ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Dobyns Lab,Seattle Children's Research Institute

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001356.4(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.4(DDX3X):c.1439G>C (p.Arg480Thr) rs1569240005
NM_003688.3(CASK):c.2120dup (p.Tyr708fs) rs1569295677
NM_003688.3(CASK):c.533-2A>G rs1569380062
NM_003688.3(CASK):c.79C>T (p.Arg27Ter) rs794727270

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