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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_001321075.3(DLG4):c.1478+2T>C	rs542036630
NM_001321075.3(DLG4):c.1479-2A>G	rs2142828286
NM_001321075.3(DLG4):c.1489C>T (p.Arg497Ter)	rs1567528092
NM_001321075.3(DLG4):c.1490del (p.Arg497fs)
NM_001321075.3(DLG4):c.1543+2T>C	rs1597444614
NM_001321075.3(DLG4):c.1592-1G>A	rs2142825829
NM_001321075.3(DLG4):c.1607C>T (p.Pro536Leu)	rs2142825745
NM_001321075.3(DLG4):c.1693+1G>A	rs2142825211
NM_001321075.3(DLG4):c.1832C>T (p.Thr611Ile)	rs2142821651
NM_001321075.3(DLG4):c.1866+2T>C	rs2142821543
NM_001321075.3(DLG4):c.1878C>A (p.Cys626Ter)	rs1451196379
NM_001321075.3(DLG4):c.210+1G>T	rs2070315709
NM_001321075.3(DLG4):c.210+2del
NM_001321075.3(DLG4):c.211-2A>G	rs2142886707
NM_001321075.3(DLG4):c.505+1G>T
NM_001321075.3(DLG4):c.506-2A>G
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.642G>A (p.Ala214=)	rs2142883774
NM_001321075.3(DLG4):c.643-1G>T
NM_001321075.3(DLG4):c.773del (p.Pro258fs)
NM_001321075.3(DLG4):c.787+2T>C	rs2142881946

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