ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 1 by Human Genetics - Radboudumc,Radboudumc

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_022124.6(CDH23):c.3428dup (p.His1143fs) rs1253419936
NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter) rs1564796487

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