ClinVar Miner

List of variants reported as pathogenic for X-linked disease by Ege University Pediatric Genetics,Ege University

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_001278116.2(L1CAM):c.3166+1G>A rs1603273984
NM_001278116.2(L1CAM):c.749del (p.Ser250fs) rs1603276024
NM_004586.3(RPS6KA3):c.2196del (p.Ile735fs) rs1603417191

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