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 (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001015877.2(PHF6):c.757ACA[2] (p.Thr255del) rs1556019105
NM_001356.5(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

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