (p.Glu1425fs) rs2146832853
NM_001372044.2(SHANK3):c.4311_4312del (p.Arg1438fs) rs1603447144
NM_001372044.2(SHANK3):c.4556_4559dup (p.Gln1520fs) rs2083297043
NM_001372044.2(SHANK3):c.4627C>T (p.Gln1543Ter) rs1064795759
NM_001372044.2(SHANK3):c.4732C>T (p.Gln1578Ter) rs2146833747
NM_001372044.2(SHANK3):c.4765dup (p.Glu1589fs) rs1569116595
NM_001372044.2(SHANK3):c.4836dup (p.Ser1613fs) rs1555910895
NM_001372044.2(SHANK3):c.4874_4878dup (p.Pro1627fs) rs1603447373
NM_001372044.2(SHANK3):c.494+2T>G rs1603445997
NM_001372044.2(SHANK3):c.496C>T (p.Arg166Ter) rs1569097392
NM_001372044.2(SHANK3):c.503A>G (p.Lys168Arg)
NM_001372044.2(SHANK3):c.5046dup (p.Ile1683fs) rs1603447381
NM_001372044.2(SHANK3):c.5086A>T (p.Lys1696Ter) rs1085307954
NM_001372044.2(SHANK3):c.5166dup (p.Gly1723fs)
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.5239G>T (p.Asp1747Tyr) rs1131691485
NM_001372044.2(SHANK3):c.5251T>C (p.Trp1751Arg) rs1131691469
NM_001372044.2(SHANK3):c.5281C>A (p.Arg1761Ser) rs2146844008
NM_001372044.2(SHANK3):c.5324_5334del (p.Pro1775fs)
NM_001372044.2(SHANK3):c.5354T>C (p.Leu1785Pro) rs1555910948
NM_001372044.2(SHANK3):c.5362dup (p.Thr1788fs) rs2083362624
NM_001372044.2(SHANK3):c.646C>G (p.Pro216Ala) rs397514705
NM_001372044.2(SHANK3):c.973G>T (p.Gly325Cys) rs1131691463
NM_001372044.2(SHANK3):c.993G>T (p.Gln331His) rs1131691464
NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs) rs1555910143
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772

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