ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_203475.3(PORCN):c.49_80del (p.Cys17fs) rs2061661681

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