ClinVar Miner

List of variants in gene SHANK3 reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.2455+1G>A rs1396379503 0.00001
NM_001372044.2(SHANK3):c.2087-2_2093del rs2146808453
NM_001372044.2(SHANK3):c.2329G>T (p.Glu777Ter) rs1131691960
NM_001372044.2(SHANK3):c.2553del (p.Ile852fs) rs1064796526
NM_001372044.2(SHANK3):c.2769C>G (p.Tyr923Ter) rs1191090323
NM_001372044.2(SHANK3):c.2920del (p.Ala974fs) rs1555910013
NM_001372044.2(SHANK3):c.2974C>T (p.Arg992Ter) rs1327088096
NM_001372044.2(SHANK3):c.3069_3076dup (p.Lys1026fs) rs1555910034
NM_001372044.2(SHANK3):c.3153del (p.Gly1052fs) rs886041869
NM_001372044.2(SHANK3):c.3325_3349del (p.Ala1109fs) rs1603447122
NM_001372044.2(SHANK3):c.3411del (p.Thr1138fs) rs1131691816
NM_001372044.2(SHANK3):c.3480_3484del (p.Ser1160fs) rs1064793925
NM_001372044.2(SHANK3):c.3760A>T (p.Lys1254Ter) rs771528741
NM_001372044.2(SHANK3):c.3976_3988del (p.Leu1326fs) rs1555910178
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs) rs886041238
NM_001372044.2(SHANK3):c.3991dup (p.Ala1331fs) rs1603447136
NM_001372044.2(SHANK3):c.4132C>T (p.Arg1378Ter) rs1238131472
NM_001372044.2(SHANK3):c.4160_4161del (p.Glu1387fs) rs1603447139
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.4334_4335del (p.Leu1445fs) rs1064793514
NM_001372044.2(SHANK3):c.4454del (p.Pro1485fs) rs1131691727
NM_001372044.2(SHANK3):c.4747_4748del (p.Thr1583fs) rs1555910299
NM_001372044.2(SHANK3):c.4784del (p.Gly1595fs) rs1555910304
NM_001372044.2(SHANK3):c.4790del (p.Leu1597fs) rs886041430
NM_001372044.2(SHANK3):c.4874_4878dup (p.Pro1627fs) rs1603447373
NM_001372044.2(SHANK3):c.496C>T (p.Arg166Ter) rs1569097392
NM_001372044.2(SHANK3):c.5131_5146dup (p.Pro1716fs) rs886041467
NM_001372044.2(SHANK3):c.5252G>A (p.Trp1751Ter) rs1603447383
NM_001372044.2(SHANK3):c.5306T>G (p.Ile1769Arg)
NM_001372044.2(SHANK3):c.5311G>A (p.Gly1771Ser) rs1555910944
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.3679del (p.Ala1227fs) rs762292772
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772

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