ClinVar Miner

List of variants reported as pathogenic for X-linked intellectual disability by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

Included ClinVar conditions (151):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.153670446_154329698dup
NM_001039591.3(USP9X):c.1840_1843del (p.Thr614fs) rs2147080766
NM_001039591.3(USP9X):c.2281dup (p.Tyr761fs)
NM_001356.5(DDX3X):c.152-1G>A rs1131691769
NM_004187.5(KDM5C):c.1361_1362del (p.Pro454fs) rs2146919819

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