ClinVar Miner

List of variants reported as likely pathogenic for X-linked syndromic intellectual disability by Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001356.4(DDX3X):c.820C>T (p.Pro274Ser) rs1267519974
NM_003336.4(UBE2A):c.373del (p.Gln125fs) rs1556244406
NM_004586.3(RPS6KA3):c.1762G>C (p.Glu588Gln) rs1555927532
NM_005249.5(FOXG1):c.824G>C (p.Arg275Pro) rs1555321361
NM_032335.3(PHF6):c.760_762ACA[2] (p.Thr256del) rs1556019105

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