ClinVar Miner

List of variants in gene DLG4 reported as pathogenic for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001321075.3(DLG4):c.129del (p.Asp43fs)
NM_001321075.3(DLG4):c.1381_1384del (p.His461fs)
NM_001321075.3(DLG4):c.1434dup (p.Asp479Ter) rs2069660959
NM_001321075.3(DLG4):c.143dup (p.Gly49fs)
NM_001321075.3(DLG4):c.1458del (p.Phe487fs) rs2142830670
NM_001321075.3(DLG4):c.1478+2T>C rs542036630
NM_001321075.3(DLG4):c.1478+4_1478+19del rs2142830394
NM_001321075.3(DLG4):c.1486C>T (p.Arg496Ter) rs2142828228
NM_001321075.3(DLG4):c.1489C>T (p.Arg497Ter) rs1567528092
NM_001321075.3(DLG4):c.148dup (p.Tyr50fs) rs869312859
NM_001321075.3(DLG4):c.1496G>A (p.Trp499Ter) rs1160688414
NM_001321075.3(DLG4):c.1497G>A (p.Trp499Ter) rs2142828170
NM_001321075.3(DLG4):c.1512dup (p.Lys505fs)
NM_001321075.3(DLG4):c.1543+2T>C rs1597444614
NM_001321075.3(DLG4):c.1546C>T (p.Arg516Ter) rs778104648
NM_001321075.3(DLG4):c.1592-1G>A rs2142825829
NM_001321075.3(DLG4):c.1672A>T (p.Lys558Ter) rs2142825224
NM_001321075.3(DLG4):c.1693+1G>A rs2142825211
NM_001321075.3(DLG4):c.1696dup (p.Thr566fs)
NM_001321075.3(DLG4):c.1697del (p.Thr566fs) rs2142822298
NM_001321075.3(DLG4):c.1714del (p.Glu572fs) rs1597442444
NM_001321075.3(DLG4):c.1757G>A (p.Arg586Gln) rs2142821925
NM_001321075.3(DLG4):c.1832C>T (p.Thr611Ile) rs2142821651
NM_001321075.3(DLG4):c.1849C>T (p.Arg617Ter) rs767384318
NM_001321075.3(DLG4):c.1855del (p.Val619fs) rs2142821587
NM_001321075.3(DLG4):c.1866+2T>C rs2142821543
NM_001321075.3(DLG4):c.1878C>A (p.Cys626Ter) rs1451196379
NM_001321075.3(DLG4):c.193G>T (p.Glu65Ter) rs2142888007
NM_001321075.3(DLG4):c.1976+235C>T
NM_001321075.3(DLG4):c.2074_2078delinsT (p.Val692fs) rs2142803273
NM_001321075.3(DLG4):c.2082dup (p.Asp695Ter)
NM_001321075.3(DLG4):c.211-2A>G rs2142886707
NM_001321075.3(DLG4):c.218C>G (p.Ser73Ter) rs2142886687
NM_001321075.3(DLG4):c.243dup (p.Gly82fs) rs2142886600
NM_001321075.3(DLG4):c.319C>T (p.Gln107Ter) rs2142886433
NM_001321075.3(DLG4):c.326del (p.Gly109fs) rs1597472411
NM_001321075.3(DLG4):c.339del (p.Asn114fs) rs2142885916
NM_001321075.3(DLG4):c.410_411del (p.Leu137fs) rs2142885592
NM_001321075.3(DLG4):c.478G>T (p.Glu160Ter) rs2142885279
NM_001321075.3(DLG4):c.525dup (p.Gly176fs) rs1597471063
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val) rs2142884433
NM_001321075.3(DLG4):c.557A>T (p.Asp186Val) rs2142884288
NM_001321075.3(DLG4):c.605del (p.Lys202fs) rs1064795686
NM_001321075.3(DLG4):c.642G>A (p.Ala214=) rs2142883774
NM_001321075.3(DLG4):c.787+2T>C rs2142881946
NM_001321075.3(DLG4):c.94C>T (p.Gln32Ter)

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